Russel Silver Syndrome

[Anonymous]

Anonymous wrote:

Anonymous wrote: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.

Thank you so much. Prayers for you and your little one(s) as well.

+1 Please post back with update.

[Anonymous]

Anonymous wrote:

Anonymous wrote: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.

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.

Quoted PP here. Dr. Rosenbaum performed a physical exam and there is a blood test for DD that was going to be around $2k out of pocket that we did not do because Dr. Rosenbaum was very confidant that DD did not have RSS. As a total aside, the exam was interesting because he also looked at my husband and me and pointed out some of my features that my DD had. This was cool because DD looks SO incredibly like my husband that it was interesting to see what features of mine she has that weren't obvious to me. I think Children's said that they could work with my insurance to cover the test, but Dr. Rosenbaum did not think it was necessary.

As far as endocrinologists, we saw Dr. Sharafat at Georgetown. I loved her. I believe by the time we were referred to her, DD had been diagnosed as failure to thrive and that might have been the hook to see her? She took some blood samples to check for growth hormone levels. DD's levels were very low, but Dr. Sharafat explained that six months is very young for the test and kids who don't eat a lot can have lower numbers. She monitored DD until DD was two by taking blood and DD's hormones got higher and stabilized. We are supposed to go back to her if DD falls off her own curve (she's maybe 3rd percentile for height and not on the charts for weight). She was very nice and informative and was willing to listen to my kazillion questions and worries.

Good luck! I think you will like Dr. Rosenbaum and hopefully he can help figure out what's going on.

[Anonymous]

OP: re: 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.

Can you feed her more often, based on how many ounces she took before she refuses? I direct a center and had a child with VERY BAD REFLUX and (smart baby) she knew it was the bottles that made her hurt so she would just refuse. so there was an elaborate method to feed her and how many hours between feeds was based on # ounces she drank at the feed. So, if she drinks 1 ounce before refusing more, she would get next feed 1 hour later. If she had 2 ounces, 2 hours before next feed, 3 ounces? 3 hours before next feed (and no more than 3 hours between feeds, she never drank much at each feeding).

Sitting her up more to take bottles kind of worked, rocking in a quiet area with no distractions kind of worked, dream feeds kind of worked, everything kind of worked. also having her sit up for 30 minutes after every single feeding no matter what made a difference - she couldn't handle a bumbo chair because that pommel put too much pressure on her tummy so she had a recliner (bouncy) seat that she sat in after each feeding and the teachers played with her, she played with toys, etc.

(We had one teacher who could get her to eat, the other 2 couldn't really, so that teacher just did whatever was necessary for that baby for 10 months and the other 2 teachers understood - it was a great team, but I digress)

I will say that this baby loved baby food - she didn't have the negative associations with food as she did with the bottle (seeing the bottle would often make her arch her body and cry, poor thing) and she could keep baby cereal down like a pro so that really helped as she at more foods (mixed with formula to get that into her). Perhaps this will help your daughter, too.

For strength, you don't have to force tummy time - it hurts to put pressure on your tummy if your reflux is bad - but if you hold her on your shoulder she can arch her back and look around.... you can work on her core strength (which is the importance of tummy time) when she's a bit older and the reflux subsides - even see a physical therapist or occupational therapist if you must to get good ideas for working on core strength once she's over this hump and is 9 months old or something (she will get over the reflux hump, I'm sure, but I'm sure it feels like this is a very LOOOOONG hump - the multiple babies we've had in care who needed reflux meds (none as badly as that baby girl I was referencing) grew out of needing the meds between 9 and 15 months.

That baby was never diagnosed with any special needs other than horrific reflux and left our program at 12 months once their 2nd baby was born (nanny for both kids) so I'm not sure how she was as a toddler.

Overall, enjoy your smiley baby and perhaps the more often but tiny feeds would help her? I'm so happy the alimentum has seemed to help, combined with the different medication. that's great news. We've had kids on alimentum for allergies but not for reflux, but whatever works is great!

PS: As an abundance of caution, I would suggest you keep a strict watch out for food allergies and go slowly when introducing her to milk, nuts, peanuts.... might have absolutely nothing to do with each other, but perhaps she has reflux but also food allergies... I've noticed that many children needing alimentum ended up with food allergies once on table foods, and also babies with really bad exzema often have food allergies.

[Anonymous]

Hi Op,

I've been in your shoes. Our DD was born at 39.5 weeks at 4 lbs 12 oz. She gained weight as an infant, but verrry slowly. She did well on breastmilk, however so we did not have feeding difficulties, but she was a very late talker and continues speech therapy at 3 for oral-motor planning. She also looked funny as a baby--giant eyes, tiny face, ears sticking out and a bit low. I googled a lot of syndromes, but held off on genetic counseling (we had actually seen Rosenbaum during pregnancy because we had a weird result on our amnio, but seems unrelated, though who knows, we were going to go back, at some point and then.... we gave it time, she got bigger, and she just had her 3rd year checkup and she's gone from not on the growth chart to 4th (1 year) to 10th (2 year) to 20th at 3 years.

She's also happy, healthy, talkative, mischevious and intelligent and while she still has huge eyes and small features, she no longer looks as funny.

I think its great you are seeing Rosenbaum, he is very thorough, but I just wanted to empathize with you, as I recall being very worried the first couple months as well.

[Anonymous]

Anonymous wrote:OP: re: 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.

Can you feed her more often, based on how many ounces she took before she refuses? I direct a center and had a child with VERY BAD REFLUX and (smart baby) she knew it was the bottles that made her hurt so she would just refuse. so there was an elaborate method to feed her and how many hours between feeds was based on # ounces she drank at the feed. So, if she drinks 1 ounce before refusing more, she would get next feed 1 hour later. If she had 2 ounces, 2 hours before next feed, 3 ounces? 3 hours before next feed (and no more than 3 hours between feeds, she never drank much at each feeding).

Sitting her up more to take bottles kind of worked, rocking in a quiet area with no distractions kind of worked, dream feeds kind of worked, everything kind of worked. also having her sit up for 30 minutes after every single feeding no matter what made a difference - she couldn't handle a bumbo chair because that pommel put too much pressure on her tummy so she had a recliner (bouncy) seat that she sat in after each feeding and the teachers played with her, she played with toys, etc.

(We had one teacher who could get her to eat, the other 2 couldn't really, so that teacher just did whatever was necessary for that baby for 10 months and the other 2 teachers understood - it was a great team, but I digress)

I will say that this baby loved baby food - she didn't have the negative associations with food as she did with the bottle (seeing the bottle would often make her arch her body and cry, poor thing) and she could keep baby cereal down like a pro so that really helped as she at more foods (mixed with formula to get that into her). Perhaps this will help your daughter, too.

For strength, you don't have to force tummy time - it hurts to put pressure on your tummy if your reflux is bad - but if you hold her on your shoulder she can arch her back and look around.... you can work on her core strength (which is the importance of tummy time) when she's a bit older and the reflux subsides - even see a physical therapist or occupational therapist if you must to get good ideas for working on core strength once she's over this hump and is 9 months old or something (she will get over the reflux hump, I'm sure, but I'm sure it feels like this is a very LOOOOONG hump - the multiple babies we've had in care who needed reflux meds (none as badly as that baby girl I was referencing) grew out of needing the meds between 9 and 15 months.

That baby was never diagnosed with any special needs other than horrific reflux and left our program at 12 months once their 2nd baby was born (nanny for both kids) so I'm not sure how she was as a toddler.

Overall, enjoy your smiley baby and perhaps the more often but tiny feeds would help her? I'm so happy the alimentum has seemed to help, combined with the different medication. that's great news. We've had kids on alimentum for allergies but not for reflux, but whatever works is great!

PS: As an abundance of caution, I would suggest you keep a strict watch out for food allergies and go slowly when introducing her to milk, nuts, peanuts.... might have absolutely nothing to do with each other, but perhaps she has reflux but also food allergies... I've noticed that many children needing alimentum ended up with food allergies once on table foods, and also babies with really bad exzema often have food allergies.

you sound amazing. no chance you'd tell us the name of your center, is there?

[Anonymous]

OP, my dd had reflux as an infant. I thought she would never gain weight, that she would never grow up. It seems that your dc may have other symptoms, but reflux had a strong impact on my DC's growth. I am not sure how we got through it all. But the reflux went away sometime after she turned one, and her growth/weight curve then evolved in a more typical fashion.