Forum: Genetic and Undiagnosed Disorders

In case you didn't catch my update on my previous thread: The researcher in Finland e-mailed me back in less than 24 hours and told me that the elevated blood counts Devon has would not exclude him. Also told me that they agreed many of Devon's features are a match for this syndrome (which I have yet to name on here...I'm feeling superstitious). They asked if he had ever been tested for exocrine pancreatic insufficiency as that would be present in almost all cases. Latest Update: I...

We saw the GI and surgeon today and spent some time talking about Karuna's Crohn's disease and her recent GI hemorrhages. Both doctors believe the bleeds stem from something congenital, like a duplication, Meckels diverticulum, or a vascular malformation. So, by my count, this is a list of all the UNRELATED diagnoses she has, in order of appearance. brain injury from ruptured velamentous insertion of umbilical cord (rare variant in 1% of pregnancies that virtually never causes issues)...

I am getting caught up on diagnosis issues again. We recently learned that Devon's midfacial hyposplasia is called Binder's Syndrome and that he has low bone density (2 standard deviations below). Found myself googling Binder's Syndrome and Osteoporosis and came upon a researcher who has presented a poster on the connection between them. Googled that researcher and found that he does a lot of research on a syndrome I had not previously heard of. Low and behold the features of that...

I spoke with someone at the NIH Undiagnosed Disease Program and she recommended we apply for Henry. The pedi got the referral written in 3 days!!! The records are ready and I am sending it all off tomorrow!! I am excited, nervous and scared!!!!!!!!!!!

We had our appointment with neurology today to discuss Nolan's staring spells (normal 20 minute EEG) and the central apnea. The nurse did a full physical and we went over Nolan's various health issues, and then the neurologist came in. He wanted to talk about Nolan's hearing loss (we're very used to this, but this was the first time he'd seen Nolan). Then he asked about the staring spells and watched our video. He thinks that Nolan's staring is just "inattention," which is what we figured, too,...

Sorry this is very long! My daughter is 10 months old. When she was born they used the vacuum and she spent 8 days in the NICU because of the swelling on her head they thought she had a subgaleal (sp?) hemorrage. She was not premature. It ended up not being this but they did find that her left ventricle is slightly larger (they think this may be due to some damage or lack of oxygen in utero but don't think it will effect her-noone really knows yet) she also has some lack of white matter on...

Our little guy has a few medical issues.. and I was wondering at what point a syndrome or more 'comprehensive' picture should be considered? I don't know if Nolan's few (rare) issues are all connected, or if we just hit the lottery several times in a row. We have no cause for any of it.. anyhow, his current list of diagnoses is: Moderate bilateral hearing loss Posterior urethral valves Failure to thrive (resolved- now in the 10th percentile!) Severe GERD (Nexium, 10mg/ 2x per day) Mild...

I'm looking for more information about these. Does anybody know of a child that has one? Many of them cause congenital cataracts and are not apparent at birth, delays slowly begin to creep up as the child grows older. One that seems worth looking into in Eliana is hypomyelination and congenital cataract. Anybody heard of this? TIA!

I'm sad to report this. I didn't want to be right. Eliana is delayed 40 percent in communication, 20 percent in gross motor and fine motor skills. She is delayed (unsure of the percent) in social/emotional skills. The only thing she tested age appropriately was cognitive skills. What this means in light of her congenital cataract and other medical history is a bit scary to me. Aside from the fact that this just means I have another speical needs child now. No dancing around it...

Way cool detailed overview of muscle biopsies with some interesting questions to ask any doc you are considering performing your biopsy. It's like an insiders guide. Created by Dr K with Virtual Medical Practice in Atlanta and she is a mito expert so should know what to look out for. Also, she is not a front from some lab. She orders tests that are needed and leaves a biopsy as the last resort because it’s so invasive and costly. I had no idea that in some cases there were blood tests that...

Found this place on a Mito website....anyone have any experience with them? "Virtual Medical Practice provides evaluation, consultation, biopsies, testing interpretation, diagnosis & management for children & adults with rare genetic, metabolic, mitochondrial & inherited disorders and is 100% focused on patient care." http://www.virtualmdpractice.com/

We finally talked with genetics today and received some clarification (if you can call it that) on the biopsy results. 1) there is abnormal patholoy - type 2 fibers were atrophyed and mitochondria were enlongated/enlarged 2) the enzymes were sinificantly deficient, but the report states that can not say this is indicative of mito as they feel that the sample was not large enough 3) everything else was nonspecific So, we are at square one. We were told this bx result does not make the...