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Genetics appointment update we have a working diagnosis

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DragnHeart posted 5/9/2013 07:15 AM

We had our follow up appointment with our genetics team yesterday. Dd underwent a full exam again and they have told us that as of right now they are giving her a "working diagnosis" of Russel Silver Syndrome but will continue to investigate.

She will now be included into a specific study of children who seem to fit the RRS diagnosis but do not have the genetic proof (50% do not) They said in the last year genetic testing and analysis has come a long way and they are able to see small changes in the genes, not just the chromosomes. They can also test now for other syndromes that cause poor growth.

She continues to be apart of the international growth study.

They also want to begin testing her brother as he too is small for his age and has lower set ears and a large head. They said that changes within the genetics of the same syndrome can show up differently in siblings so while he eats and poops just fine he may also be affected.

Both kids have very fine hair, thin skin (you can see every vein), triangular shaped faces, extremely small rippled teeth (which could be just because they are small...or not), absolutely no fat on their bodies and speech issues (DS still needs to be assessed for speech but appears to be behind).

The paperwork is piled high and I now have to get a referral from our pediatrician for DS to be included into the genetic studies. Once the genetics department figures out if they have enough blood from previous visits, what clinical and research tests they want to do and in what order I will be sent out consent forms.

Wh isn't really interested in continuing. He hates putting dd through tests and now DS just makes him hate it more. I asked if there could be long term effects that would make going forward necessary. They said that's exactly the question to ask. The testing might give us a formal diagnosis, something that cannot be cured. But. It may give us an idea of what possible health concerns we should keep watch for in the future.

It's both exciting and scary. I'm excited because I will have paperwork for the school board now that will help us with continuing DD's services and excited to see if we will discover a new syndrome. Having a child with issues but no explanation is frustrating. Perhaps these studies will benefit other parents who have a small baby who doesn't thrive. They'll be able to see right away that it's "whatever syndrome" and not go through the hell of being accused of neglecting their child.

I'm still scared and worried for my kids but one step at a time. We won't get results right away but at least the process is underway.

jo2love posted 5/9/2013 12:52 PM

I'm so glad that the drs have an idea of what she and your ds might have. Please keep us updated.

DragnHeart posted 5/9/2013 14:41 PM

It is good that they are willing to go that far with a "working diagnosis" to help us with the school board. The crappy part was hearing how they want to test DS. He's so different than his sister, we never really considered he might be classed in the same category as dd.

JessicaFL127 posted 5/9/2013 16:40 PM

I've been there too honey. Good luck!

StrongerOne posted 5/9/2013 20:06 PM

Hey DragnHeart,
I've been following your story -- so glad they are getting yr DD in a study and that it's helping her get school services! Why doesn't your H want the kids in the studies? Are the tests painful? Or have side effects?

Here's hoping the docs will learn more about your DD's sitch, and will be able to figure out some ways to help her and other kids with the same syndrome.

And I want to let you know that you are really a great example of a mom -- so strong and dedicated to doing the best for your kids, not taking "no" from school systems and medical systems. I really admire what you are doing.

DragnHeart posted 5/10/2013 18:23 PM


Your post brought tears to my eyes. Thank you!!! I have never considered myself strong. If anything I feel like I'm just scraping by. It feels so good to think others think I'm strong

Wh doesn't like the testing. It's not bad. Just bloodwork but dd has had so much blood taken she's terrified of hospitals. Each time she asks of they are going to take her blood.

Grace and Flowers posted 5/11/2013 21:13 PM

It's good to have some kind of answer, isn't it? My DS also has a Rare Disease. He's one of only two people in St. Louis with it. Of course, he's now in a study too, and had genetic testing. The most painful test was the bone marrow biopsy. And every time he goes to the oncologist now, they take 18 - EIGHTEEN - vials of blood.

I raised two boys with special needs...been there. Keep staying strong! We ARE strong.

DragnHeart posted 5/12/2013 00:40 AM


It is in one way a relief that they've given us this diagnosis to work with but scary too. Since neither of my kids perfectly fit the RSS profile and it hasn't been confirmed in the tests they have done so far it makes me wonder what they will find, if anything, through the new tests.

Dd will be included in a study of kids like her. Close to fitting rrs but not 100%. She has a lot of the traits but just doesn't perfectly fit it. DS has some of the traits that I would say fit better, visually, but not the eating or digestive issues.

Genetics is so confusing!

I am so sorry your guy had Togo through all of that!!!!! I pray that taking blood is the only thing they want to do with mine.

Grace and Flowers posted 5/12/2013 21:02 PM

Yeah, it can be crazy-making not to know for absolute sure. One thing I've learned in 20 years of special needs kids....nothing about the human body is an exact science. Every body presents differently.

And with our kids, the best person who can say for sure of something is "off" is US....the parents. Always stick with your gut feelings....and take it one day at a time.

Hugs to you!

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