Re: New to the group.

[Guest guest]

WELCOME Christy!!

In Mitochondrial diseases there are two types of inheritance possible....Mitochondrial

DNA or nuclear DNA. Some portion of both have been mapped and can

be tested for, though there is also alot that they do not know yet, so

you may or may not get some answers from this test. If its a mito

DNA problem, 100% of the children are affected however when and how they

present is very variable (this would also mean the mother and her mother

and so on are affected also, again with a very wide presentation possible).

If its a nuclear DNA problem, it follows a more traditional inheritance

pattern (i.e. Autosomal Dominant, Autosomal Recessive, etc) and means there's

a 25% chance of having another affected sibling, the affected siblings

will generally present more similarly (but not always), and its more likely

that one or both of the parents are carriers rather than affected.

I've simplified this tremendously, but it gives you a basic idea.

Looking forward to getting to know you and your family!!

BIG hugs,

Kass, proud mom to Chance(9), Madison(6) - both with confirmed mito,

unknown defect, and Abby(5) - suspected

McNair Family

Website

CaringBridge

- mitowhat

"momofmollyann " wrote:

Hi Everyone,

I just found out about this group from someone on the Infantile

Spasms group. I was so glad to find out about this group.

My daughter is Molly Ann and she just turned 2 in December.

She was

diagnosed at 5 months with having infantile spasms. Then

at 9

months she was diagnosed with CP and Microcephaly. They gave

her

ACTH for the IS and she was spasm free for one year. The

spasms

returned in April of last year. She had some blood test and

that is

when they found out she had too much lactic acid in her blood.

Our

Doctor( Ritter-Minnesota Epilepsy Group) suggested we should

go

to Atlanta, GA to see Doctor Schoffner to have a muscle biopsy

and

spinal tap. He thought she might have a mito disorder.

Six months

later we found out she did. They said her most prominent

defect is

with involves the flow of electrons through Complex I with some

slight decrease in IV. They also said that they would do

DNA

sequencing to differentiate between Nuclear mutation and

a

mitochondrial mutation once they see if our insurance will okay

it.

Can someone tell me what this means? I am still confused

about alot

of this. I am just so happy that she is alive and growing

after all

she has been through. She is very delayed in all areas.

She can't

sit, walk or talk. She does'nt feed herself, but she can

eat

regularly, so for that we are greatful.

When they found out about her mito disorder(no name) they changed

her supplements and added a bunch of things.

She takes:

B6

B Complex

Carnitor

CoQ10 with Vitamin E

Selenium

Biotin

MCT Oil

Fish Oil

She also takes:

miralax

gabatril

keppra

She had more energy once they changed her supps that is for sure.

They also had us take out all of the fat from her diet and all

of

the oil.

If someone has a similar situation please email. I already

love

this group.

Thank you and God Bless

Christy

Mom of 12, Connor 7 allergic to food dyes, and Molly Ann

2,

CP, Microcephaly, Infantile Spasms and Mitochondrial Disorder

Please contact mito-owner with any problems or

questions.