Undiagnosed!

[MI-Lineman]

Thought I'd start a thread on what my son is goin through JUST cause so many posters on here have been so HELPFUL with info and OFFERIN PRAYERS and such! This is NOT an attempt at getting anyone to feel sorry for him or my family! We've learned to accept this and have worked and fought to make a life for all of us!!

Anyways our son was (we think?) born with a rare "undiagnosed" disorder! We noticed him not reachin his milestones around 6 months of age. He's now 7 years old. He never walked but crawled a little and "frog hopped" everywhere around the house! He had a limited vocabulary but could identify and say the primary colors, counted to 6 or 7, and followed me in singin the ABC's. He was and still is cognitively 100%! He loved playin with Matchbox cars and could eat and drink on his own. He always had "stiff" lower legs and was bowlegged. Originally at around 1 yr he was misdiagnosed with CP (cerebral palsy).

Around a year and a half he started "regressing, loosin skills! By 3 or 4 he lost ALL his ability to eat, drink, talk, and move! After countless doctors everywhere from here in central MI to Ann Arbor's U of M (GO BLUE!) to Shriners, Mayo, Cleveland Clinic, and New York his diagnoses of CP was thrown out and he is thought to have a rare....here we go..."degenetive neuromuscular movement disorder" like "Dystonia" but a more complicated and possibly new form?

He suffers from "High muscle tone" from the tips of his toes to his cute little nose and what is believed to be some sort of "Dystonic Storms" that cause EXTREME muscle tensing over his whole body? Basically his body goes hey wire, tenses up, and you can literally put a hand under his ankles and the other under his head and lift him off the floor and he will NOT fall through your hands? These "storms" last up to 2 days and cause excruciating pain, sweating, and sleepless nights! We've tried everything from pain meds, botox, a pump which he has now inside his body that runs a med through a tube in his spine and releases it in the neck vertebrae, to unapproved medicines from India and NOTHIN controlled them UNTIL NOW! We have gotten a new physiatrist (rehab and medicine doc) who started him on a med he knows to control these storms with others and it does seem to be working! Been almost 4 weeks since a storm that usually happens every other week!

We just got back from an "Undiagnosed Disease and Disorder" study at the National Health Institute of Maryland. We were there a week and they tested our little one for everything they could think of and have found some new clues and have an idea it may be a "Mitochondrial" disorder? Probably genetic! They have several blood (and other bodily fluids) tests and a skin biopsy that are pending and probably won't be back for 4 months or more! THEY ARE VERY THOROUGH THERE! That has got to be the first REAL example of tax dollars put to good use! They had us send ALL the medical records (and the wife has a lot) we have on him a few weeks prior to going and when we got there they had a team already picked to take on his case and they knew things about him we didn't even know! It was like they knew him most of his life and were just waiting for him to show up! They had a schedule (that was flexible btw) already set up for genetic testing, MRI's, ultrasounds, sleep study, EKG, EEG (that was freaky! Kinda like shock therapy?), and much much more including genetic testing for the rest of us!

Anyways that about sums it up! I have had a few people ask me about his illness and instead of typin this out over and over in PMs I thought I'd do it once!

Thanks to ALL you who offer prayers and help and know that the prayers may become reality as the NIH will work with us and our son until they find an answer and although they have only a 15% success rate in their research it sounds like that percentage maaaaay be goin up a tad?? They are truly "The best of the best" and the way they made great use of the time there the one thing they have given us when we left was HOPE!!

Thanks for reading!
MI

[electriklady]

May God keep your wife and you strong, and may he touch your "little guy" with his healing hands, even if it is through the hands of the doctors.

Prayers and good will for your family.

[MI-Lineman]

SEE RIGHT THERE! Words like that DO a lot for us!!

Thanks but you all must know that if it were not for my wife there's NO way we would have come this far! She's the REAL reason we're able to continue on with our lives and at the same time search for the answer!! She's a lot stronger than I could ever be!

I just drive the van!

Oh yeah and that "Give Kids The World" was TRULY another place of Hope and Inspiration!!

[Trbl639]

Thanks for filling us in Brother, and believe that you and yours, especially the little guy will be in our Prayers!!!

Prayer is a Powerful thing!!

[MI-Lineman]

Thanks for filling us in Brother, and believe that you and yours, especially the little guy will be in our Prayers!!!

Prayer is a Powerful thing!!

Yes sir it is!

Thank You!

[LostArt]

Thank you so much for sharing this buddy. What a blessing you and your family are to others!

I am so thankful that you have finally found a place that looks like can help your little blessing. Best wishes to you all.

[never_forget_our_brothers]

Prayer works my friend, I've seen it first hand and will pray for you and yours.

I almost had to head up to NIH myself with a spinal condition I have. I'm kinda glad I didnt get the invite though as they would have treated me like a guinea pig. I've already had one spinal tap and couldnt take many more...

[T-Man]

MI, Every other post has said what I would have, so just know you and yours are in my thoughts and prayers. . . Remember God only gives you what he knows you can handle and he must think a lot of you and your wife for sure.

T

[loodvig]

Your son is very lucky to have the parents he has! Good luck to all of you!

[Orgnizdlbr]

Prayers for your wife, your "little guy" and you. Stay strong!