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