Our Precious 1p36 Miracle

Happy 2nd Birthday sweet angel!

2010-07-23T01:30:00.020-05:00

Dear Kaylee,

It’s unbelievable that my precious little girl is turning two-years-old today — on so many levels. It literally seems like yesterday that you came into this world and gently taught me what truly is wonderful and special and good and extraordinary; taught me what really matters in life. I could never come up with enough words to adequately describe my feelings towards you, but here are a few things that I want you to know I love:

I love watching you sleep and feeling you so close to me.

I love being the first to see those beautiful eyes greet each and every single cherished morning when you wake up. So happy. So innocent. So Kaylee.

I love your gentle determination and am so proud of your fighting spirit.

I love how unbelievably forgiving you are.

I love the deeply loving and distinctly admiring way that you look at your sister Allison — always smiling & giggling every time without fail.

I love that your trust for both daddy and me has absolutely no end.

I love your sweet, loving smile.

I love your hearty laugh...it's contagious.

I love blowing on your tummy and you anticipating it with a giggle.

I love your night night dance when you try to put yourself to bed.

I love that you know exactly what you want and will definitely let me know even if you can't sign or talk yet.

I love your independence and your persistence.

I love watching you eat and seeing your expressions when you try something new.

I love holding your hand, kissing and loving on you, and singing you the same repetitive out of tune songs.

I love that you want us to snuggle with you. I hope you never stop.

I love how you like to touch my face and try to grab my mouth.

I love your imperfect toes and your perfect tiny nose.

I love your thirst for life and adventure and the look of surprise and excitement on your face when you get so excited.

I love that you think mommy is so funny.

More than anything, anything, ANYTHING else in the entire world, I LOVE being your Mommy — the luckiest mommy in the world — and am so unbelievably proud of the little inspiring girl that you have become.

Happy 2nd birthday sweetheart. Mommy & daddy are so proud of you. You are our world…

Updates.....

Wow. I do believe that this marks my longest mini hiatus. Life has been crazy busy...but a good kind of busy. So much to catch everyone up on. So much so, that I hardly know where to begin. Instead of making this a marathon post, saturated with all the events of the past 6 months, I will hit a few high points for now.

So far, Kaylee has been seizure free from last Feb 09. We are truly blessed that she's been medically healthy...Praise God. Kaylee is a happy loving little girl. We are so proud of her and all of her accomplishments...some big and some small. She's able to sit longer periods at a time sometimes over 30-45 min. depending if she's motivated by one of her toys. Kaylee can feed herself finger foods such as cheetos, banana puffs, really anything she can grab. She's been very alert to her surroundings...very curious to see what's going on. We love how she's been making awesome eye contact with strangers and even tries to interact with them. She's always loved looking at immediate family but now she's been exploring out of her box. We've been trying the brush technique 2 days ago and we've seen some great results. She doesn't mind when we brush her extremities...still a little sensitive to her feet but much better since we first started. She's been weight bearing more on her feet without the need for her shoes which is a hugh accomplishment for us. She's been sustain grasping her toys for longer periods now and will tolerate certain sounds like crinkling of foil. I can't even imagine what she'll do in another week of brush therapy. It's been time consuming...brushing every 2-3 hrs but well worth it.

We added a couple more therapies per week to her already hectic schedule. She now receives music therapy and cranial sacral therapy. Music therapy is one of her favorites. She loves anything that lights up or makes sounds. She always heads for the drums and piano. She thinks it's funny when she bangs on things...she loves repetition. Of course, I have to sing to her when she starts getting cranky but if it motivates her then I'll do whatever it takes...even if I have to sing row, row your boat 50 million times. Kaylee still is not motivated to crawl at this time, but I know she's getting close. She has all the pieces down, but it's the matter of putting it all together. Her shoulder girdle & upper body is still a little weak but so much better now. Kaylee's been tolerating weight bearing on her legs okay. She experiences tight hips & knees, but responds very well to a technique called total motion release known as TMR. TMR has worked wonders on Kaylee's body. Every time she feels tight in certain areas to her body we can usually release the restrictions by balancing her body out using TMR techniques....awesome stuff. For more info on TMR, you can check out the website on http://www.totalmotionrelease.com/

We were blessed to take a trip to Disney World during spring break. We flew to Orlando and met up with Chad and his family (Beau's brother) from Fort Myers, FL. We had an awesome time together...wish we lived closer because it was so heartbreaking when we had to say goodbye. Allison still talks about that trip all the time. It was an expensive trip but I know she'll remember that trip forever...special bonding time with her cousins. Kaylee did awesome traveling...she's our experienced little traveler. We've been lucky to spend a lot of family time together during our camping expeditions. We spent some quality time in Brazos Bend south of Houston, Guadalupe state park, Goliad state park, and Goose Island state park. We bought a bike trailer for our girls during our trip to Brazos Bend ..that was a great investment. I think we rode around the trails for 2 hrs one day just enjoying the scenery. Kaylee enjoyed the ride so much that she cried every time we stopped. She must of loved the bouncing around motion because she fell asleep during our excursion. Camping has been an awesome time for us. We don't do much but just rest & relax. Beau claims he sleeps so much better in our camper then at home. It really is relaxing and peaceful!

Here are some pictures of our trips these last few months. We hope you enjoy them! Feeling exhausted to no end. Heading to bed. More to blog about later, including our dodgeball tournament on Saturday, birthday party at Chuck E Cheese, and our upcoming trip to the 1p36 deletion conference in Utah next weekend.

Almost a year ago! Counting my blessings...

2010-01-11T23:25:00.002-06:00

I can't believe its been 1 year since Kaylee's 1st seizure. I remember very little of that day. As much as we knew that seizures could be part of Kaylee's future, nothing prepared me, any of us, for her neurologist words on January 19th, which were,"I'm sorry to say this but Kaylee's EEG shows modified hypsarrthymia also known as infantile spasms." I remember looking at Beau and just losing it. Beau at the time wasn't familiar with infantile spams, but he knew it was serious enough for me to cry. The rest of it seemed just like a blur which I think is a blessing in some ways. Our memories are double edged swords however. They rob us eventually of the things we wish so desperately to remember forever and ever but often, during some of the most difficult moments in our lives, usually the darkest, those times too begin to fade.

I am in complete awe of our sweet baby girl I see before me today. Kaylee has amazed me from day one and that has not ceased, for one second, to this day. I am in awe of my beautiful Allison and how she has grown and evolved and endured all that has been asked of her and all that she had to process and channel and deal with. I am in awe of my loving husband Beau and how he just got done what needed to get done, to provide for his family, remaining positive and optimistic, all the while caring so tenderly, nearly each and every evening for his youngest little love.

Seizures were such a huge and devastating part of our life at one time. Actually, Kaylee's life. It was, after all, her little brain that was being jostled relentlessly. We all however, lived and breathed Kaylee's seizures. Or rather we mostly held our breath. Our lives were consumed with counting seizures and watching for seizures. Allison even would yell out,"seizure", when she was having a cluster. How sad is that? Our lives were once dictated by guessing,"Do we go up on dosage? Do we go down on dosage? Is the dosage EVEN working? I shared with someone awhile back, that Kaylee's seizure time was a truly dark, dark time. In many ways darker then the 1p36 deletion diagnosis. At least with her 1p36 diagnosis we knew exactly what we are dealing with and what we need to do next. Not true for Epilepsy. The doctors are guessing just as much as we are and nothing is more discouraging as to see your neurologist face looking defeated because she is not particularly optimistic on the next medication choice. Seizures came out of the clear blue for Kaylee. One day turning blue and nonresponsive and the next week an EEG report that read like a really, really bad horror movie script.

Kaylee's type of seizure disorder, Infantile Spasms, is referred to as a catastrophic form of Epilepsy. Not what parents wants to hear. It is often very difficult to bring under control and most often results to severe developmental delays. We watched our once smiley little girl, leave us. Leave us like, nobody was home, leave us. No smiles. No expressions what so ever. She stopped eating well. She just STOPPED. Our journey from and through Infantile Spasms was relatively brief, compared to some, but it was still dark and agonizing. In the end, after a month of trying, Kaylee found her miracle in a drug called ACTH that little held hope would work. That was a gift. Kaylee has found seizure freedom for almost a year now, February 17th to be exact.

I say that I don't take Kaylee's seizure freedom for granted but do I? Have I become too comfortable and confident that she remains seizure free on a very low dose of medication? Lord I hope not. Kaylee has an amazing doctor at Driscoll children's hospital here in Corpus Christi, Dr. Deline. She has been a source of encouragement and has rejoiced alongside us in Kaylee's progress.

During this past year, our family has witnessed the most incredible outpouring of love and support from our family, friends, and complete strangers. More kindness and compassion and unselfishness, then we could have ever, ever imagined. I have, along the way, also met the most magical children and families that I would have never had the opportunity and the privilege of meeting had it not been for this journey. I have watched with immense joy and hope, the children and families who are accomplishing many wonderful milestones, some small or big, but equally awesome accomplishments. I have also watched with equal pain and sorrow, the faces of families whose children would not make it. A year ago I would never, in my wildest dreams, have imagined having to watch parents and siblings and loved ones, say goodbye and journey forward in this life, without their precious children. That part of the journey I will never be able to reconcile.

A year ago, our family found strength in each other, as we united, with one goal and one goal only and that was to see this innocent child through the unimaginable. And here we are a year later all of us all together taken to the edge once more and brought back because of the will and spirit of a tiny precious baby girl. Kaylee Ashlyn and her presence and entry into our family is what we have been waiting for all of our lives. She has changed us and shaped us and empowered us to be the people we are today. We give thanks to God for leading us, sheltering us and covering us in His amazing grace so we can proclaim once more, how incredibly blessed and how humbly thankful we are. No one knows what tomorrow will bring or the day after that, or what awaits us around the next corner but what I do know, is that for today, in this moment, we rejoice.

Happy New Years 2010!

2009-12-31T15:40:00.001-06:00

We bid farewell to this past year with a mix of emotions. We enter into 2010 with much of the same. Uncertain of what lies ahead for any of us but equally confident that the faith by which we have relied on thus far, to see us through, will continue to be our ultimate guide. We look to God tonight and thank Him for His unwavering, unconditional love, even and most especially when we have questioned yet another obstacle placed before our littlest love. We are indeed blessed and look to 2010 with great hope. With that hope and steadfast faith, we will no doubt continue to find our way.

Our family wishes you all a very,very Happy New Year, abundant in love and laughter and overflowing with health and happiness. I have never been big on resolutions but thought I'd leave you with this. My wish is that I might live a little closer to these beautiful, simple words.

"People are often unreasonable, illogical, and self-centered; Forgive them anyway. If you are kind, People may accuse you of selfish, ulterior motives; Be kind anyway. If you are successful, you will win some false friends and some true enemies; Succeed anyway. If you are honest and frank, People may cheat you; Be honest and frank anyway. What you spend years building, someone could destroy overnight; Build anyway. If you find serenity and happiness, They may be jealous; Be happy anyway. The good you do today, people will often forget tomorrow; Do good anyway. Give the world the best you have, and it may never be enough; Give the world the best you've got anyway. You see, in the final analysis, it is between you and God; It was never between you and them anyway."

Mother Teresa~

Christmas Bliss....Serenity!

2009-12-27T10:00:00.012-06:00

I'm so blessed....

I'm so blessed to have such a wonderful family...precious kids and a loving husband. My husband Beau left me speechless this Christmas. He always goes above and beyond every Christmas and loves surprising me. We always tell each other not to exchange gifts but somehow that never happens. He always seems to amaze me and I always feel that I didn't do enough. Well this Christmas was very special...maybe because of all the ups and downs we faced over the year with our Kaylee bean. I opened my gift, an amazing, amazing diamond cross necklace. I saw it and was a goner from there. Well, Beau didn't stop there...he also wrote me a letter that took my breath away. The love poured onto this letter just gave me goose bumps. I would love to share it with everyone.

To my wife,

To my love...I am forever grateful to you for what you do everyday. You have given me two wonderful children that I would not change for the world. I have grown into a better man because of your dedication and commitment to our family. I am forever in debt to you for what you have done for Kaylee. You and only you saved our little girl! This is what you were put on earth for...saving Kaylee. You saved her from her horrible seizures due to your sense of details and dedication. Your demand of treatment and thereapy have been the success we see today, and that is why I am in debt to you.

You have been instrumental in the growth of our beautiful little Allison. She's so smart, beautiful, and caring...I look at her and see you. You truly are my rock! Everything is meant for a reason. God had a plan for us from day one. For us to meet and have the children we have today because he knew we were the right parents for the job. Still waiting to see what job he has for me though:) I know I'm not the easiest person to deal with but I just handle things differently.

I will be there for you through thick and thin. I will do whatever it takes to provide for this family to ensure we have a bright and loving future. What I gave you today is a small token of my thanks to you for being such a wonderful wife and mother. I love and need you more than you will ever know:) Wear this cross to give you the strength you need and to help you remember what is really important.

Love you today, tomorrow, and always

Beau

Do you see why I lost it?? My gifts finished with another present that revolves around the most important thing in my life, in fact they are my life: my family. I am blessed. Of course I already knew this and it wasn't because of the material gifts I received but rather the love that was expressed so unselfishly to me, by my children. By my husband. Our Christmas was amazing. Simply amazing. But my true gift, the ultimate gift is the gift of these beautiful souls that surround me. They are simply amazing. Not a moment went by on that day, especially in this very moment,that I wasn't reminded how blessed my life is.

A visit from Santa Claus

On Christmas eve, Santa claus came to visit grandmama's house. This Christmas was amazing because we spent it with our family. We are blessed to have such a big wonderful family. This Christmas was very special because we have a new addition to our family....beautiful Isabella Rose. She's 2 months old and is perfect in every way. She's our miracle baby along with our Kaylee bean. We are blessed to have two miracle babies in one room. They both seem to remain amazingly healthy. I think that guardian angels are watching extra vigilantly over them.

It was amazing to see the looks on Allison and Landen's face when they saw Santa Claus at the door. Allison couldn't stop staring and the first thing she did was give him a big hug. She looked very shy with her sheepish smile. She couldn't take her eyes off of him....it was as if she just witnessed a true miracle. Landen on the other hand wasn't to sure about Santa. He too just stared at him with his big blue eyes. At first, he didn't want anything to do with him, but once Santa mentioned toys his eyes lit up. We finally got Landen to sit on Santa's lap with help of bribery. It's amazing what candy and toys can do to a child. Allison was tickled to death when she got a cross from Santa.

A few days ago, we went to the mall to take some pictures with Santa. Allison picked out a cross from the treasure chest at church. At first, she wanted to give the cross to Kaylee which was very thoughtful of her. But as soon we arrive at the mall, Allison changed her mind and decided to give the cross to Santa. She figured that Santa would put her on the top list now. Santa at the mall was very shocked to get the cross. He kept hugging Allison and couldn't stop thanking her. If we looked closely at Santa, I think he had tears in his eyes. It was an awesome moment. Beau and I looked at each other and then to our children...we were overcome with emotion. Hard not to be when you have kids like ours. How the two of us managed to produce these remarkable children is beyond me.

It was a special moment to see Santa holding Isabella. It was so precious...Isabella is so beautiful just like a little angel. It makes you feel so blessed and thankful for these little moments. I just wanted to shout out to God and thank him for letting us witness this moment....it was truly magical. It makes you realize whats important in life. What Christmas is really about....FAMILY and our faith..being surrounded by your loved ones makes all your fears and worries just melt away. When we are all united we can move mountains.

Needless to say, the children really enjoyed Santa. I think our five year old Allison was pondering on Santa's voice. She kept saying wow that Santa sounds so much like uncle Matt. It took a lot of convincing that uncle Matt was at work and it couldn't be him. At the end, she clutched her cross and smiled everytime she looked at it. She kept saying, "mommy he did remember. He got me one too." I have to thank grandmama for that awesome touch. Grandmama has good connections with Santa.

The season for giving....The true acts of kindness.

Once again we are blessed to have such a thoughful family. Our 1p36 deletion support and awareness nonprofit organiaton launched a new website at http://www.1p36dsa.org/ You can support our organization by clicking on our website and donating to our mission of 1p36. Our mission states, "Helping individuals affected by chromosome 1p36 abnormalities overcome the obstacles they face to be able to lead healthy, happy and productive lives. We do this by providing support and education to their families and increasing awareness of chromosome 1p36 abnormalities in the public and medical community."

I am very proud of our nonprofit organization and website. I'm also very excitied that we officially got our 501c status. We are now able to get big named sponsors to support our mission and hopefully this will bring more public awareness worldwide.

A big heartfelt thanks to uncle Tim, aunt Beth, and cousin Erin in Seattle for donating $100.00 dollars to our 1p36 nonprofit organization. Your donation was the best Christmas present ever. We are honored and humbled by your support of our cause to raise much needed awareness of 1p36 deletion syndrome. Once again, thanks for your support. It means the world to us. We missed you guys at Christmas. It wasn't complete without the clan from Seattle and the Culvahouse clan from Florida. Hopefully next Christmas we can all be together...wouldn't that be a true miracle!

We also got an incredible heartfelt gift from Jim & Terri Philomeno (also known as Popeye & Grandmama) for donating $100.00 in honor of us to buy goats for third world countries. We have joined in the amazing miracle that helps children and families in need. These goats nourish hungry children and families with healthy milk, cheese, and yogurt. Goats also give a much-needed income boost by providing offspring and extra dairy products for sale at the market. Thank you Popeye and grandmama for making a difference in someone's life. This is what Christmas is all about...making miracles for others. What an awesome gift...helping a familiy make all their dreams come true.

You can click on www.worldvisiongifts.org/goat and help make a difference in a child's life. Its a great website. You can buy animals, water wells, help with education, hunger...the list goes on. What an awesome feeling to help others in need especially children!

Overall, we had a wonderful Christmas. Its amazing how fast the year goes by. Its been a rough year for us but we are now stronger and better people because of it. I wouldn't change a moment of it. It made us to who we are today....a better united family. We will continue our journey to 2010 with so much love and compassion....a journey of challenges and obstacles, a journey of beauty, grace, and hope.

For now I trust in Kaylee. In God. I circle back to what I have known for a very long time and that is: I never had the control to begin with.

God grant me the serenity
to accept the things I cannot change;
courage to change the things I can;
and wisdom to know the difference.

Living one day at a time;
Enjoying one moment at a time;
Accepting hardships as the pathway to peace;
Taking, as He did, this sinful world
as it is, not as I would have it;
Trusting that He will make all things right
if I surrender to His Will;
That I may be reasonably happy in this life
and supremely happy with Him
Forever in the next.
Amen.

--Reinhold Niebuh

Happy Thanksgiving Day!

2009-11-26T10:19:00.007-06:00

This Thanksgiving I feel especially thankful. Not in the "Let's pause for a moment to be thankful" way. I have been feeling so aware for weeks of all that we have in our life, all that is good and all that we have to be thankful for.

1. I am thankful for the friends and family in our life who support and love us, make us laugh, care for us -- and in doing so, keep us going.

2. I am thankful for all of our therapists who have become such an important part of our life, who support us, give us knowledge, and who have a deep affection for and a vested interest in the quality of life of our little girl.

3. I am thankful for the people we have met in this process, our 1p36 family, the other fighter parents who work tirelessly to raise awareness, to increase funds, to change the future -- because if we don't, who will?

4. I am thankful for the strangers who care, care enough to learn, care enough to spread the word, care enough to help, care enough to bless us with such incredible kindness -- strangers who have become friends because they chose not to look away.

5. I am thankful for the most incredible partner, friend, husband; I am thankful for his unwavering love, his honesty, his ability to just "get it" and his integrity in fighting for not only our daughter, but for what is right.

6. And I am thankful for my girls, my sweet, darlings, beautiful Allison & Kaylee, for their unconditional love, patience, for their resilience, for their love of adventure, and for their unending zest for life.

7. Most of all, I'm thankful for Kaylee's health and her overall progress. Kaylee has been seizure free since February 17, 2009..a little over 9 months! That's been a big blessing in itself...Praise God, we have been blessed and I'm forever grateful for that.

Happy Thanksgiving everyone. On this day, may you be surrounded by joy and laughter and those you love. May we each pause for a moment, amongst the chaos of the day, and look with gratitude on the blessings and the miracles that encircle us, ever mindful of those who continue to walk in the darkness of uncertainty. Peace and love to you all. Thank you for being part of our lives.

Big accomplishments for Kaylee & Isabella our true miracle!

2009-11-10T09:11:00.003-06:00

Big Accomplishments...Kaylee is a big girl!

We are so proud of our little 15 month old love bug. On thursday, Nov 5th, Kaylee sat up unassisted for over 5 minutes...that's a hugh accomplishment! Then, the next day Kaylee sat up for over 25 minutes only falling over 3 times....we just picked her back up and she continued to play with her toys. It brought goose bumps watching her sit up like a big girl and play with her toys. She definitely has come a long way in the last 3 months. For the longest time, she avoided all toys...it was to the point where she wouldn't even look at them. Now, she wants to touch and play with them. I was amazed how well she held herself up while manipulating with her toys...she looked so grown up. Its these little moments that makes everything so well worth it...all the therapies, the emotional roller coaster rides, and so on. We can finally see light at the end of the tunnel, a rainbow after a big storm....a great sense of hope and peace. Eventually everything will work out somehow.

Kaylee has come a long way in the last 6 months. She can now sit up unassisted for over 20 minutes as I mentioned earlier. She plays with toys, vocalizes more with different sounds not so much babbling but she is getting there. She just learned to stick out her tongue while trying to mimic us...it's so precious. Kaylee has tolerated her stander very well for at least 30 minutes daily. As long we play her signing time she's a happy little girl. Thank God for baby Signing Time...its been our savior during all her therapies. Kaylee can also be on all fours now with assistance of course. She's learning to coordinate her arms when we move her knees along the floor. She still has a long way towards crawling... everyday is a working progress.

Isabella Rose... Our true miracle!

We just got back from Florida on Monday. Our little niece Isabella was born on Oct 23rd and was rushed to NICU for breathing difficulties. At first, the doctors thought it was just wet lungs but 2 days later it progressed to severe respiratory distress. Little Bella was fighting for her life. They had to put her on life support, a vent to help her breath. The doctors suspected she might have a severe viral infection but couldn't pin point the exact cause of her lung issues. At one point the doctors told her parents, Carrie & Josh, that their little girl might not make it and that we needed a miracle. That is the most devestating news anyone can possible hear..that their little precious girl might not make it. We are all shocked and devestated. Isabella is a full term baby and weighs over 7 lbs. How can this happen to her? She's so innocent, beautiful, and perfect in so many ways.

Its amazing how a horrible event like this can bring everyone together. We prayed and prayed and prayed...we had prayer chains all over world praying for precious Isabella. Our whole family flew to Florida to be with Josh & Carrie during their darkest hours. In the end, our prayers were answered when Isabella was discharged on November 6th. She is now at home with her parents who absolutely adore her. I truly believe in miracles...this was definitely God's work! Miracles can happen..God is so good!

Overall, we had a wonderful family reunion in Florida despite the reasons that brought us all together. One thing we learned throught out this all, the importance of family, unconditional love, and hope. We are truly blessed to have beautiful Isabella in our lives. She will continue to bring so much richness and happiness to us all. We love you sweet angel!!

We spent Halloween with all of our family in Florida. Allison was dressed up as Thumbelina and Kaylee was the cute little strawberry fairy. Of course Kaylee didn't tolerate her costume for too long. She cried in most of the pictures we took of her...I guess I couldn't blame her since it was in the 90's with little to no breeze. Allison and Kaylee had a blast with all of their cousins. Cousin Emily just adored little Kaylee...she was like a mother hen who couldn't leave Kaylee's side for a minute...too cute for words. We all went door to door on this one street that was blocked off for Halloween. There were many haunted houses, games, and candy. The kiddos had a blast and the daddy's had fun scaring them with their creepy masks. Sometimes you wonder who enjoys it more...the kids or our husbands? Overall, we had so much fun considering the circumstances that brought all of us together. We are just blessed that everything turned out on a postitive note....Isabella is safe & sound in her own crib with her parents watching her every breath....a true miracle!

Our first 1p36 fundraiser is finally over...a great success!

2009-10-05T09:57:00.001-05:00

HOME/GARDEN SHOW: The 10th annual fall Home & Garden Show is from 2 to 7 p.m. Friday, 10 a.m. to 7 p.m. Saturday and 11 a.m. to 7 p.m. Sunday at the American Bank Center Convention Center. The show features more than 100 of the Coastal Bend’s premier companies displaying the latest products and services for area homeowners, educational seminars and gardening tips. Cost: $5/adults; $3/seniors, military; free/ages 18 and younger. Free admission today for seniors/military. Information: 882-2071. Also there will be a booth for the non-profit organization 1p36 Deletion Support and Awareness Group selling raffle tickets for $5 to raise funds for the newly formed organization. Information: 361-658-9799 or 361-438-4975.

Our very first 1p36 fundraiser is officially over! We had our raffle drawing done on Saturday Oct 2nd and the lucky winner is Jared Newson from Corpus Christi Texas. The grand prize consisted of 2300 dollars worth of wonderful prizes and giftcards which were donated from local businesses within our community. We ended up raising $3,000 dollars and increased 1p36 awareness along the way...not bad for pulling this off in 3 weeks prior to our main event, the Home Garden Expo 2009! Our main goal from the start was met which was to bring public awareness to our community. The Home Garden expo was an excellent opportunity for just that...we passed out over 1500 handouts and business cards and sold over 400 raffle tickets in three days. I think we did pretty good considering that only 2,000 people showed up at the Home Garden show. Unfortunately it was a slow event but overall we had a great turnout at our booth. Everyone was very curious and asked many questions which I loved answering. It was great talking and connecting with complete strangers. If we could make a difference in one person's life then all of our efforts with this fundraiser was well worth it!

We would like to thank each and every single person and sponsors who donated or bought raffle tickets to help with our 1p36 DSA nonprofit organization. None of this would have been possible without you and we are honored and humbled by your support of our cause to raise much needed awareness of 1p36. We'd also like to thank our family and friends for donating their time to help us setup and man the booth at the Home Garden show and the countless time to sell raffle tickets. Special thanks to Phoenix and our 1p36 board of trustees, we really appreciate all of your support and shipping business cards and brochures at the last minute. Thanks for the fast response! Your support means the world to us and the proceeds from the raffle will be going towards education, research, and support of our 1p36 families.

Through Rose-Colored Glasses

2009-09-22T08:15:00.004-05:00

Here is a story written by Caitlin, a 20 yr old, an older sister of precious 2 yr old Zoey Grace. Zoey's family is amazing especially her mom who is a mother of six amazing children. Their story is very inspirational...always battling each day with such grace, courage, beauty, and hope. Zoey and her family face so many challanges and obstacles since she entered into this world...Down syndrome, AV canal complete and transient myeloproliferative disorder, a tranisent form of leukemia, in-utero stroke, and infantile spasms. In spite of all her trials, Zoey is a feisty fighter girl who embraces life and everyone around her....just like my Kaylee bean.

After reading about their story, it makes me feel grateful for my beautiful Kaylee and my wonderful family. I will wake up everyday with so much hope and love in my heart. I can choose my destination..feeling sorry for myself or embrace life...I definitely choose life, the good and the bad.

Through Rose-Colored Glasses

By Caitlin Needham

MY MOTHER IS as blind as a bat. She literally could not function without her contacts or her glasses. I’ve seen some pictures of her in her childhood, and let me tell you, she wore some nice, thick glasses. My dad’s eyes are pretty much the same. He has recently bought a pair of reading glasses (from what I understand, this is some rite of passage in middle to late adulthood). My sister Jessica has worn glass- es since fifth grade, and she too cannot see a thing without glasses or contacts. But my sister Taylor has perfect vision. My brothers Jake and Joe, we have yet to find out.

Then there’s me.

I have 20/20 vision. Nothing medically wrong with my sight. But as of the last year and a half, I have begun “wearing” a type of glasses. I guess you could say they’re rose-colored glasses. Typically, that phrase carries a negative connotation: ignorance, denial, feigned optimism, perhaps even foolishness. But is this really so? Or is seeing the world with a soft pinkish glow actually a gift of sorts?

I would support the latter.

My littlest sister, Zoey, came into my life at a time of grayness. By gray I mean that I was going through the motions of life, skat- ing by, taking all for granted. My existence up to that point was a self-centered one that revolved around my schedule and my agenda only. My days were filled with a monotonous routine of school, an after-school job, and socializing with friends as I saw fit. There was no color. Even the warmest, sunniest days seemed dull. I found it much easier to remain apathetic in so many areas of my life, rushing around and trying to do what was best for only myself.

But everything changed the day I met Zoey. Though she made a relatively smooth entrance into the world, her tiny heart strained and pumped, trying to oxygenate her fragile body, compromised by an atrioventricular canal defect. Instead of taking her home with us, her home became the NICU at Children’s Hospital Los Angeles. Underneath a tangle of tubes and wires, her ferocious spirit battled for life, giving me a run for my money in the courage zone. As I gazed at her, she wordlessly told me, “Slow down. Stop and look around for a minute.”

So I did. And that’s when Zoey handed me a pair of glasses with rose-colored lenses.

My new glasses felt a little funny. The discomfort stemmed from somewhere deep inside myself, in a place that knew that my priorities needed to be reordered. I wanted to step outside of myself and begin to take steps toward looking forward instead of backward. I wanted to be the glass-half-full type, not someone who dwelled on setbacks, adversity, or doubt. So even though I’d never really worn glasses like these before, and I wasn’t even sure they fit correctly, I gave them a shot.

It was amazing: When I put on the glasses, everything took on color. The senseless seemed more manageable, and hope over- took discouragement. With my newfound faith and optimism, ev- erything seemed a little brighter, a little more vibrant. Sometimes doubts would surface—was I really cut out to wear these glasses? But as I persisted in a new way of seeing the world, the twinges of doubt became fewer and father between. More often than not, I felt warmth and joy shining through the usual gray of my life.

But new challenges surfaced as time passed. I struggled to bal- ance my increasingly busy schedule, and I began to worry about my future and about Zoey. Her medical setbacks seemed overwhelming and daunting. Zoey had arrived with a few unexpected tagalongs— namely, transient myleoproliferative disorder (a type of leukemia), feeding issues, and a middle cerebral artery infarction, more com- monly known as a stroke.

Each diagnosis was devastating enough on its own, but when all these issues teamed up at once, there seemed to be nothing we could do but wait and try to make sense of the senseless. Percentages and statistics intimidated my courage. The glasses seemed powerless to soften life’s harsh truths. There were times I chose to take them off. There were times I threw them across the room, there were even times I contemplated stepping on them. When Zoey developed infantile spasms, a devastating form of epilepsy, it seemed that she would never be cut a break. She seized throughout the day, fogged in an epileptic haze. But Zoey never gave up, so I didn’t either. And through rose- colored glasses, I came to see the stark contrast of all that is worth- while and meaningful and all that is void and purposeless.

How did such a little baby know about these glasses? How did she know to give them to me? The amazing thing is, Zoey has a pair herself.

She was born wearing them.

The blueprints for her glasses were located on her third 21st chromosome, and they genetically formed right into her very being. In every cell of her body she contains the secret to living a beautiful life: optimism, perseverance, and joy. Zoey is a world-class hugger and snuggler. She willingly thrusts herself into the arms of strangers. She waves to anyone and everyone who passes by. She dances and wiggles when she hears the beat of a drum. She is a professional kiss- blower, offering not one kiss, but twenty to the privileged recipient. She tolerates multiple interruptions for g-tube feedings and medica- tions a day, though she’d rather be rolling around the house to keep up with her brothers. Unlike nearly every other two-year-old, Zoey is most content sitting on the lap of her mommy or daddy, reading books, poised and ready to turn the pages. She endures endless blood draws, checkups, invasive diagnostic procedures, and toxic chemicals being pumped in her veins so that she might overcome her latest medical enemy, AML, acute myelogenous leukemia.

The day Zoey was diagnosed with leukemia, I went through a gamut of emotions. I felt despair and anger. I wished I had been diagnosed with cancer instead of my precious sister. I felt numb. I felt invincible and resolute that Zoey would overcome such a terrible dis- ease. I felt weary. I felt strong because I wanted to provide strength. Highs followed lows and vice versa. And, though I felt a little silly saying it, I was heartbroken to think of Zoey’s little head, bald from chemotherapy. I couldn’t imagine her without her auburn curls. I dismissed the thought, telling myself, “It will grow back. She can be bald for a while and have a lifetime to grow back her hair.”

When chemotherapy commenced, I prepared myself to see Zoey with a new hairdo, or lack thereof. Rounds one and two came and passed, and her curls were intact. Every time I would go to visit Zoey or see her between rounds at home, I prepared myself to see her hair thinning and disappearing, but that day never came. Now, as she completes her sixth and final round of chemo, Zoey’s hair is as long, thick, curly, and wild as ever. Between the smiles and the curls, she looks perfectly healthy. Her reddish brown waves and curls shim- mer in the sunlight. Ringlets dangle down her neck in flawless spi- rals. She is a work of art. She is a warrior in every sense of the word, pressing on and fighting the good fight without flinching. A cancer patient, a stroke survivor, an open heart surgery alumna, an epileptic who hasn’t seized in a year, a sister, a daughter, an inspiration.

Zoey’s rose-colored glasses are not a mark of her ignorance or her foolishness; they are a symbol of her ability to persevere in an unfair world. She didn’t have to buy these glasses, shop around for them, or try them on for size, they just came perfectly tailor made for her. For me, wearing glasses like Zoey’s hasn’t come so naturally, but I am learning. Down syndrome is beyond human control. But many other things are not. I have been empowered with the power to choose. I can choose an optimistic attitude. I can choose to take the time to appreciate joy amidst pain. I can choose to push on during the times when giving up seems like an easier option. I can choose to rejoice in the unimaginable promise of my life and Zoey’s life. I can choose to embrace this ephemeral existence for all it’s worth. I can choose to share my point of view with others.

And from my point of view, life is looking pretty rosy these days.

Such beauiful writing and well said...I can't agree more! I need to start wearing my rose colored glasses and never take them off for a minute.

Acts of kindness

2009-09-05T10:14:00.004-05:00

Kaylee has a gentley used, the Jenx monkey stander, and she is absolutely loving it!!! I was very surprised to see Kaylee stand in it. At first, I thought that she was surely too short for it, but to my amazement it fits her perfectly. We first put her in it and did all the adjustments that was needed. The entire time we were fiddling with it, Kaylee just stood there watching us. I thought for sure she was going to cry, but she was entertained with her little portable dvd player watching signing times. She tolerated it for about 30 minutes before she actually fell asleep in it....too precious. Our little girl is growing up before our eyes. We've been putting her in the stander for 30 minutes everyday for the last 2 weeks. We've seen a big difference in her ability to bear weight on her little leggers. She can now stand up in our laps for over a minute...big improvement. If I hold her by her chest, she can slowly take some steps across the room using her step reflex. I'm glad that I took Kim & Melanie's advice during the Indy conference about using a stander now verses when Kaylee turns two. I think this will tremendously help her strengthen her leg muscles and her hips...hopefully she can learn to walk a lot sooner now. Thanks guys for the great advice!

Our physical therapist Pam was looking out for us when I told her that I thought Kaylee was ready for a stander. I was going to go out and spend over a thousand dollars to purchase one hoping that our insurance company would reimburse some of it back. I just didn't want to wait until Kaylee turned 18 months and then 3-4 months later to receive it. So, I was excited when Pam had one waiting for us when we went in for therapy that day. She told me that the family that owned it, their little 4 yr old out grew it and was willing to sell it to me. So when I called the family to see if we can work something out, I was truly touched and humbled when the mother said that she wanted us to have it. I wanted to pay her something or at least take her family out to dinner, but she refused it saying that she wanted to see a good family get some good use out of it. I'm hoping I will see her at the Home Garden Expo next weekend so I can at least give her a thank you card with a gift card or something. I feel the need to give her some kind of token of appreciation. I know once Kaylee outgrows the monkey, we will definitely donate it too so someone else can benefit from it like we did.

We'd like to thank the Taylor family and their daughter Lily Grace for your act of kindness, the generous gift of this stander. We will cherish these experiences together and from the bottom of our hearts, thank you.

We're back home!

2009-08-26T10:30:00.000-05:00

We are so glad to be back home and at the same time sad that we have to say goodbye to our family and friends. We left for Indianapolis for our 1st 1p36 deletion syndrome conference during July 31-Aug 3rd. We met such incredible families a total of 32 beautiful angels just like Kaylee. It was an amazing week. I didn't expect to feel so much inspiration and joy with everyone there. I guess I didn't know what I would be feeling...but it felt so normal and peaceful...we are complete strangers but I felt the connection and the bond from one family to the next...just like long lost friends...one big family. It felt good to know we weren't alone that other families were facing the same thing. We didn't have to explain everything...we could just express our feelings without judgement. It was awesome knowing that others care for Kaylee too and aren't afraid to interact with her or ask questions. It was definitely like a family reunion! I've learned so much during the conference from different doctors and therapists, but the things I've learned the most came from each other's personal experiences, struggles, and highlights. These personal experiences is something I will always cherish and be grateful that God put these wondeful families in our lives.

Each 1p36 child is so unique and each one of them have their own time frame of when they will reach their next milestone. A certain few of these children appear from the outside, to be flying through life and it's milestones, but many harbor within them, medical issues and impending obstacles, waiting for an opportune time to show their faces. Others fight everyday, every moment, just to be here with families who would move mountains to keep them here with them. One thing they all have in common is that they are all brave mighty fighters. Our children indeed teach us so much about life and how to be grateful for the "little" things. I am forever grateful for my Kaylee "my little miracle." Watching every parent interact with their child was priceless. It made me feel a sense of calmness and joy...a feeling that everything is going to be okay along our journey. Kaylee is only 1 years old but I felt if other parents who has been down our path can do this then we can too. It was very empowering feeling! Overall, our first conference was a unforgettable event that I will always cherish and will definitely look forward to next year. I cannot begin to tell you how much all of these families and their beautiful children have come to mean to us.

If you would like to learn more about our conference, please follow Alayna or Whitney's (Adventures of raising a disable child) blog sites. They did an awesome job recapturing all the events, pictures, and speakers. Thank you everyone for making this conference so special to us. We only captured a few pictures because we left our camera in our room....wish we took more of them.

A beautiful poem...must read!

2009-07-29T09:00:00.003-05:00

This is simply beautiful… it’s a must read for families just beginning their Special Needs journey, just like Welcome to Holland.

Welcome to the Club
(from Jesswilson.wordpress.com)

My dear friend,

I am so sorry for your pain.

Don’t worry; no one else sees it, I promise. To the rest of the world, you’re fine. But when you’ve been there, you can’t miss it.

I see it in your eyes. That awful, combustible mixture of heart-wrenching pain and abject fear. God, I remember the fear.

I see it in the weight of that invisible cloak that you wear. I remember the coarseness of its fabric on my skin. Like raw wool in the middle of the desert. You see, it was mine for a time.

I never would have wanted to pass it on to you, my love. I remember so well suffocating under the weight of it, struggling for breath, fighting to throw it off while wrapping myself in its awful warmth, clutching its worn edges for dear life.

I know that it feels like it’s permanent, fixed. But one day down the line you will wake up and find that you’ve left it next to the bed. Eventually, you’ll hang it in the closet. You’ll visit it now and then. You’ll try it on for size. You’ll run your fingers over the fabric and remember when you lived in it, when it was constant, when you couldn’t take it off and leave it behind. But soon days will go by before you wear it again, then weeks, then months.

I know you are staring down what looks to be an impossibly steep learning curve. I know it looks like an immovable mountain. It is not. I know you don’t believe me, but step by step you will climb until suddenly, without warning, you will look down. You will see how far you’ve come. You’ll breathe. I promise. You might even be able to take in the view.

You will doubt yourself. You won’t trust your instincts right away. You will be afraid that you don’t have the capacity to be what your baby will need you to be. Worse, you’ll think that you don’t even know what she needs you to be. You do. I promise. You will.

When you became a mother, you held that tiny baby girl in your arms and in an instant, she filled your heart. You were overwhelmed with love. The kind of love you never expected. The kind that knocks the wind out of you. The kind of all encompassing love that you think couldn’t possibly leave room for any other. But it did.

When your son was born, you looked into those big blue eyes and he crawled right into your heart. He made room for himself, didn’t he? He carved out a space all his own. Suddenly your heart was just bigger. And then again when your youngest was born. She made herself right at home there too.

That’s how it happens. When you need capacity you find it. Your heart expands. It just does. It’s elastic. I promise.

You are so much stronger than you think you are. Trust me. I know you. Hell, I am you.

You will find people in your life who get it and some that don’t. You’ll find some that want to get it and some that never will.

You’ll find a closeness with people you never thought you had anything in common with. You’ll find comfort and relief with friends who speak your new language. You’ll find your village.

You’ll change. One day you’ll notice a shift. You’ll realize that certain words have dropped out of your lexicon. The ones you hadn’t ever thought could be hurtful. Dude, that’s retarded. Never again.

You won’t laugh at vulnerability. You’ll see the world through a lens of sensitivity. The people around you will notice. You’ll change them too.

You will learn to ask for help. You’ll have to. It won’t be easy. You’ll forget sometimes. Life will remind you.

You will read more than you can process. You’ll buy books that you can’t handle reading. You’ll feel guilty that they’re sitting by the side of the bed unopened. Take small bites. The information isn’t going anywhere. Let your heart heal. It will. Breathe. You can.

You will blame yourself. You’ll think you missed signs you should have seen. You’ll be convinced that you should have known. That you should have somehow gotten help earlier. You couldn’t have known. Don’t let yourself live there for long.

You will dig deep and find reserves of energy you never would have believed you had. You will run on adrenaline and crash into dreamless sleep. But you will come through it. I swear, you will.

You will find a rhythm.

You will neglect yourself. You will suddenly realize that you haven’t stopped moving. You’ve missed the gym. You’ve taken care of everyone but you. You will forget how important it is to take care of yourself. Listen to me. If you hear nothing else, hear this. You MUST take care of yourself. You are no use to anyone unless you are healthy. I mean that holistically, my friend. HEALTHY. Nourished, rested, soul-fed. Your children deserve that example.

A friend will force you to take a walk. You will go outside. You will look at the sky. Follow the clouds upward. Try to find where they end. You’ll need that. You’ll need the air. You’ll need to remember how small we all really are.

You will question your faith. Or find it. Maybe both.

You will never, ever take progress for granted. Every milestone met, no matter what the timing, will be cause for celebration. Every baby step will be a quantum leap. You will find the people who understand that. You will revel in their support and love and shared excitement.

You will encounter people who care for your child in ways that restore your faith in humanity. You will cherish the teachers and therapists and caregivers who see past your child’s challenges and who truly understand her strengths. They will feel like family.

You will examine and re-examine every one of your own insecurities.

You will recognize some of your child’s challenges as your own. You will get to know yourself as you get to know your child. You will look to the tools you have used to mitigate your own challenges. You will share them. You will both be better for it.

You will come to understand that there are gifts in all of this. Tolerance, compassion, understanding. Precious, life altering gifts.

You will worry about your other children. You will feel like you’re not giving them enough time. You will find the time. Yes, you will. No, really. You will. You will discover that the time that means something to them is not big. It’s not a trip to the circus. It doesn’t involve planning. It’s free. You will forget the dog and pony shows. Instead, you will find fifteen minutes before bed. You will close the door. You will sit on the floor. You’ll play Barbies with your daughter or Legos with your son (or vice versa). You’ll talk. You’ll listen. You’ll listen some more. You’ll start to believe they’ll be OK. And they will. You will be a better parent for all of it.

You will find the tools that you need. You will take bits and pieces of different theories and practices. You’ll talk to parents and doctors and therapists. You’ll take something from each of them. You’ll even find value in those you don’t agree with at all. Sometimes the most. From the scraps that you gather, you will start to build your child’s quilt. A little of this, a little of that, a lot of love.

You will speak hesitantly at first, but you’ll find your voice. You will come to see that no one knows your child better than you do. You will respectfully listen to the experts in each field. You will value their experience and their knowledge. But you will ultimately remember that while they are the experts in science, you are the expert in your child.

You will think you can’t handle it. You will be wrong.
This is not an easy road, but its rewards are tremendous. It’s joys are the very sweetest of life’s nectar. You will drink them in and taste and smell and feel every last drop of them.

You will be OK.

You will help your sweet girl be far better than OK. You will show her boundless love. She will know that she is accepted and cherished and celebrated for every last morsel of who she is. She will know that her Mama’s there at every turn. She will believe in herself as you believe in her. She will astound you. Over and over and over again. She will teach you far more than you teach her. She will fly.

You will be OK.

And I will be here for you. Every step of the way.

With love,
Jess
Jesswilson.wordpress.com

Kaylee's birthday bash...1 yrs old!

2009-07-24T11:51:00.007-05:00

I can't believe my little girl turned one years old yesterday. As usual, she first woke up with her trademark smiles especially after singing the happy birthday song. It was so precious..she loves that song..she just couldn't stop smiling and giggling. After loving on her, we got ready for Kaylee's speech and feeding therapy. I know why on her birthday..she deserves a break right. Well we decided to go since she loves speech therapy and its only a 30 minute session. So, we made into a family affair. Our family of four cheered Kaylee on and sang songs to her. Did I mention she loves the ABC song..she can't get enough of it. It was a great opportunity to include Allison in the mix of things. Allison is such an awesome big sister, very protective and proud of her little sissy. It's so cute to watch Allison interact with Kaylee. They played with uncooked pinto beans together. Kaylee seemed to like the feeling of the beans...she kept grabbing them and mixing them around the container causing a mess. Once again I was amazed that she's touching and exploring with different things. The beans was definitely a good idea...Megan our speech therapist is awesome. Kaylee loves her and we are glad she's part of Kaylee's care team.

Kaylee was a big hit at her Chuck E Cheese birthday party. She loved every minute of it and I was pleased with the turn out. She was getting tired towards the end but its expected with all the activity going on. Kaylee looked adorable in her pink dress...just like a princess. She was a good sport wearing her princess birthday hat...so precious. Kaylee enjoyed everyone's company and loved all the attention. She didn't seem to be overwhelmed with all the lights and noise, actually I think she was intrigued by them. She was very alert taking everything in and watching everyone dance and play. She wasn't to sure about Chuck E Cheese..she just watched him and turned her head away. At least, we got a good picture of them together. I'm so glad we brought her high chair. She just sat there and everyone came to her like in a true princess fashion. I was very hesitant to give her any food since she gagged last time I gave her bread. She transitioned to stage 3 baby food very well. She loves fruits and yogurts pretty much anything sweet...she must take after Grandpa Bruce and her big sissy. I've tried the little stars that dissolves and she tolerate them pretty well. So, we decided to be brave and give Kaylee some pizza. I was so surprised to see her eat the cheese part of the pizza. She chewed it up instead of swallowing it or gagging...I was so amazed. She drank some tea though a straw and tried some birthday cake. It was too cute to see her eyes light up after giving her some frosting...it was priceless. She kept wanting more but I limited the amount to avoid any tummy aches. Kaylee had some cute baby friends....her little boyfriends. The two little boys were Kaylee's age and both of them have Down Syndrome. Brayden and Jack are so precious and loving. They are so happy always laughing and smiling. Kaylee is so lucky to have such wonderful little friends. It was so precious to see them staring at each other...Kaylee loved the attention. Overall, we had a wonderful time and couldn't be more pleased with the turnout. It would be a day that we will never forget and always treasure. We are so blessed to have such loving and supportive family and friends. Thanks again for your prayers and support!

God Bless you all!

Happy 1st birthday Kaylee!

2009-07-20T23:11:00.010-05:00

Kaylee's entrance into this world marked the commencement of a miraculous journey- a journey of challenges and obstacles, a journey of beauty, grace, and hope. She made her entrance with a small deletion on her 1st chromosome, and so began our family's walk with 1p36 deletion syndrome. Despite a small deletion on her 1st chromosome, Kaylee provided our family with multitude of blessings, trials, and lessons. Her small body arrived with feeding difficulties, acid reflux, infantile spasms a catastrophic seizure disorder, hearing loss, umbilical hernia, blocked tear duct, farsightedness in both eyes, and hospital stays at Driscoll Children's hopsital in Corpus Christi. As always, Kaylee flaunted her feisty spirit and persisted on to complete a two month duration of ACTH therapy a very strong sterioid injections. We are blessed to say Kaylee's seizures finally were brought under control with ACTH therapy, a drug that gave Kaylee the upper hand on epilepsy. But to limit Kaylee's existence and achievements to the confines of a genetic condition would be the ultimate disservice to our little fighter girl and our God. Kaylee is a testament of God's faithfulness and timing. Kaylee is a beacon of light in a shadowy world of hardship. She is an illustration of perfection in her innocence and resiliency. She is a representation of all that is good. She is a daughter and a sister who has been the guide for her family and their faith on a walk into the unknown. She is an expert teacher on living each day and each moment in the present. Though her strides thus far have already been numerous, she undoubtedly has much more to share with this world.

Today, my little lovebug turns one! Where does the time go? It's been a emotional roller coaster with our ups and downs for the past year, however, I would do it again just as long Kaylee remains a happy and healthy little monkey. We are so blessed to have her in our lives. She fills our hearts with happiness and unconditional love. She teaches us everyday the true meaning of patience, compassion, and love. She's our little lovebug and our fighter. We are so proud of our beautiful Kaylee bean. Mommy, daddy & sissy loves you so much!

Accomplishments during the 1st year

Kaylee has come a long way since the beginning of this journey. Our therapists are just amazed with Kaylee's progress. Every time she goes to therapy, they can't believe how fast and strong she's getting. She always seems to surprise them with something new. Like yesterday, she played with a ball and loved it. It was too cute...she would smack the ball and watch it roll away. It was like heaven watching her giggle...she has such a hearty laugh where her whole body shakes with delight. It was so precious to finally watch her play...a dream come true.

At this point, she still needs some assistance with sitting. She can't sit by herself as of yet, but she's on her way. She can extend her torso and sit up straight as long as we are supporting her lower back or her shoulders. She can sit up with support for longer periods of time as long as we are entertaining her. Once we stop entertaining, she would fling herself backwards. Every once in a while, she will sit up without any assistance for 10-15 seconds, then she realizes that she's doing it all by herself and flings herself back. She thinks its funny when we push her forward and she catches herself from falling. She's doing much better of "righting" herself and trying to keep her balance. This will build on her postural muscles and her defense skills. We are praying and hoping that she'll sit by herself at 18 months. I really believe she can accomplish this goal. Her trunk is getting really strong..it's her shoulder girdle that needs to improve in strength. In order for this to happen, Kaylee needs lots of tummy time. She really loves to be on the floor gym activity mat but prefers her back. She use to cry once we place her on her tummy but now she can tolerate it for longer periods. Kaylee is doing awesome with holding herself up with locked arms for at least 2 minutes. Now, you've got to catch her in the right mood, but she enjoys viewing the world from a different perspective. We have to sing the ABC song and she will tolerate anything for longer periods. Its amazing...she would cry throughout the entire therapy session but if you sing the ABC song she calms down and smiles up a storm. So the entire session I have to sing the ABC song to get her to cooperate. I'm sure no one wants to hear my singing, but whatever it takes to see her progress and make her happy. It's these little accomplishments that keeps me going. We will continue to keep you updated on her progress.

Happy 1st birthday, my little lovebug

Happy 1st birthday, my sweet little girl. From the first moment I held you in my arms I adored you so completely. You were so quiet, unsure of the new world that just welcomed you, but when I spoke to you and held your tiny hand, you immediately blinked your little eyes and studied me with complete trust. I felt as if we had known each other for an eternity already and I knew right then that we would guide each other.You are the light of my life. You have shown me so much and taught me with your guidance. Your steady strength is matched only by your loving gentleness and your playful spirit. I love seeing you for the first time each morning and watching your face light up when I say "good morning"....its priceless. I love your toothy trademark smiles and giggles that makes your whole body shake with delight. You are always in such a good mood after waking up so full of life. I love singing songs especially the ABC song and dancing with you and watching you smile with such joy for music. I love your little giggle when we play Peek-a-Boo and other silly games. I love giving you special Mommy snuggles. I just love you. So very, very much, I love you! We are so blessed to have you in our lives.

Happy 1st birthday, my sweet loving Kaylee bean…my little lovebug.

Neurology Update

2009-07-01T09:00:00.004-05:00

On June 29th, we went to see Kaylee's neurologist for her 3 month check up. Overall, everything went well. Our neurologist was very impressed with Kaylee's progress. When we first arrived there, they measured and weighed her. She weighed 16lbs and 6 oz and only 3 percent on the growth chart. As far as her height, she was 27.6 inches and 25 % on the growth chart. She's a small little monkey but at least she's growing and gaining weight. Dr. Deline asked many questions pertaining to cognitive and physical developments. She was very surprised of all of her accomplishments. Dr. Deline did mention that she still was low tone but it's much better than being high tone because we can build her muscles up. She went over her labs and said everything looked good. Because it's been 4 1/2 months since Kaylee's last seizure, Dr. Deline wanted to start the weaning process on the Depakene for the next 2 months. She was mentioning that it's nerve racking during the weaning phase because you don't know it the seizure may come back. But also keeping her on Depakene can play havoc on Kaylee's little body causing so many side effects. Well luckily it's a slow wean and if we see anything that resembles a seizure then we can increase the dose and get another EEG done. I'm praying that Kaylee does well during the wean and remains seizure free. These anticonvulsant meds are some nasty stuff and can prevent her from moving forward in her developmental milestones. On the upside, Kaylee's EEG remains NORMAL....Praise GOD! We've been blessed again..God is so good! Thank you everyone for all the prayers and support. Please continue to keep Kaylee in your prayers to remain seizure free for good.

Kaylee's Diagnosis

2009-05-27T23:08:00.014-05:00

We have been on an eventful journey with our baby Kaylee’s health these past months. On January 12th, all of problems started with Kaylee and her seizures. At first, it started with a blank stare, limp extremities, unresponsiveness and turning blue. We called the pediatrician on call and were told to go the hospital to be admitted. It was late at night and she already had 3 or 4 seizures. She even had one in front of the doctor and he confirmed they were definitely seizures not acid reflux related.

The following day she had 15 more seizures with some color changes. After completing some tests such as labs, metabolic workup, MRI, and EEG, it was confirmed that Kaylee was diagnosed with complex partial seizures. Later that night we started her with Keppra an anticonvulsant medication. We were discharged the next day and were told to keep a seizure log.

A week went by and Kaylee had another seizure episode where she turned blue again so we rushed her to the ER. We were there for 6 hours and they wanted to send us home with an apnea monitor. We refused to go home unless we had some answers, so they admitted us again so we can at least see our neurologist. The next day we had another EEG done and were devastated with the news.

On January 20th, Kaylee was diagnosed with infantile spasms. It was the worst day of our lives so we thought. The only thing we could do was pray for a miracle with our family. That night we were on our way to renew our faith with the lord.

I’m sure you are wondering what is infantile spasms. It sounds innocent enough, at first. Most people don’t think of epilepsy when they first hear of “Infantile Spasms” because the name is very deceiving. Infantile spasms are considered a catastrophic seizure disorder that is often resistant to medicine therapy, and usually results in mental retardation. Infantile spasms are the only seizure disorder where the seizures occur in clusters. They typically affect children from 4-7 months of age, but can occur earlier or later in life as well. These spasms can look either like an exaggerated startle reflex, where the arms flail outward or a “salam bow” where the trunk flexes forward and the arms and legs draw inward. In Kaylee’s case, they looked like startle reflexes accompanied with facial grimaces.

Infantile spasms usually have a characteristic EEG pattern called Hypsarrhythmia, a chaotic high voltage brain wave occurring all over the brain. The seizures typically occur when waking up or falling asleep. No one knows why. They also occur through out the day, but most often are triggered by drowsiness. The greatest goal with infantile spasms is gaining seizure control which comes differently to every child.

The most common first line of treatment is ACTH steroid therapy. Vigabatrin is popular in other countries, but in not FDA approved in the U.S. yet. The ketogenic diet also sometimes works for seizure control (it’s a high protein, low carb diet for kids). Surgery is considered last resort only if they can locate a focal point.Infantile spasms are mysterious. There are no rules or formulas. Little is known about infantile spasms as to what causes it or what cures it. Basically, it is trial and error, and some kids will never achieve real seizure control. If seizure control is achieved, some children can regain what they’ve lost developmentally due to the seizures…some stay frozen.

The outcome depends largely on what caused the spasms. Some children can function with such an abnormality, other cannot. An added variable is how much brain damage the seizures caused before seizure control is gained. Luckily children’s brains are incredibly resilient, so there is hope that some of that damage can be reversed. One other variable is the anti seizure meds that children have to remain on (usually for up 2 yrs) after seizure control is gained. Those drugs affect development greatly…their side effects include lack of coordination, sedation, hyperactivity, and etc…the list goes on and on.

On February 4th, another bombshell dropped on us. We were on our way to Texas Children’s hospital in Houston when we received a phone call from our neurologist. Kaylee was diagnosed with monosomy 1p36 based on abnormal chromosome study. Within that moment, we felt that all of our dreams for her had been shattered. We had already envisioned what Kaylee would be like before and after she was born. We thought she would be perfect just like her big sister Allison. Obviously after talking to the geneticist, this vision of ours had been completely thrown out the window for a normal child. Kaylee may be labeled with this syndrome but in our eyes she's our perfect miracle and we will treasure every bit of her.

The syndrome Kaylee was born with doesn’t have a common name such as Down Syndrome. It’s designated by the fact that a piece of genetic material is missing from her First Chromosome, the P section (as opposed to the Q section) in a portion known as 36. There are three severities, .1 being the most severe, .2 being in the middle and .3 which is the least severe. Our little one has a .3 deletion which means less genetic material is missing than in the .1 and .2 cases.

What does this all mean? Well, every cell in her body is missing some information crucial to our daughter’s development. Even a small portion of missing genetic info can lead to a surprising number of complications. Once we had a diagnosis for our daughter the doctors recommended we have her brain, heart, kidneys, liver, thyroid, hearing and eyesight all checked out. Children born with this genetic condition have trouble gaining weight, muscle strength, hitting developmental milestones, and learning to speak among other things. Some people with 1P36 deletion never learn to speak more than a few words in their entire lifetimes and some use sign language to communicate. A lot of them have trouble walking, but not all.

Kaylee has mild hearing loss in both ears possibly due to fluid in her ears. At this time, we need to monitor her ears and go from there. She answers to her name so I don't think she has a major issue with hearing. As far as her vision, she is farsighted so she needs to wear strong prescription (+4.5 & 5.0) glasses. Finding glass that fit her is the big issue right now....which we are greatful this is the biggest issue for now. We purchased two pairs of glasses because we didn't know what will work for her. So far the Solo Bambini work the best since they hug her face better. Although we like the way her lavender wire frames look, it doesn't seem to fit right. Unfortunately, she has a flat nasal bridge so they slip off her nose. We just need to invent some adorable, durable, and well fitted glasses that can grow with her face. If anyone have any ideas please don't hesistate to give us some input.

So far 1P36 deletions seem pretty rare too. One in 10,000 children is born with it. To contrast, I think the rate of Down syndrome cases is 1 in 300 births. So there aren’t any growth or height curves to measure against. It has only been discovered in the last 5-7 years due to technology advances. Therefore there are hardly any documented or published cases of this deletion. We have been told that there are only 100 documented cases in the world. Only one official study exists and it was done on 64 kids at Baylor. Most doctors have not even heard of this deletion as it is so newly discovered and many physicians have not had genetic training. Thus, not only will we need to educate friends and family, we will probably have to educate Kaylee’s other doctors as well.

Many of the questions we like answered simply can’t be right now. There’s just not enough data yet. That was one of the toughest things for us. So much was just unknown. Our geneticist gave us a poor prognosis. He told us that extensive therapy wouldn’t do any good. According to him, she would just reach milestones sooner, but will eventually even out with others without so much therapy. In our opinion if a doctor doesn’t have data on the capabilities of a child like Kaylee, then he can’t say “She’ll never be able to do this or that.” Needless to say, we got a second opinion in April. We found a geneticist in Houston, Dr. Bacino. He was the one who studied the 64 kids in 2003. We love him and his positive attitude. We are forever greatful to have a wonderful geneticist and neurologist for Kaylee. We need more doctors like them that give every parent some hope and compassion!

Kaylee’s potential is solely her own. So we have decided that we’ll help her to go as far as she possibly can. We will make sure she reaches her max potential. I think we’ll be amazed how much Kaylee will accomplish in her future…she’s a fighter…she’s our miracle baby.

Well as of February 7th, Kaylee was hospitalized so we could start the ACTH therapy. We gave her first injection that night and she reacted very well so far. At first she received the maximum dose (2 injections a day) 50 units daily for the first two weeks. Then she only received one injection (25 units) for the next two weeks. During her weaning phase we decreased her amt every 5 days until she was completly weaned off. Luckily, on day 10 we have been cluster free….Praise God!

As of Feb 22, we weaned her off to one injection a day. Kaylee experienced a moon face appearance…she had some chipmunk cheeks and gained 1 ½ lbs in one week, high blood pressure, irritability, and an eating machine. So far with lots of prayers, she remained spasm free during the weaning phase. Just to be prepared, our neurologist in Houston ordered Vigabatrin another 1st line treatment for infantile spasms. We hope we don’t have to use it but we have in hand just in case.

We traveled to Dallas the first week of March to see another neurologist who specialized in Vigabatrin. It was a long car ride with a cranky baby, but overall she did well. The visit with the neurologist was a waste of our time. He was very negative and had a horrible bedside manner. The one advise that we will take to heart is to prevent any unnecessary treatments. We need to take in consideration the benefits and risks of every situation whether it's a pet scan or another seizure medicine. I just wish that all doctors take a class for good manners like an etiquete class before they graduate. It's a shame that some parents actually listen to their negative crap. For me, it just motivated myself to prove them wrong. So far it working...Kaylee has been seizure free for 100 days as of May 27th....God is so Good!

We are taking each day - day by day. We know in our hearts Kaylee will be a happy and sweet little girl. She is most definitely a fighter. In the months of Feb-April she hasn’t been her usual self but after she was completely weaned off her developmental skills improve so much. She still continues with all of her therapies - PT, OT, Speech, Nutrition, Feeding therapy, developmental and behavioral. We will continue to test her to make sure all of her organs are functioning properly. We will most likely learn sign language as a family to communicate with her, hopefully she’ll be the one kid who can speak…miracles can happen!

It's been a tough road but I try my best to stay positive. Before Kaylee was diagnosed, I wasn't a religious person. Kaylee brought God and faith in my life which I'm forever greatful. That's how I cope everyday. When things get tough and I feel like giving up I just sit down in a quite place and read prayers out loud from my prayer book. It gives me strength, hope, and peace afterwards. I feel my doubts, worries, and stress just melt away. I know I'm not alone because God is always with me and I continue the rest of the day with feelings of hope and peace. I know that God has great plans for us and that everything will work out. I just have to have some patience and lots of trust in God.

But other days (which are winning out in number) I choose gratitude. I guide Kaylee along and remember that she probably shouldn't be alive - but she is. They 'say' she'll never walk alone or speak - but I believe she will. Kaylee's a happy baby..she smiles alot, great eye contact, and her laughs are contagious. And once I'm done thinking of how lucky we are for these accomplishments...I shift to remember how lucky we are for HER. How many other parents got to start their day with such clarity about life? How many other parents got to begin their day with such a keen understanding of what being a mom or dad is? How many other parents got to know - with such depth - the intimacy with God that is bred from simply being thankful that your child is breathing in and out. I start my day thanking God for Kaylee's very breath. Thanking Him for one more day with my daughter. Knowing that no second of my day will be wasted on thingsthat don't matter.

I pray that my older daughter Allison will grow up also learning the gift of gratitude - and the reality that even with a sick sister- life can be filled with joy.

Kaylee will progress and give us new pleasures each and every day of her life. We can only do our best he help her succeed, and that is exactly what we are going to do. She is our sweet angel sent to us directly from God and we will treat her as such for her entire life.

We know that Allison will be the best big sister. We have no doubt that she will succeed with anything she does. S he’s just so sweet and intelligent. Who knows Allison may be the one to figure out the gene mapping sequence and find reasons why deletions occur.

We love our family and friends so much. We know that this is only the beginning of our long journey. We are blessed to have such a wonderful support group with our yahoo 1p36 family. We can honestly say we are blessed to have such a solid foundation. We couldn’t do it without our friends and family. Thanks for all the prayers and support. We can’t even begin to thank you enough.

Peace be with you, please keep Kaylee in you prayers.

God bless you all,

Beau, Sherry, Allison and Kaylee