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Raising Special Needs Kids Raising Special Needs Kids

Genetics appointment leave us with no answers................

Posted by on May. 16, 2012 at 5:45 PM
  • 12 Replies

In my previous post i talk about our appointment on Tues. Nero. Developmental Ped. and how gave us a holding DX of PDD-NOS  and about how he wanted to test for Mucopolysaccharidoses(MPS) syndromes, well I look up these syndromes and for first time i saw something that look like it had most of Robbie's symptoms and DX in one little box and i got really got scared but also thought we might have an answer , not one i look forward to but answer all the same, but today we seen genetics Dr and he says he sees the NDP's point but  he dose not think Robbie has a from MPS but he think there something they are missing, so I ask what he think Robbie might have and he says he doesn't know but not MPS but that they will test for. Now we have tested for almost everything and have not found any answers they do not have any more test to run except one the is still in the research process he said it not covered by insurance and cost about 15,000 but if  and when they get it approved Robbie can have it done on a research baseis cross our finger we get it cause if something doesn't come up on MPS testing or the research test then we will be left with no more test to run and no answers................

Here is a list of DXs , PhysicalFeatures, and behiavors in concern;

Offical DXs First:

  • VSD - Restrictive, feeding problems ( has a G-tube nothing oral except taste), Failure to Thrive, Under Weight, Short Stature, Microcephalus, Dysphagia, Esophageal Reflux, Horse Shoe Kidney, Renal Reflux( Grade 2 Bilateral),Chronic Diarrhea, Obstructive Sleep Apnea ( Has had Adenoids remove to help but still has noisy breathing), Glaucoma (has 5 surgeries to correct the first 3 failed so the last 2 they put in mechanical stunts to help keep down the pressures down), Optic Nerve Hypoplasia, Developmental Delays, Lack of Coordination, High Live Enzymes, Sensory Processing Issues, and PDD-NOS

Now for Physical Features and behaviors

  • Prominent Forehead, Protruding bottom lip and tongue, rough bumpy patches on his legs, hair on his back and sides of his face not dark but there, continues runny nose and excess secretions, grinding of his teeth, melt downs and shut downs daily, screaming episodes at night for no apparent reason every night2-4 times a night, he dose not walk ( dose stand and take steps with his push walker but is unsteady when trying to walk and is bent over with his left leg pointing out he will get  AFOs in a couple of weeks ), dose not talk (he dose babble and has one repetitive sound Da-Da), dose not gesture in anyway he is almost 17 months old

Sorry this is so long I just  needed to get it all out so thanks for reading this i apperciate all support i get from you Moms and if you have any ideas i would love to hear them.

 

thank you

by on May. 16, 2012 at 5:45 PM
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Replies (1-10):
Elyssa414
by Elyssa on May. 16, 2012 at 5:49 PM
I hope they find some answers for you! Must be so frustrating!! *hugs*
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Reinke_Mommy
by on May. 16, 2012 at 6:05 PM

 

Quoting Elyssa414:

I hope they find some answers for you! Must be so frustrating!! *hugs*

 Thanks!!!

 

mandee1503
by Amanda on May. 16, 2012 at 6:20 PM

*hugs* Hope some answers come up soon!

darbyakeep45
by Darby on May. 16, 2012 at 7:54 PM

Oh mama!  Hugs to you and I hope you get some answers soon!  

letstalk747
by Joy on May. 16, 2012 at 8:41 PM

hopefully they can do any further testing under the research umbrella ,

 i know how this is hang in there.

Reinke_Mommy
by on May. 17, 2012 at 10:21 AM
Thanks how long did it take to be accepted for reaseach testing and did you get any answers?


Quoting letstalk747:

hopefully they can do any further testing under the research umbrella ,

 i know how this is hang in there.

Posted on CafeMom Mobile
natesmom1228
by on May. 17, 2012 at 10:41 AM

Hugs. I hope they find something.

Alex825
by on May. 17, 2012 at 11:35 AM
1 mom liked this

I truly hope you get the answers you are looking for.  Sometimes there are no answers at all, and even with an answer,  it doesnt "fix" your child,may help with predicting future issues, however it  just puts a name on what they were born with. Sorry, I dont mean to sound like the DOOM lady. Just have gone through all the tests too. My DD is almost 22, undiagnosed. She is who she is, and will be no matter what. I too searched for years. 

Reinke_Mommy
by on May. 17, 2012 at 4:45 PM
I realize putting a name to the over all picture dose don't fix my child and I don't want fix him I love him just the way he is, it just that the GI Dr is running out of ideas the help Robbie my child is not gaining weight and has chronic diarhea,high liver emyzems and over all is an unhappy kid. The GI Dr seem to think if find out what he had we could treat him better. I just want to optimism the quality of my child life and make a happier Kid.

Quoting Alex825:

I truly hope you get the answers you are looking for.  Sometimes there are no answers at all, and even with an answer,  it doesnt "fix" your child,may help with predicting future issues, however it  just puts a name on what they were born with. Sorry, I dont mean to sound like the DOOM lady. Just have gone through all the tests too. My DD is almost 22, undiagnosed. She is who she is, and will be no matter what. I too searched for years. 

Posted on CafeMom Mobile
Alex825
by on May. 17, 2012 at 6:42 PM

Awe, I am so sorry, I miss understood. Your Son, definately needs a work-up with GI issues. What a total ass I am.  :(     I was talking about parents who get so wrapped up in putting a name on their child, not due to GI issues, just on a genetic level. Such as Down Syndrome etc. My daughter too has GI issues, and diarhea isnt one of them. She needs enemas and miralax and even that doent work to move her bowels. 

So sorry for being such a big poop head. 

One question, where do you live to have to wait to have for the kinds of testing you need? And not being covered by insurance and you have to wait for the testing too. I am just amazed. 

Quoting Reinke_Mommy:

I realize putting a name to the over all picture dose don't fix my child and I don't want fix him I love him just the way he is, it just that the GI Dr is running out of ideas the help Robbie my child is not gaining weight and has chronic diarhea,high liver emyzems and over all is an unhappy kid. The GI Dr seem to think if find out what he had we could treat him better. I just want to optimism the quality of my child life and make a happier Kid.

Quoting Alex825:

I truly hope you get the answers you are looking for.  Sometimes there are no answers at all, and even with an answer,  it doesnt "fix" your child,may help with predicting future issues, however it  just puts a name on what they were born with. Sorry, I dont mean to sound like the DOOM lady. Just have gone through all the tests too. My DD is almost 22, undiagnosed. She is who she is, and will be no matter what. I too searched for years. 


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