2 and barely doing anything...

preggersINschool25 · March 2014

It feels different now that Grant is officially 2. He has no meaningful movement such as rolling, crawling, walking. No motivation to even try. No words. No nonverbal communication like pointing. He just started to kind of play with toys. He won't even eat anymore and has had a g tube for the last year.

No real diagnosis.

All sorts of tests. Blood work, urine tests, spinal tap, MRI, mirroarray, whole exome sequencing...

He was born 40 weeks, healthy, 7lbs 11oz and no nicu time.

I don't understand how something can be so obviously wrong and still have no idea what the problem is after 18 months of testing. I know people have it worse, but usually there is a reason. I don't know what to do to try and help my little guy anymore.

realisticdreams · March 2014

:-\
Hitting an age milestone somehow always kind of throws everything that's atypical right into our face. Filling out the developmental checklists gets reallyyyyy old, because hey thanks for reminding me!

I'm sorry you're having trouble with the age 2 milestone. It sounds like you have pursued almost all avenues that I know are available. The only other testing I could think of would be maybe neuromuscular, like EMG testing and/or muscle biopsies? Is it possible to start over a portion of your search for a dx at a different hospital, even if travel is necessary? Sometimes they can set up a bunch of appointments in a 2 or 3 day timespan.

We have found many DX out about both of the girls, but we still have many more and before we found the umbrella DX it was like a bunch of random things and I wanted so badly to have something that connected them all together, a syndrome, anything.

I had a hard pregnancy with both girls with many issues, so I can understand that it makes it that much more of a wth is going on type thing.

We are always here for you, I hope you can find your answer soon or find peace with not getting the answer.

preggersINschool25 · March 2014

We have been traveling to Riley Childrens Hospital. We are in northeast Indiana. I'm open to other hospitals if anyone has a recommendation.

We see the neurologist in April and I was going to ask about an EEG and EMG. I was leaning towards no muscle biopsy because I've seen so many people regret it and our neurologist also deals with mito (Dr. Walsh) doesn't think it is mito. I'd probably consent to a skin biopsy.

ToastieSimons · March 2014

I am so sorry. We went 15 months without a diagnosis, all testing being negative and I know how awful it felt. Every time a new test was done I would get my hopes up only to be crushed. I am so sorry that you are still travelling down that path.

Hugs. I would ask Riley if they would be willing to send your records to Cleveland Clinic or Cincinatti Children's for a second opinion? I've heard great things about Riley, our opthalmologist did her residency there.

CaptainSerious · March 2014

Oh, how difficult it must be not to know what's wrong or how to help your little guy! I'm so sorry you are struggling, and pray you find answers soon.

stilts1 · March 2014

I just wanted to say that I'm sorry. We have a child that doesn't (won't) walk, talk, roll, sit, blah,blah,blah and I know how hard it is to watch. We are fortunte to have a diagnosis via MRI (lissencephaly). I hope that you find a Dr that is able to help with a diagnosis. At least for me, that brought some "closure" to the situation that we're facing. Good luck, mama!

macchiatto · March 2014

I'm so sorry you haven't been able to get any answers. And I'm guessing he's also in therapies without progress? I'm from Indy so I'm biased toward Riley

and have heard good things about it, but I agree it wouldn't hurt to get second opinions. I know that's so much easier said than done when you're already having to travel and have been through so much already. I hope you are able to get some clearer answers. My son was evaluated for mito recently but we ended up stopping short of a muscle biopsy too.

macchiatto · March 2014

@auntie They are painful and invasive. We were leaning toward doing one if it came to that just so we could get clearer answers, but the metabolic specialist said that b/c the rest of his test results (blood work and such) were either normal or inconclusive and that he's doing relatively OK and a Dx may not actually change that much at this point, he recommended holding off on doing the muscle biopsy/further mito testing for now. He said if DS does have a mitochondrial condition, that the symptoms would progress and if *that* happens, he would refer us for the muscle biopsy. He did give us an order for blood work and urinalysis if DS has another bout of unexplained vomiting as apparently there are some metabolic issues that may only show up during one of those episodes. But that's the only other testing he recommended at this point; we have a follow-up in 6 months.

And thanks for the insights about Indy medical care. That's interesting. Incidentally, I was born at St. Vincent.

Assembly_Reqd · March 2014

What about the mystery diagnosis people over at NIH? My friend is thinking about taking her son there. It is a bit of a process to get an appoinment. Her pedi has to write a letter of recommendation as well as send in all her child's records. After that, they set up an appointment. I imagine it is a long wait.

preggersINschool25 · March 2014

NIH? I'm not familiar.

Assembly_Reqd · March 2014

National Institute of Health Undiagnosed Diseases Program

https://rarediseases.info.nih.gov/research/pages/27/undiagnosed-diseases-program

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