Re: MNGIE

[Guest guest]

Lori, I know just how you feel. Tonight my husband made the remark, " Yeah,

we thought so many times they would find what was wrong with you and then we

hoped with so and so, so what's to hope with ? " He is really feeling

down about it all, the constant searching and hoping and coming up

emptyhanded. He feels he works his whole life for nothing but medical bills.

Like tomorrow I need to go get more acetyl-carnitine for Shenan. She is out

and can't think again and HAS to function to find work and go to school.

They don't have $58 for the stuff. When will it ever end he feels? I am sad

for him but I HAVE to keep hoping and trying. I am like you, I would give

anything including my own life if only we could find a cure or even a

treatment that would make a normal life possible for the ones I love.

S.

Re: MNGIE

>

>

I feel like I can almost " taste " a cure or a treatment at

>the very least so I am going after this research opportunity like a

>bull dog. I'll quit my job and move to NYC if I have to. I'll sell

>my house and everything else I own if this opportunity will cure her.

>I will do anything to stop the progression of this stinkin disease!

>

>I guess you heard more than you wanted. I hope some of this

>information helps.

>

>Lori

>

[Guest guest]

Lori, I know just how you feel. Tonight my husband made the remark, " Yeah,

we thought so many times they would find what was wrong with you and then we

hoped with so and so, so what's to hope with ? " He is really feeling

down about it all, the constant searching and hoping and coming up

emptyhanded. He feels he works his whole life for nothing but medical bills.

Like tomorrow I need to go get more acetyl-carnitine for Shenan. She is out

and can't think again and HAS to function to find work and go to school.

They don't have $58 for the stuff. When will it ever end he feels? I am sad

for him but I HAVE to keep hoping and trying. I am like you, I would give

anything including my own life if only we could find a cure or even a

treatment that would make a normal life possible for the ones I love.

S.

Re: MNGIE

>

>

I feel like I can almost " taste " a cure or a treatment at

>the very least so I am going after this research opportunity like a

>bull dog. I'll quit my job and move to NYC if I have to. I'll sell

>my house and everything else I own if this opportunity will cure her.

>I will do anything to stop the progression of this stinkin disease!

>

>I guess you heard more than you wanted. I hope some of this

>information helps.

>

>Lori

>

[Guest guest]

Hi ,

Alycia is 4 1/2 years old.

Here are some more specfic links that I have found which should get

you launched:

http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?550900

http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?603041

http://www.neuro.wustl.edu/neuromuscular/mitosyn.html#mngie

From the reading that I have done, most of these disorders are an

autosomal inheritance and it is actually a Nuclear DNA defect. This

defect causes an error in the enzyme, Thymidine Phosphorylase such

that it properly complete the conversion of Thymidine+orthophosphate

to Thymine and deoxyribose. The result is a deficiency in Thymine and

deoxyribose. These are essential ingredients to building DNA (Thymine

is one of the 4 DNA bases) so the mDNA makes deletions and

substitutions in the areas where it runs short of Thymine. These mDNA

errors are what create the MNGIE symptoms. Those symptoms are Gastro

Intestinal Motility disorders, Mitochondrial Myopathy, Neuropathy

(sensory hearing loss, pain/numbness in the fingers & toes), and

Encephalopathy (degenerative changes in brain MRI). The MDA article

alluded to the fact that replacing Thymidine Phosphorylase or its

nucleotide products would treat the disease.

I am really hoping to get Alycia in on the trials. Even if they are

not at the point of testing treatments, I would like to get her in on

the trials that are studying MNGIE. The more we learn, the more we

can do for her. I don't want to wait for their treatment to be FDA

approved, it may be too late for Alycia by the time it is available.

I figure if I can get in on the trials, I can get an early crack on

the treatment.

I have already emailed Dr. Dimauro and I plan on calling him if I

don't get a response soon. My cousin lives in Hoboken NJ and has

offered to let Alycia and I stay with him if we have to travel to New

York. I have my pediatrician, GI doctor and metabolic doctor behind

me saying " Go For It! " . The metabolic doctor is going to examine

Alycia and do some tests to see if she possibly has MNGIE (Her GI

doctor thinks she fits the profile and I agree) then we can hopefully

worm our way into the research studies.

There is also a new motility drug being investigated and Alycia's GI

doc would like us to participate in those trials. She is the perfect

candidate since this drug targets people who have not responded to the

other available motility drugs. He is convinced that this will help

her. This would be a major step in the right direction for us but I

am very concerned about her continued loss of muscle mass.

Her stomach muscles are so small, I can feel her colon...I can almost

grab a hold of the abdominus rectus muscle right through her

skin....it is really gross. (The GI doc noticed this too and lamented

that there was nothing he could do to help her with her muscle loss &

weakness). I feel like I can almost " taste " a cure or a treatment at

the very least so I am going after this research opportunity like a

bull dog. I'll quit my job and move to NYC if I have to. I'll sell

my house and everything else I own if this opportunity will cure her.

I will do anything to stop the progression of this stinkin disease!

I guess you heard more than you wanted. I hope some of this

information helps.

Lori

BTW,

Anyone who is friends with Anne and , please make sure they get

these links. I think this info may pertains to both of them. I

haven't seen them on the lists so I am not sure they are getting this

info.