Re: Home from NY city

[Guest guest]

I am glad to hear you made it through all the traveling and

appointments ok and are back home again. Sounds like the visit with Dr.

Hirano was very profitable and worth the trip. Glad to hear it. I hope

they are able to find some good ways to help you to do better. I am sure it

must be hard to know you have a rarer form and to not be able to find any

information on it. We will continue to pray for you. Glad to see you back

home.

See www.caringbridge.org/ia/mitomomof9 and this link to see a real look into

Mito using a photo collage of my girls at www.heartbeatsformito.org

Darla: mommy to

Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomy, SID, dev. delays, asthma, cyclic vomiting...

Zipporrah (12 months) Mito, strokes, neuro-motor planning dysfunction, SID,

GERD, 100% G-tube fed, asthma, trach issues, aberrant subclavian artery,

disautonomy, hypo & hypertonicity, migraines, possible seizures, dumping

syndrome, iron deficiency...

Luke (16), Leah (14), Rachael (12), Isaac (10), Tirzah (8), Kezia (3), &

Marquis (2) (some with Mito symptoms)

Home from NY city

> We arrived home late Mon. It was a very taxing trip on my body, but we had

> some fun times and really got to see alot too. I saw Dr. Hirano and he was

> wonderful. Spent about 2 hrs with me and was very thorough. He did a

> neurological exam and found some things that had never been discovered

> before. Not sure

> on the spellings of the conditions so I won't even attempt. It all

> pointed to

> severe malfunction of my autonomic nervous system. He said I had

> peripheral

> neuropathy and a multi system neuromuscular disease but not sure of the

> primary disease at this time. Unlike Dr. Cohen he doesn't think the

> carnitine

> deficiency is primary. He took another skin biopsy too. Dr. Hirano has

> been

> requesting my muscle specimen from CCF for months and as of yesterday it

> still had

> not arrived. He even called during my appt and couldn't get anywhere with

> them. Dr. Hirano said he could tell me something nearly immediately if he

> could

> just look at the muscle sample. It's being considered that I have a rarer

> than rare conditon not even seen before called Oligiomyopathy. I can't

> even

> find the word on the internet. He didn't say if or what could done about

> it, but

> just that it would even more rare than mitochondrial myopathy generally

> speaking. He made mention that they could introduce chromosones and that

> would

> help them determine genes? Over my head...and years down the road but

> interesting. I had an MRS done and those results aren't back yet. He

> ordered some

> bloodwork but nothing unusual or new. He left for Japan right after my

> appt so I

> won't hear anything for at least another week. Nothing was discussed as

> far

> treatment since we don't know exactly what were dealing with yet. Still

> waiting on the carnitine gene study in Atlanta too. I know it's been done

> since

> Nov. 1st and Schoffner just hasn't signed off on it. Both Cohen's and

> Hirano's

> offices have called and requested it too. I asked Dr. Hirano about a bone

> marrow transplant and he said I wasn't a candidate for that and the first

> one for

> a MNGIE patient was being done next month. I'll keep you updated as I

> hear

> more. Appreciated your prayers while I was away. Glad to be home again

> and

> back online.

>

[Guest guest]

,

I am so glad to hear you had a safe trip and made it back in one piece=) I certainly hope your drs can get to the bottom of your diagnosis and that there are some adequate treatments for you at the end of all of this. Hope you have a great holiday, I will keep you in my prayers!

e, Chelsea's mom, Atypical Rett Syndrome (FKA nonspecific mito)