Saturday, 13 September 2008

Chromosome 14q Deletion Syndrome

I've been getting a few questions about Ashley diagnosis and I thought I should write something about it and how it effects her. When Ashley was just 6 weeks old her blood work from genetics came back and told us that she was missing genetic material on the long arm of her 14th chromosome. We were told she has chromosome 14q interstitial deletion syndrome or 46, XX, del14(13q21q) to be more exact. Which means that has a small deletion of genes on her 14th chromosome. It also means she is extra special and a very unique lucky little girl.

At birth Ashley was born full term but only weighing 4lbs 9z she was adorable with red hair and blue eyes but started getting very sick shortly after birth. Her lungs had not developed and when born her heart was still bi-passing her lungs like she still was in the womb this was very scary stuff she admitted to the Neonatal Intensive Care Unit (NICU) at the Sick Children's Hospital in Toronto. The staff there were totally amazing they saved her little life many times she was on a oscillating ventilator which help to expand her lungs something she could not do on her own as soon as she arrived at the NICU they had to comatose her as her body needed to focus on breathing and she was to ill even use her digestive system or even move around that would use up to much energy. After many days of care her lungs were responding, she suffered a few complications from being there a small thrombosis or blood clot in her heart had formed and she also suffered a small stroke. The news of all these was almost too much for mommy and daddy to bear but we managed through some how Ashley was our strength she was so sweet and loving and we knew she had lots of life ahead of her two brothers to play with and a big family praying for her. Her lungs responded very well to the treatment and around 9 days she was off the ventilator and was allowed to wake up and move and poo. I remember how exciting it was that she could finally poo. I even remember her lifting her little hand above her head for the first time it was so exciting. Around six weeks we got the call that they had confirmed she had a rare interstitial deletion on chromosome 14q. That was devastating news which took me a long time to adsorb and accept. Ashley finally came home from hospital at 7 1/2 weeks on oxygen and stayed on oxygen for the next 14 months. In her first two years she was re-admitted many times back to Sickkids some stays were really long all of July and most of August in her first year you wonder if your ever coming home. When she was 3 months she had grown and her little lungs and heart had trouble keeping up with the oxygen her body required she was too sick to be at home and the docs wanted to run many tests including a cardiac catherdization and biopsy on her lungs this was pretty serious they were worried if she was strong enough to survive the procedure i knew she would and she did they were very pleased with what they found just very premature lungs they believe as though her lungs at birth were like a 24 week baby so just very premature and her heart was good she need more time for her lungs to develop.

Lucky for Ashley and many babies is lungs continue to grow and develop after birth until your 8 years old they believe. Ashley would need extra oxygen for awhile maybe a few years but her heart and lungs would get better with time.

Ashley came home again at 4 1/2 months but spent much of her first year in out of hospital fighting off colds, she had rsv, pneumonia, and even a urinary tract infection that all landed her in hospital for a week or two at a time. Slowly with time despite a rough first year she was getting stronger and her lungs were improving even her heart slowed down to a more acceptable pace. By the time Ashley was 14 months old she came off the oxygen day and night, except a few stays in the hospital for colds that following winter she has been doing really well breathing all on her own. No inhalers or oxygen needed.

Motor Skills:
Her chromosome deletion also means her development is slowed she needs lots of help from physio, occupational therapy to learn to move and play. She works really hard at this and has made wonderful progress with sitting, and standing. Now at 3 she is still unable to stand totally independently but is progressing towards that thanks to her CME therapy (physio). She also has learned to use her hands to pick up almost anything which is really amazing to mommy and daddy. She will continue to need PT for quite some time now to learn to walk, jump and run. She will need OT to learn to release objects better, write, draw and use utensil to eat.

Feeding:
Feeding has been a challenge for Ashley she did well in her first year tripled her weight but from one year to two years she gained no weight at all. Her doctors were very concerned and it was decided she needed a g-tube. A g-tube is a surgically placed tube which allows us to give her extra calories to boost her weight. It was a painful decision but necessary to allow her to have this placed. The surgery and recovery were painful for Ashley which was unusual and not expected but she managed to recover and it has been in for 17 months in that time we did a lot of learning she did some unlearning. Ashley gave up drinking once she had the tube that was disappointing but not unusual i learned as she just was not hungry we were pumping her with formula around the clock therefor quickly refused to eat or drink and within a month or so she was pretty much primarily tube feed. It was disappointing but she was gaining weight something that had not happened for over year prior to the tube.

She was just 16 pounds when the tube was inserted at 2 years old and now at 3 1/4 years old she is 21 pounds a nice increase and she back on the chart! Her doctors are pleased with this weight gain. She also now interested in eating and drinking again which is music to our ears we love to see her drinking from her cup eating blueberries and last week some pizza crust and today grill cheese. She started to bite and chew a little it is so wonderful. We are very thrilled with this progress.
Speech:
Speech is another big challenge for Ashley we know she has lots to say but it's so hard for her to get words out. She has been successful in saying many things a few times like hi, ouch, Mommy, no no no, "wuv you", yeah, yes and even an "I'm okay" she is always thrilled when these words come out just as we are. She learning to make choice through a picture communication system (PCS). We also teaching her sign language so if the words don't come she can still communicate with us some how.
Basically Ashely is a lot like other little three year olds she loves her school and enjoys seeing kids her age and getting their attention really pleases her. She loves painting, playing and circle time. She can even eat snacks now with her friends she is learning to use the potty and and I think she almost ready for a big girl bed. I hope to continue to help her in every way possible so that she can have a happy, fun childhood with a bright future ahead of her. She teaches me everyday to appreciate all the small things in life, and not to take anything for granted. I truly feel like the luckiest person in the world that I am her Mother.

23 comments:

Mighty Mom said...

Ashley is pretty lucky to have you, too, Sherry. You are an amazing inspiration to any mom.
Love,
Melissa

gail said...

great post about ashley. sometimes its nice to read all in one spot what a child and parent are dealing with. i know you're goin gto see great progress. it's hard to make those agonizing decisions but good things come out of it.

blessings on you!

Lori said...

I'm so glad you wrote this post. I have been wondering about little Ashley since I first found your blog.
We have been down many of the same paths, and like Ashley, Myah has a rare chromosome deletion (7q). When I read how much you have been through with Ashley I have complete empathy and sympathy.
I'm so thankful to see how well she is doing!

I know Ashley will continue to grow and develop and I'm so thankful to have found your blog so I can watch her progress!

Thanks for your "online friendship:)" I feel lucky to have connected with a mother who has been through such similar things! Ashley really is a little angel!

*If I were you, I'd put a little side link on your blog to connect readers to this post, it's so informative:)

Jenny said...

Thanks for helping us to get to know Ashley a little better! She shares many of the same developmental delays as my Jackson, and in fact, they are very close in age. (Jackson will be 3 1/2 this month.) I'm so glad that she has made such progress, and I know you'll continue to be amazed at the progress she'll make!

FranticMommy said...

what a touching story. you are an inspiration and Ashley is as beautiful as an angel.

Mum-me said...

When I read stories like this I am always amazed at how medical science can help, well actually save, little babies like your precious Ashley.

Praying she will continue to make progress and that you and your husband will be daily renewed to keep helping her.

Colleen said...

Hi, thanks for commenting on our blog and for sharing your amazing story. We know very well what it's like to live in the unique world of a chromosome deletion. She sounds like she's come so far already.

Hen Jen said...

Ashely sounds amazing, and you do, too. Thanks for sharing about her.

TMI Tara said...

I'm so glad you left a comment on my blog so I could come here to "meet" you and your beautiful daughter! What a special girl :)

Let me know if you'd like to share her site on my special needs blog kidzorg.blogspot.com

Missy said...

Thanks for commenting on my blog, it helped me to find yours. Your kids are beautiful and I can't wait to follow their progress on your blog.

Missy @ http://addupthelittlethings.blogspot.com/

caryanne said...

Thanks for such an informative post. It makes reading a new blog so much easier when you make it so easy to find out some of the backstory.

Ashley seems like an amazing little girl and I look forward to getting to know her (and you) better.

Cary

Confessions of a Closet Hoarder but you can call me Judy said...

What a beautiful story about a beautiful little darling! She's precious.

I know how hard/beautiful/totally worth it all it can be. We have 2 daughters with a partial monosomy of one chromosome and a partial trisomy of another. And they're such huge blessings. I can't imagine our lives without them.

Thanks for stopping by my blog the other day and taking the time to comment. I'm following you now. :)

Anonymous said...

Nice piece of writing I must say. Well crafted and very beneficial, thanks!

Anonymous said...

A very excellent as well as educational write-up at hand. I seen it and read it two times

Anonymous said...

Hi there what a lovely piece of writing and very informative to, thakyou. And may i say your lovely daughter is a real fighter. I have a 11 and a half year old daughter who also has Chromosome 14q interstitial deletion, and she was not diagnosed untill she was 8 and a half yrs old. She is a very special and unique young lady, but her problems are slightly differant to your daughters. We also have 4 other children who are healthy and love there sister as much as we do. thankyou x

ChildTalk said...

What a journey you have had...

She is a beautiful little girl, with a beautiful family.

Glad she's starting to use some pictures to communicate. :)

Vcky13 said...

Thank you for sharing you guys' story. We wondered for years what was wrong with Tessa, and I cried when the chromosome testing for 22q deletion came back negative. Imagine being sad to not get a diagnosis! Still don't know why she is tiny for her age, but we do have a diagnosis of Autism. These little angels teach us so much.

Jill said...

thoroughly enjoyed reading this. Thanks for sharing

Daria said...

Hi! Thanks for sharing your blog with me on fb! Looks lie Ashley is really making some process. I look forward to following your future posts.

Spanish Princess said...

I found this blog by something you might be familiar with, researching the effects of Chromosome 14 issues. My 6-month-old nephew has recently been diagnosed with (forgive me if its not quite right) ... Chomosome 14q deletion syndrome. He is missing chunks of Chrom. 14 ... among other issues. I have been a blogger for while as a military spous but we had a Christmas Day scare and my sister and he are currently hunkering down at Texas Children's Hospital until we can figure some things out. But "For Love of Alex", we'd do anything! Thanks for sharing ...

Jennifer Graff said...

My son Joseph is in surgery to get his palat fixed as i am writing. He had a lip repair last year in may 2011. He has similar issues that ashley has. Joseph is a year and a half and only weighs 16 lbs. He was born at 33 weeks at 4 lbs 9 oz. He was in the NICU for 22 days. As of today i have seen such an improvement for my little joey. I am considering the G-tube as well, being a mother of only 20years old and tackling my sons situation by myself it can eb stressful making the decisions. The fatehr is in the picture but there are some things going on right now. I am scared to haev the g-tube inserted into my sons stomach.. but i wish him the best of luck. And your ashley too!.

Sherry C said...

Hi Jennifer sounds like your a great mom to Joseph. I'm just reading your comment today a week later sorry. I hope his palat fixed is healing well. The g-tube is scary at first but very helpful. I'm sure your little boy is going to surprise you with all that he can do.

Milton Lee said...

I have a son with a partial deletion of chromosome 14q. I think its sections of 21-28 that are missing. We have had a lot of issues with so many different organs, but they all seem to be related to this one chromosome. If there is any way we can discuss our children in detail, it may help me with finding out more about this special boy I've been blessed with. Please email me at covina.lee@gmail.com Im at a brick wall trying to find information so that I can make good decisions in reguards to his care. Please help me if you can. Thank you, from one loving mom to another wonder mom.