Re:Celia/MNGIE

[Guest guest]

In a message dated 10/10/02 4:08:13 AM Eastern Daylight Time, writes:

Hi, i just joined your group today, although I have been suffering

from undiagnosed muscle and gi problems for about 14 years. Only

recently has my neurolgist questioned the combination of my muscle

weakness, fatigue etc and my gi motility problems.,combined with lots

of other weird things as possibly being a mitochondrial disease

(MNGIE?) I saw the geneticist last week and have had round one of

testing.

Celia,

I don't post much here, but your symptoms sound very familiar to me. I don't yet have a confirmed diagnosis, but have been seen be a couple good mito docs who do suspect that this is what I have as well. If I decide to, the next step will be a muscle biopsy to confirm it.

My symptoms started with severe GI dysmotility when I was 14 (10 yrs ago) and I receive most of my nutrition intravenously. Over the years, I have developed alot of other problems...autonomic nervous system dysfunction, possible peripheral neuropathy, muscle pain, weakness, and fatigue in my legs and now also my arms, chronic pancreatitis, hypoglycemia, overwelming fatigue, etc etc etc

I'm sure I am forgetting something! I have had the bloodtest for MNGIE, as this was the first mito disorder that they thought of for me, but that came back negative. I had one doctor that just assumed this meant that mito was ruled out completely. However, my understanding is that mito research is very much an evolving field and many of the types of mito are still being discovered.

Welcome to the list. They are a great group of people!

Malisa

[Guest guest]

Malisa and Celia

You are right Malisa, there are many more mito conditions than have names. There are around 100 different types of mito and only a handfull that have names. Actually the names only indicate a group of symptoms in many cases, but some have one or more genetic defects that can cause them. It is really complex. For most of us, a genetic defect will not be identified. Unless it is one of the few that can be tested for in blood, the cost of a search for our specific defect is prohibitive and not even possible at this time for defects in the nDNA as there are just too many genes.

laurie

From: Malilibear@...

Reply-To:

Date: Fri, 11 Oct 2002 01:01:16 EDT

To:

Subject: Re:Celia/MNGIE

In a message dated 10/10/02 4:08:13 AM Eastern Daylight Time, writes:

Hi, i just joined your group today, although I have been suffering

from undiagnosed muscle and gi problems for about 14 years. Only

recently has my neurolgist questioned the combination of my muscle

weakness, fatigue etc and my gi motility problems.,combined with lots

of other weird things as possibly being a mitochondrial disease

(MNGIE?) I saw the geneticist last week and have had round one of

testing.

Celia,

I don't post much here, but your symptoms sound very familiar to me. I don't yet have a confirmed diagnosis, but have been seen be a couple good mito docs who do suspect that this is what I have as well. If I decide to, the next step will be a muscle biopsy to confirm it.

My symptoms started with severe GI dysmotility when I was 14 (10 yrs ago) and I receive most of my nutrition intravenously. Over the years, I have developed alot of other problems...autonomic nervous system dysfunction, possible peripheral neuropathy, muscle pain, weakness, and fatigue in my legs and now also my arms, chronic pancreatitis, hypoglycemia, overwelming fatigue, etc etc etc

I'm sure I am forgetting something! I have had the bloodtest for MNGIE, as this was the first mito disorder that they thought of for me, but that came back negative. I had one doctor that just assumed this meant that mito was ruled out completely. However, my understanding is that mito research is very much an evolving field and many of the types of mito are still being discovered.

Welcome to the list. They are a great group of people!

Malisa