[tri-med] Re: Partial Trisomy 1, Partial Monosomy 6

----- Original Message ----- 
From: "Tiffany Sprishewsky" <tiffanysprishewsky@xxxxxxxxx>
this will be my first post on the site too.  I have two boys Paul 13 and 
Danny 10. They are both severely mentally disabled. They have a partial 
monosomy of 6q and a partial trisomy of 8q.

Hi and welcome to you too Tiffany!!!!
What I said to greet Sue applies to you as well.

Since we have newbies I'll do an "Alex Infomercial".  :0)

He has a diagnosis of partial trisomy 14 mosaic.  46,xy/47,xy, 14q-, Mosaic
Alex is 21 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'.
This was before the Internet existed!

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

Currently:
Alex graduated  June 2006
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)

He currently works for the school district in the before/after school 
childcare program. Alex just applied for a noon aid job at one of the 
elementary schools.

Alex also just had his first date a few months ago and now has a girlfriend.

I look foreword to hearing more about Paul and Danny.

Michelle mom to Alex (21, partial trisomy 14 mosaic) and Molly (18)
MichiganUSA

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

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