Guest guest Posted December 8, 2004 Report Share Posted December 8, 2004 Hi, My name is and I have a 5 year old named . He is 32lbs and about 40 inches tall. We have been dealing with growth issues since he was about 6 months old. He had a lot of constipation issues when he was younger and I thought maybe it was a GI problem. It turns out that its not. I just recently found out about -Silver Syndrome a few months ago and he does have some of the characteristics, I think, Low weight for height, cafe au lait patch, low muscle tone and gross motor delays when he was younger, and inturned pinky fingers. I have an appointment for the Geneticist in Jan. I was just wondering if there were any specific tests I should look for her to do. It seems really hard to get this diagnosed. My other two kids are in the 95th and 75th percentile. My three year old is bigger than right now and actually weighs 5 lbs more. He is also more picky than and probably eats less than him, but he still grows. Its very frustrating. I also was wondering if its possible to have rss if you are not iugr. He was small (5lbs 15 oz)but of normal size when he was born and I hear that one of the main characteristics are iugr. He also has had many,many tests done which all come back normal(which is a good thing) but its very hard not knowing why he doesn't grow. Any info on this would be greatly appreciated. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 8, 2004 Report Share Posted December 8, 2004 Hi , Welcome to our group. I hope we can answer your question. Also, welcome to RSS. As you have been finding out, there is no test to prove or disprove RSS for 90% of the people who have it. About 10% of the people with RSS have it because they have 2 #7 chromosomes from you. This is referred to in the literature as UPD #7 ( UniParental Dysmony #7). Otherwise, like I mentioned, there is no test. So most people diagnosed with RSS are labled that because nothing else fits and all other causes have been eliminated in one way or another. It is sort of a diagnosis of a last best guess. Given 's birth weight of 5 lbs 15 oz, he was probaly IUGR. A mojority of RSS kids are born right around 5 lbs, many less than that. It is possible to have RSS and not have been IUGR but it is unlikely. Yes, getting diagnosed ith RSS or SGA is a process. You cannot just go to the doctor, get a blood test and have the results in a day or 2. Regardless of the label, the treatment is the same. Try as best you can to increase his calories, and at some point you may want to consider growth hormone to improve appetite, increase muscle tone and endurance, increase bone density and yes increase height. Where do you live, I ask because we have many members and you maybe near some one who can recommend a doctor who has some experience with RSS. By the way, my son is 7 1/2, he weighs 40 lbs and is 45 inches tall. He has been on growth hormone for 2 1/2 years. Also, he takes periactin to help boost his appetite. We live in southern New Hampshire, about 45 miles north west of Boston, Mass. I hope this helps. Ken M > > Hi, My name is and I have a 5 year old named . He is > 32lbs and about 40 inches tall. We have been dealing with growth > issues since he was about 6 months old. He had a lot of > constipation issues when he was younger and I thought maybe it was a > GI problem. It turns out that its not. I just recently found out > about -Silver Syndrome a few months ago and he does have some > of the characteristics, I think, Low weight for height, cafe au lait > patch, low muscle tone and gross motor delays when he was younger, > and inturned pinky fingers. I have an appointment for the > Geneticist in Jan. I was just wondering if there were any specific > tests I should look for her to do. It seems really hard to get this > diagnosed. > My other two kids are in the 95th and 75th percentile. My three > year old is bigger than right now and actually weighs 5 lbs > more. He is also more picky than and probably eats less than > him, but he still grows. Its very frustrating. I also was wondering > if its possible to have rss if you are not iugr. He was small (5lbs > 15 oz)but of normal size when he was born and I hear that one of the > main characteristics are iugr. He also has had many,many tests done > which all come back normal(which is a good thing) but its very hard > not knowing why he doesn't grow. Any info on this would be greatly > appreciated. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 8, 2004 Report Share Posted December 8, 2004 Hi , I'm . my daughter is almost 11 months old and has RSS. Hers seems to be on the more mild side. She was born 5 lbs 6.8 oz and 18 1/2/ inches...she is now 13 lbs 14 oz and in the 25 inch range. She had so many tests done I lost track and all came back fine for the most part except her protein level, that was low due to not eating enough. She has never grown well and grows very slowly. We are lucky, we live near cincinnati ohio and went to the children's hospital there. They have every specialist imaginable and her geneticist and his 'team' immediatly recognized RSS. Do you have any Children's specialty doctors where you live? It all depends on how knowledgeable and open to learn your doctors are. Good luck to you, I know it must be hard. Just one quick question though. You said you've been dealing with growth issues since 6 months. How was he growing up to that point and what happend? Autumn's growth slowed down even more after 6 mos too so I'm really curious to know. mom to Autumn RSS > > Hi, My name is and I have a 5 year old named . He is > 32lbs and about 40 inches tall. We have been dealing with growth > issues since he was about 6 months old. He had a lot of > constipation issues when he was younger and I thought maybe it was a > GI problem. It turns out that its not. I just recently found out > about -Silver Syndrome a few months ago and he does have some > of the characteristics, I think, Low weight for height, cafe au lait > patch, low muscle tone and gross motor delays when he was younger, > and inturned pinky fingers. I have an appointment for the > Geneticist in Jan. I was just wondering if there were any specific > tests I should look for her to do. It seems really hard to get this > diagnosed. > My other two kids are in the 95th and 75th percentile. My three > year old is bigger than right now and actually weighs 5 lbs > more. He is also more picky than and probably eats less than > him, but he still grows. Its very frustrating. I also was wondering > if its possible to have rss if you are not iugr. He was small (5lbs > 15 oz)but of normal size when he was born and I hear that one of the > main characteristics are iugr. He also has had many,many tests done > which all come back normal(which is a good thing) but its very hard > not knowing why he doesn't grow. Any info on this would be greatly > appreciated. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 9, 2004 Report Share Posted December 9, 2004 , My name is and I have an almost 9 year old daughter with RSS. I don't want to overwhelm you with information, so I figure I will do it bullet-point, with just some basics. 1) About 5% of the kids with RSS that we track through the MAGIC Foundation's RSS/SGA division are born NOT SGA, but still IUGR. What this means is that they may be born at 6 1/2 pounds and 19 inches long, but have siblings that were born at 9lbs and 22 inches long (or somewhat). So it becomes apparent that the child was still born far smaller than where he should have been. I don't know you or your husband's height, but considering your other children are at the top of the chart.... 2) The best place to go to familiarize yourself is to call MAGIC tollfree at 800-3MAGIC3. Unfortunately, MAGIC is the only support group for RSS/SGA kids. We run it with volunteers, almost all of whom are members of this listserve. Katy and I are the current volunteer heads, but many others are involved to some degree or another. Ask MAGIC to mail you the basic RSS information, as well as the library listing. It has about 110 different articles that we have found on RSS/SGA and logged into our library. Membership is only $30 a year, and then we can mail you out any article free, etc. 3) We have a medical convention every July in Chicago. Dr. Stanhope is probably one of 3-4 most published specialists on RSS, and he spoke last summer on the diagnosis of RSS. We videotaped him and you can get that videotape (DVD or VHS) from MAGIC for $10. You can actually order any of the 4 tapes for $10 each or $30 for all 4. You will read a lot about Dr. Madeleine Harbison - she is a peds endo in NYC that has over the years, developed a specialization in RSS/SGA. She now has about 130 patients with RSS alone, and many people fly from around the world to have their child treated by her. She is almost like a witch doctor, because she has learned all the little nuances of these kids. She gives FREE consultations each year the convention, too, so if you can come next summer, yahoo! Anyway, that is a start. There is a lot of information available through MAGIC, and we try to post synposes on the listserve (can't actually post the exact documents here). Salem (, age 8 3/4, on GHT, Periactin, Zantac, Prevacid and Miralax: now 53 " tall and 57lbs, 65th percentile in height) > > Hi, My name is and I have a 5 year old named . He is > 32lbs and about 40 inches tall. We have been dealing with growth > issues since he was about 6 months old. He had a lot of > constipation issues when he was younger and I thought maybe it was a > GI problem. It turns out that its not. I just recently found out > about -Silver Syndrome a few months ago and he does have some > of the characteristics, I think, Low weight for height, cafe au lait > patch, low muscle tone and gross motor delays when he was younger, > and inturned pinky fingers. I have an appointment for the > Geneticist in Jan. I was just wondering if there were any specific > tests I should look for her to do. It seems really hard to get this > diagnosed. > My other two kids are in the 95th and 75th percentile. My three > year old is bigger than right now and actually weighs 5 lbs > more. He is also more picky than and probably eats less than > him, but he still grows. Its very frustrating. I also was wondering > if its possible to have rss if you are not iugr. He was small (5lbs > 15 oz)but of normal size when he was born and I hear that one of the > main characteristics are iugr. He also has had many,many tests done > which all come back normal(which is a good thing) but its very hard > not knowing why he doesn't grow. Any info on this would be greatly > appreciated. > Quote Link to comment Share on other sites More sharing options...
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