Russel Silver Syndrome
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Anonymous
| Anyone here have a child with RSS? Who diagnosed and when? When did you suspect RSS? What made you suspect it? Please no snark. I'm a FTM of an IUGR baby and I'm at my wit's end and feeling helpless. Thank you in advance. |
Anonymous
No, but you're not alone. Each of us has our challenges, and we'll support you even though our specific issues are different. Hugs! |
Anonymous
Thank you, PP! |
Anonymous
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OP,
Go for genetic testing: http://ghr.nlm.nih.gov/condition/russell-silver-syndrome If your child does have this, look into clinical trials at NIH. We have a friend who's child has a rare genetic disorder and participates in one. |
Anonymous
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I don't know anyone with this particular disorder, but recommend reaching out to the Little People of America group. They have supportive services for people with short stature resulting from a variety of conditions and are incredibly supportive for families.
Best of luck to you and your family. |
Anonymous
| My son was born with IUGR and RSS was on the table for a while. We went through all tests with no reasons for his IUGR found, and ultimately I think it was something to do with my body during pregnancy. But it took years for all tests, therapies, etc... Doctors are always looking for a diagnosis but the truth is that there is so much they don't know about iUGR and it is a result of MANY different causes that can be genetic or environmental, similar to low muscle tone (which my son also has mildly). We didn't achieve catch up growth until my son was 18 months old when we started employing distraction techniques (toddler shows on tv, lap top) to get him to eat. Once we did that, he caught up significantly from <1% weight to 30% at 24 months and where he still sits now at 4 yrs old. And his height went from 1st at birth (adjusted) to 65th (only after we got him to eat more with tv--a lifesaver for us). We still do PT and work on social anxiety and some other behaviors, but he is thriving. We never got a true cause. If it is RSS, unless genetics are positive it can take years to figure out. My son had other features they tried to attribute to RSS like the turned pinky, small teeth, etc... Only they ignored that my husband has those same features... Try to not let doctors freak you out too much. |
Anonymous
Thank you. This is very helpful. DD is 4 months old. We just switched from expressed breast milk to Alimentum formula to see if that will help weight gain. We also switched from compounded Prevacid to solutab Prevacid. Since the switch two days ago, she's doing better and taking more ounces per feed. We went from 18 ounces per day to now 23 ounces per day. I'm hoping this change for the better is here to stay. My milk seems to have plenty of fat, and I eliminated everything from my diet, so I'm not sure why it wasn't working for her, but I'm really hoping that the switch to formula and solutabs will help. We've tried screen time while eating, but it hasn't helped. We've also tried walking around and dancing and trying different bottles and nipples and dream feeds. I'm really hoping the new medication and the formula will help. DD has a bit of a weak, somewhat pointed chin, but so do I. She has an overbite, but so did I before braces. Her ears sit a bit low and protrude somewhat, but so did DH's when he was a baby. She has a high palate, which neither of us have, and she was born IUGR, while we were both born on the larger side. She does seem eager to eat initially, she just doesn't have the best suck so she gulps a ton of air and then the feed is ruined. Once we burp her to get the air out, her reflux really sets in and she's in pain and doesn't want the bottle. She has good skin color and very good head and neck control, but absolutely hates tummy time and, while she can raise her head and move it around, she can't prop herself up on her fists or her elbows (i.e., we have to do it for her). She's not rolling over yet, but I'm told that's normal. She is extremely alert and laughs and smiles appropriately. We're seeing a geneticist at Children's at the end of February, but I'm hoping she can get back on the chart a bit before then and this will all be for nothing. She was born 5 lbs 5 oz, 19 inches at 38 weeks. She gained 2 lbs on breast milk alone in the first month, then her reflux set in and it's been very slow weight gain ever since. She just hit 16 weeks and she's now 10 lbs 8 oz, 23 inches. |
Anonymous
Also, PP, who was your geneticist? Did you like him / her? |
Anonymous
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New poster her. OP, my DD1 sounds a lot like yours does. She didn't eat a lot and had reflux/sucking issues. We started the analysis with an endocrinologist when she was six months old. We also went to GI doctors, and when she was around 18 months we went to Dr. Rosenbaum at Children's and we really liked him. He ruled out RSS and basically thought our child was just not big - I'm only 5'0" so it's not shocking that she's tiny. I recommend seeing him because he had a great bedside manner and was very thorough.
I also just wanted to let you know that you aren't alone and I'm thinking of you. That first year was really tough. |
Anonymous
| To OP - I've never heard of RS syndrome (had to look it up ) but that's one of the reasons I come on DCUM. I come to try and help other SN parents but also I learn something new every day. Just wanted to let you know that other SN parents relate to your situation and are praying for you. |
Anonymous
Thanks, PP. I'm 5'8 and DH is 6'2. DH was a very skinny child, but rather average sized as a baby. I was a large baby and medium sized child. Dr. Rosenbaum is the geneticist we're seeing. I'm glad you had a good experience with him. If you can recall, what were the tests he did to rule out RSS? From my limited research, it looks like it's really just a physical exam of the baby and perhaps a blood test for the mother. Also, who did you use as your endocrinologist. I tried to get an appointment at Johns Hopkins in their endocrine department but they told me I would need some type of diagnosis before they'd see me. Thank you again for the kind words. |
Anonymous
Thank you so much. Prayers for you and your little one(s) as well. |
Anonymous
| Pp with IUGR kiddo here. For genetics we had to work with Walter Reed as Tricare wouldn't approve it externally (all else was done with Children's except therapy and developmental ped was elsewhere). They did a microarray that would look at most things, but nothing came up. Reflux was also a HUGE deal for ds and still is. The Prevacid solutabs helped a ton and even at 4 he still needs them. He never could latch well and so I pumped BM the entire time until a little over a year. At one point we tried formula but it just seemed to make his reflux worse. When he got off BM we went straight to pediasure at a GI's rec and he still has two per day. He finally started being easier with food at around 3.5 years old. It's like a switch went off. |
Anonymous
| Another round of applause for Dr Rosenbaum at Childrens. He is just wonderful with kids and parents (and has an excellent reputation among pediatricians). Although he was unable to name a specific syndrome for our son (hypotonia, missing teeth, bladder deformity, strabismus, scoliosis, etc etc) he did advise us on things to watch for and ruled out some of the more scarier diagnoses (involving anurisms.) |
Anonymous
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We have also seen Dr. Rosenbaum at Childrens. He is excellent. I do want to say that if your child actually has a diagnosis, you could consider that a blessing. Those of us who have children with a genetic disorder without a diagnosis have no information about the future for our child. We joined http://www.rarechromo.org/html/home.asp to find out what other people who have children with the type of genetic disorder our child has have been thru. Although our child is unique, in that no one has registered having the same genetic disorder, we can get some possible issues from others who have children with a close by chromosome abnormality.
So if anyone has a child with a rare chromosome disorder which has no name, rarechromo.org is the place to start to help yourself and child. This organization publishes some excellent pamphlets which we used as a blueprint on having all possible issues checked by myriads of doctors. |