Guest guest Posted March 8, 2005 Report Share Posted March 8, 2005 Hi Alison My daughter Bobbi also has the UPD 7, our geneticist told us that generally this would mean they are on the milder side of RSS, although I'm not convinced as Bobbi feeding is terrible and seems to have quite a few of the symptoms. I notice Charlie has a G-tube what was the deciding factor for this? Brigitte - mum to Bobbi 12months, 11lb 13oz, 63cm UPD 7 Hello all well we finally got the DNA tests back for Charlie and it turns out that he does have UPD 7. Is there much research about what this means? I know that only 10% of cases show up on DNA tests and I would be interested to know whether this changes the goalposts in any way and who else out there is a UPD 7 RSS? Still contemplating the fundoplication...........still waiting on growth hormone approval......... Alison (mum to 3yrs, Charlie 20mths RSS Gtube Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 9, 2005 Report Share Posted March 9, 2005 ALison, I saw that no one responded so I thought I would dash off a note. Of the 102 RSS children in our database (confirmed RSS by Dr. H) we actually have an incidence rate of 16% for matUPD7 (meaning they incorrectly inherited both chromosome 7s from mom instead of 1 from mom and 1 from dad). This is much higher than the 10% published in other studies. It may be selection bias, who knows. Most matUPD7 children who also have RSS (some children with matUPD7 have other growth disorders and NOT RSS -- it is NOT a distinguishing characteristic of RSS alone) -- typically do not have the triangular shaped face that other RSS children have. Instead, the studies have found that RSS matUPD7 children are more mild in looks, with a squarish face. However, these studies have also found that many of the matUPD7 children, although mild in phenotype/look, often have more severe developmental delays. But not always. Has Charlie been evaluated by your state's early intervention services? Other than that, matUPD7 kids are the same as others, and treatment is identical. > > Hello all > well we finally got the DNA tests back for Charlie and it turns out > that he does have UPD 7. Is there much research about what this > means? I know that only 10% of cases show up on DNA tests and I > would be interested to know whether this changes the goalposts in > any way and who else out there is a UPD 7 RSS? > Still contemplating the fundoplication...........still waiting on > growth hormone approval......... > Alison (mum to 3yrs, Charlie 20mths RSS Gtube Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 9, 2005 Report Share Posted March 9, 2005 Hi all, I have been lurking on this list for about 7 years. My son is now 9 and have been really interested in reading about what some of your older children have been experiencing and developing. I never had him tested for matUPD7. We just removed his g-tube in January. He had it for 7 years and is eating me out of house and home. Amazing! He is having surgery Monday because it won't close. All the times we worried about it closing and getting another one in there quick and now he needs real surgery. They have to close his stomach and then the skin. His back is very curved and believe he has scoliosis. He has lots of cognitive issues. They even diagnosed mild retardation. I'm not convinced of that one, but he definitely is quite learning disabled. He can talk up a blue streak and has a phenomenal memory, but the learing is slow. He just learned how to tie his shoes at 9. He has tremors. After seeing many neurologists, they feel it was damage from the lack of nutrition early on. He had his g-tube placed at 21 months. Wish we had done it sooner it was such a lifesaver for him and for me and my husband. He has been on growth hormone for about 18 months and is doing well. He is 4'1 " and weighs 59 pounds. He definitely has OCD and I was wondering if other kids had that and if they were being medicated? I think that is the hardest thing for him. He worries and obsesses a lot. We have had him in early intervention and school since he was 2. Just this year we put him in a special school and he has make wonderful progress. I was VERY worried about labelling him, etc., but they have so many wonderful programs and teachers that they just don't have in the " regular " school. The classes are small and they get all kinds of really great technology. They take them on a million field trips and have afterschool sports and boy scouts and he fits in. He is 9 years old but certainly not 9 cognitively. I just wanted to say hi and I never thought we would get to this place. He is doing great. It was really touch and go the first five or six years. He is such a blessing and such a joy and we are so thrilled he is thriving. I would love to chat with anyone if they wanted to. You can email me at smithclan@.... Sincerely, Judy mom to Matt 9 (RSS, ADHD, OCD, PDD, growth hormone, no more g-tube yeah!!!, etc.) Zack 15 and Cody 13 Re: UPD 7 > > > ALison, I saw that no one responded so I thought I would dash off a > note. Of the 102 RSS children in our database (confirmed RSS by Dr. > H) we actually have an incidence rate of 16% for matUPD7 (meaning > they incorrectly inherited both chromosome 7s from mom instead of 1 > from mom and 1 from dad). This is much higher than the 10% > published in other studies. It may be selection bias, who knows. > > Most matUPD7 children who also have RSS (some children with matUPD7 > have other growth disorders and NOT RSS -- it is NOT a > distinguishing characteristic of RSS alone) -- typically do not have > the triangular shaped face that other RSS children have. Instead, > the studies have found that RSS matUPD7 children are more mild in > looks, with a squarish face. > > However, these studies have also found that many of the matUPD7 > children, although mild in phenotype/look, often have more severe > developmental delays. But not always. Has Charlie been evaluated by > your state's early intervention services? > > Other than that, matUPD7 kids are the same as others, and treatment > is identical. > > > > >> >> Hello all >> well we finally got the DNA tests back for Charlie and it turns > out >> that he does have UPD 7. Is there much research about what this >> means? I know that only 10% of cases show up on DNA tests and I >> would be interested to know whether this changes the goalposts in >> any way and who else out there is a UPD 7 RSS? >> Still contemplating the fundoplication...........still waiting on >> growth hormone approval......... >> Alison (mum to 3yrs, Charlie 20mths RSS Gtube > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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