posted 03-28-2006 07:12 AM            

My 5 year old son Sam has suspected trisomy 8 mosaicism. I say 'suspected' as his blood sample showed nothing but his tissue sample came back as 'intriguing' according to the genticist. Only 1% of the cells showed the trisomy but according to what I have read, the number of cells with the trisomy is irrelevant to the severity of the 'condition'. It is also a very vague diagnosis as the delay can be mild to severe therefore a prognosis difficult to give.

I have also read about a link to leukeamia but my geneticist seems to doubt that there is an increase with people with trisomy 8 mosaicisim. I am very interested to hear from anyone who might know something about this.

Sam is delayed in all areas of development, specifically his fine motor and his speech but he is a lovely, happy affectionate little boy. He is healthy so far. He wears glasses for his long sightedness and was born with a bilateral strabismus which was improved with surgery at 15 months. He has deep plantar creases between his big toe and second toe.

He will go to a special class at a mainstream school next year. We do speech and occupational therapy weekly. He has two younger siblings, a sister and brother that are developing fine.

Looking forward to hearing anyone who may be able to share their experiences with me, any obstacles and what therapy/therapies/techniques were most helpful in overcoming these.

Tracey Youssef
Sydney Australia

posted 04-25-2006 05:22 PM            

quote:

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Originally posted by kschmidt:
I am following a little boy with trisomy 8 mosaicism. Father asked me about how old is oldest living affected, what is lifespan for most, and is there increased risk for leukemia. I would be very pleased to hear from those taking care of these children what their experience has been and if children die young what has been the cause of death. Thanks,

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posted 06-29-2006 05:43 PM            

Where to start? She was small and pretty (all the women are petite in our family) and always looked younger than her age (so did I and my mom in our youth, but not so much as she did.) I don't think she had any gross organ dysfunctions, and she was a good deal more intelligent and talented than average (although she did have some early delays in speech development.) She went to a prestigious private college for her BA and later earned an MA in education. She put this to good use teaching at a Navaho reservation in New Mexico. She was also a gifted painter who was starting to get represented in some galleries, as well as a very good juggler. She was interested in theatre, and sometimes took part in amateur productions.

Here is the worse side of things. Her illness seemed to begin in early childhood with alarmingly high fevers that came out of "nowhere" whenever we went on a trip or when she got stressed. The fevers ended in childhood, but like some others with her condition, she suffered all her life from bouts of sores that were not only in her mouth, but all the way down her digestive tract and even in her vagina. (Once an ulcer in her intestine burst and if she had not been rushed to the hospital for emergency surgery, she would have died.) She also suffered periodically from rheumatoid arthritis. Her immune system was obviously a mess, but she didn't get sick very often with illnesses like colds and flus.

Her final illness was characterized at its onset by fevers and exhaustion. She thought it was a lingering flu, but upon examination at the local hospital the doctors suspected leukemia. AML was confirmed, and they began chemotherapy at once. Sometime during the time she was being treated they confirmed the trisomy 8. They never got the leukemia under control with chemo so that transfusions or other therapies could have been possible. All the same, the oncologist told us that if she had been successfully treated, the leukemia would have repeated until it eventually took her down.

This final illness was diagnosed in early June of 2004 and she died at the age of 28 about 3 1/2 months later.

posted 07-11-2007 08:27 PM            

I also have a brother with Trisomy 8. He is 29 years old. We live in Edmonton, Alberta, Canada.

There are a few things that have plagued him through the years, such as Osteoporosis, extreme growth (he is 6'8" at about 100lbs) very large hands and feet (size 16-17) mouth sores, and some speach and learning disabilities. There are a few other issues that arise from time to time, but for the most part he his very happy and healthy.

He holds a stable job working at a pet store - and he has a lot of experience working with animals in the past. All animals seem to have a very strong bond with him, and he has a true fascination with everything alive.

He lives at home with my parents, but probably could handle living by himself if he had someone check in on him from time to time. He spends countless hours playing online video games, from which he has been able to drastically improve his social skills.

Most problems seem to arise from other peoples inability to accept him. His obvious physical characteristics makes him noticably different - but that is another barrier that has been overcome with the ability to communicate with others around the world in video game chatrooms.

I love my brother very much, and im happy to see him in the niche that he has carved for himself. I'm also glad to see so many others in this thread trying to understand the condition and find others to share experiences. I (and my Mom) would love to hear from anyone out there directly. Feel free to email me anytime!