[tri-med] trisomy 14 Vicki

Hi Vicky,
Here's some info about Alex. I'd love to hear more about Luke!

Alex has a diagnosis of partial trisomy 14 mosaic.  46,xy/47,xy, 14q-, Mosaic
Alex is 19 years old.

We found out about the trisomy just a few weeks after his first birthday. 
The first chromosome analysis performed (in the hospital following birth) 
missed it due to the mosaic status.
After rounds of specialists to try and determine what was 'wrong' with Alex 
we were sent back to genetics by a Ped Endocrinologist who had previously 
been a practicing geneticist.

Early life with Alex was 'typical trisomy'. He had NO suck, was lethargic, 
low tone, lack of Moro Reflexes.....it took 1.5-2 hrs to get 1 ounce into 
him for more than a year. Looking back at the issues he had and the fact 
that we had absolutely NO help or support (therapies, suggestions/help with 
feeding issues, etc) and were totally on our own it's somewhat amazing to me 
that he survived.
He had diagnoses of: Failure to Thrive and Developmentally Delayed.
After the trisomy diagnosis we were told that 'we can't tell you what will 
happen or what he will do'. We were also told that at any point his could 
plateau with his progression/development at a point where he would not be 
able to progress past.
We were also told that Alex was the 'only one like him in the world'.

With each year Alex has grown stronger and done better.

Here's his medical rundown:
Allergies: seasonal and environmental
Allergy Induced Asthma  (his most serious medical issue)
Minimal depth perception
set of fused ribs (5 and 6 on the right)
Benign Branch Pulmonary Stenosis
GHD (growth hormone deficiency) treated with GHT (growth hormone therapy)
short stature
scoliosis
Hypotonia
LD (learning disability)
Eczema
Medications: Proventil Syrup for asthma, OTC antihistamines, Pandel cream 
for the eczema, antibiotics prior to dental cleaning due to the heart murmur

Educational:
difficulty/below grade level reading and comprehension
difficulty with higher level thinking
slow processing time
difficulty with real life problem solving
lack of age appropriate 'general life' knowledge
low level of information retention esp if it doesn't relate to his general 
life knowledge
Most of these things REALLY set him apart from his peers and make life 
more......interesting........to figure out with and for Alex. 

Alex graduated high school in June. He's working in a restaurant right now as a 
dishwasher and awaiting line cook training. 
He's been a Boy Scout, soccer player, earned his Junior Black Belt in Tae 
Bong Soo Do, taken and passed Drivers Education, been manager of high school 
soccer teams, basketball teams and a member of the high school bowling team. 
:0)

That's the 'brief' of it all!
Michelle mom to Alex (19, partial trisomy 14 mosaic) and Molly (15)
MichiganUSA



                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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