Re: pediatric neurotransmitter disorders

[Guest guest]

not sure how many children have this but if anyone has any more info please send it to me

Hi ,

My daughter also had this same neurotransmitter disorder. When she saw Dr. Shoffner in Atlanta for a muscle biopsy in August, 2002, he sent some of cerebrospinal fluid to Dr. Hyland's lab at Baylor. She was found to have the same methylfolate deficiency that is described in the Good Morning America article. (She also had mito, Complex I.) We started her on Leucovorin in October, 2002. I spoke with Dr. Hyland by phone, and can tell you that he is a compassionate, warm person who is very committed to helping families. My daughter's progress after starting the Leucovorin was quite remarkable. There was about a 2 week window where it felt like she was becoming a different person, with improved skills in a number of areas. Unfortunately, after that she came down with a series of infections, and spiraled downward as her mito rapidly progressed. She died in December 2003.

At the time of her diagnosis with the neurotransmitter disorder, we were told that she was the only known case of mito and this particular disorder. It's my understanding that there is some thought now that perhaps in some cases the neurotransmitter disorder might be secondary to the mito.

Maggie

[Guest guest]

not sure how many children have this but if anyone has any more info please send it to me

Hi ,

My daughter also had this same neurotransmitter disorder. When she saw Dr. Shoffner in Atlanta for a muscle biopsy in August, 2002, he sent some of cerebrospinal fluid to Dr. Hyland's lab at Baylor. She was found to have the same methylfolate deficiency that is described in the Good Morning America article. (She also had mito, Complex I.) We started her on Leucovorin in October, 2002. I spoke with Dr. Hyland by phone, and can tell you that he is a compassionate, warm person who is very committed to helping families. My daughter's progress after starting the Leucovorin was quite remarkable. There was about a 2 week window where it felt like she was becoming a different person, with improved skills in a number of areas. Unfortunately, after that she came down with a series of infections, and spiraled downward as her mito rapidly progressed. She died in December 2003.

At the time of her diagnosis with the neurotransmitter disorder, we were told that she was the only known case of mito and this particular disorder. It's my understanding that there is some thought now that perhaps in some cases the neurotransmitter disorder might be secondary to the mito.

Maggie

[Guest guest]

not sure how many children have this but if anyone has any more info please send it to me

Hi ,

My daughter also had this same neurotransmitter disorder. When she saw Dr. Shoffner in Atlanta for a muscle biopsy in August, 2002, he sent some of cerebrospinal fluid to Dr. Hyland's lab at Baylor. She was found to have the same methylfolate deficiency that is described in the Good Morning America article. (She also had mito, Complex I.) We started her on Leucovorin in October, 2002. I spoke with Dr. Hyland by phone, and can tell you that he is a compassionate, warm person who is very committed to helping families. My daughter's progress after starting the Leucovorin was quite remarkable. There was about a 2 week window where it felt like she was becoming a different person, with improved skills in a number of areas. Unfortunately, after that she came down with a series of infections, and spiraled downward as her mito rapidly progressed. She died in December 2003.

At the time of her diagnosis with the neurotransmitter disorder, we were told that she was the only known case of mito and this particular disorder. It's my understanding that there is some thought now that perhaps in some cases the neurotransmitter disorder might be secondary to the mito.

Maggie

[Guest guest]

, was the muscle biopsy fresh or frozen? I'm guessing frozen if it wasn't done in one of the major centers that does fresh muscle biopsies. Did it show anything, or was it completely negative?

Best of luck when you are seen in Birmingham. Please let me know how it goes.

Maggie

[Guest guest]

Maggie, thank you so much for your reply.. we are trying to get her

doctors to send her to shoffner, but have had no luck...she was seen

in baltimore by dr.richard kelly, so the doctors here say that is

good enough for them... she had a muscle biopsy but it was doon at a

military hospital and i have been told that they messed it

up...however they are going to send her to a new genetics doctor in

birmingham next month maybe I can get them to atleast contact baylor

about doing the test...

monica

[Guest guest]

Maggie, thank you so much for your reply.. we are trying to get her

doctors to send her to shoffner, but have had no luck...she was seen

in baltimore by dr.richard kelly, so the doctors here say that is

good enough for them... she had a muscle biopsy but it was doon at a

military hospital and i have been told that they messed it

up...however they are going to send her to a new genetics doctor in

birmingham next month maybe I can get them to atleast contact baylor

about doing the test...

monica

[Guest guest]

Maggie, thank you so much for your reply.. we are trying to get her

doctors to send her to shoffner, but have had no luck...she was seen

in baltimore by dr.richard kelly, so the doctors here say that is

good enough for them... she had a muscle biopsy but it was doon at a

military hospital and i have been told that they messed it

up...however they are going to send her to a new genetics doctor in

birmingham next month maybe I can get them to atleast contact baylor

about doing the test...

monica

[Guest guest]

it was frozen, the army told us it was negative but, dr. kelly said

it showed a decrease in activity in complexes 1 and 3, but that

could be due to mishandleing of the sample....

> , was the muscle biopsy fresh or frozen? I'm guessing

frozen if it

> wasn't done in one of the major centers that does fresh muscle

biopsies. Did it

> show anything, or was it completely negative?

>

> Best of luck when you are seen in Birmingham. Please let me know

how it goes.

>

> Maggie

[Guest guest]

hi monica,

i was just wondering if you had talked with dr. shoffners office

personally.....when we took anna grace, his office took care of

every detail, including contacting our insurance and having it

preapproved.

just an idea, do not know if it will help.

how is your daughter? we spoke on the phone a while back when you

were still living in md. hope things are going well for your family

and you are happy living down south!

take care,

bethany

mom to brennan 7, palmer & anna grace (leighs) 4

> > , was the muscle biopsy fresh or frozen? I'm guessing

> frozen if it

> > wasn't done in one of the major centers that does fresh muscle

> biopsies. Did it

> > show anything, or was it completely negative?

> >

> > Best of luck when you are seen in Birmingham. Please let me

know

> how it goes.

> >

> > Maggie

[Guest guest]

yes I agree about calling shoffner's office directly. I sent my own copies of 's records b/c my doctor was dragging his feet...usually he wants a drs letter. Anyway, his office called straight away and said Dr S wanted to see him and once we had our funding in place (we had to raise funds b/c of insurance), we had an appointment ten days later.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

yes I agree about calling shoffner's office directly. I sent my own copies of 's records b/c my doctor was dragging his feet...usually he wants a drs letter. Anyway, his office called straight away and said Dr S wanted to see him and once we had our funding in place (we had to raise funds b/c of insurance), we had an appointment ten days later.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

hi bethany,

breana is doing great she is going to school full time, and hasn't

been it the hospital for a year. I am so glad to be living close to

family again..

I just contacted his office today and I am waiting on a call back,

but her doctor wants to wait until she sees the genetics doctor in

birmingham befor he will send a refferal.

how is anna grace doing? I dont get time to post much but I try to

read everyones post..I am going to start to work at home soon so I

should have more time on my hands to post and chat with everyone..

monica

> > > , was the muscle biopsy fresh or frozen? I'm guessing

> > frozen if it

> > > wasn't done in one of the major centers that does fresh muscle

> > biopsies. Did it

> > > show anything, or was it completely negative?

> > >

> > > Best of luck when you are seen in Birmingham. Please let me

> know

> > how it goes.

> > >

> > > Maggie