Learning that our two year old has a mitochondrial illness

[Guest guest]

My husband ans I have worked with s Hopkins in Baltimore, we are

now working with Childrens in DC. In August of last year our little

girl was hospitalized after loosing all mucle control in a two week

period. At that time she was diagnosed with myocitis. After there

weeks we were sent home with the news that she would get better. It

is now the end of Feb. 04. We have learned that she didn't have a

case of myocitis, rather a disorder in the mitochondrial chain. We

are on the road to genetic testing, a skin biopsy, and MRI. Our

child has a lot of ups and downs. Some days she seems almost

typical, others she is weak and hardly moving. We haven't met any

families who are going through this process, or have gone through

it. We are hoping to share the ups and downs with people going

through the same thing. One of our biggest difficulties is keeping

friends and family informed on a level that they can understand. It

is really hard.

[Guest guest]

hi and welcome to the group.

i have a daughter, dx with leighs, who is 4 yrs old. we also go to

childrens in dc and see dr. carol greene....is that who you all go

to? (we see dr. bruce cohen, cleveland, as well) We live in

western maryland.

our daughters are probably showing different symptoms, as my anna

grace is (and always has been) nonverbal and nonambulatory.

however, it is always nice to connect with people who understand

this disease!

please feel free to ask any questions.

bethany

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

> My husband ans I have worked with s Hopkins in Baltimore, we

are

> now working with Childrens in DC. In August of last year our

little

> girl was hospitalized after loosing all mucle control in a two

week

> period. At that time she was diagnosed with myocitis. After there

> weeks we were sent home with the news that she would get better.

It

> is now the end of Feb. 04. We have learned that she didn't have a

> case of myocitis, rather a disorder in the mitochondrial chain. We

> are on the road to genetic testing, a skin biopsy, and MRI. Our

> child has a lot of ups and downs. Some days she seems almost

> typical, others she is weak and hardly moving. We haven't met any

> families who are going through this process, or have gone through

> it. We are hoping to share the ups and downs with people going

> through the same thing. One of our biggest difficulties is keeping

> friends and family informed on a level that they can understand.

It

> is really hard.

[Guest guest]

hi and welcome to the group.

i have a daughter, dx with leighs, who is 4 yrs old. we also go to

childrens in dc and see dr. carol greene....is that who you all go

to? (we see dr. bruce cohen, cleveland, as well) We live in

western maryland.

our daughters are probably showing different symptoms, as my anna

grace is (and always has been) nonverbal and nonambulatory.

however, it is always nice to connect with people who understand

this disease!

please feel free to ask any questions.

bethany

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

> My husband ans I have worked with s Hopkins in Baltimore, we

are

> now working with Childrens in DC. In August of last year our

little

> girl was hospitalized after loosing all mucle control in a two

week

> period. At that time she was diagnosed with myocitis. After there

> weeks we were sent home with the news that she would get better.

It

> is now the end of Feb. 04. We have learned that she didn't have a

> case of myocitis, rather a disorder in the mitochondrial chain. We

> are on the road to genetic testing, a skin biopsy, and MRI. Our

> child has a lot of ups and downs. Some days she seems almost

> typical, others she is weak and hardly moving. We haven't met any

> families who are going through this process, or have gone through

> it. We are hoping to share the ups and downs with people going

> through the same thing. One of our biggest difficulties is keeping

> friends and family informed on a level that they can understand.

It

> is really hard.

[Guest guest]

hi and welcome to the group.

i have a daughter, dx with leighs, who is 4 yrs old. we also go to

childrens in dc and see dr. carol greene....is that who you all go

to? (we see dr. bruce cohen, cleveland, as well) We live in

western maryland.

our daughters are probably showing different symptoms, as my anna

grace is (and always has been) nonverbal and nonambulatory.

however, it is always nice to connect with people who understand

this disease!

please feel free to ask any questions.

bethany

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

> My husband ans I have worked with s Hopkins in Baltimore, we

are

> now working with Childrens in DC. In August of last year our

little

> girl was hospitalized after loosing all mucle control in a two

week

> period. At that time she was diagnosed with myocitis. After there

> weeks we were sent home with the news that she would get better.

It

> is now the end of Feb. 04. We have learned that she didn't have a

> case of myocitis, rather a disorder in the mitochondrial chain. We

> are on the road to genetic testing, a skin biopsy, and MRI. Our

> child has a lot of ups and downs. Some days she seems almost

> typical, others she is weak and hardly moving. We haven't met any

> families who are going through this process, or have gone through

> it. We are hoping to share the ups and downs with people going

> through the same thing. One of our biggest difficulties is keeping

> friends and family informed on a level that they can understand.

It

> is really hard.

[Guest guest]

Welcome to the group...

sorry you have a reason to be here. How old is your child?

One thought for you...dont' allow them to do another frozen biopsy...get a fresh one next time...its the most accurate (altho not fool-proof) way to get a firm dx. There are only three places in the US that does them though...where are you guys? There is a fantastic mito doc in Boston if you are in New England but he doesn't do bx but can tell you if you need another one and will send you to Georgia.

Getting families to grasp the reality of what we are dealing with is quite difficult...let us know if you need help with that...

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]

Welcome to the group...

sorry you have a reason to be here. How old is your child?

One thought for you...dont' allow them to do another frozen biopsy...get a fresh one next time...its the most accurate (altho not fool-proof) way to get a firm dx. There are only three places in the US that does them though...where are you guys? There is a fantastic mito doc in Boston if you are in New England but he doesn't do bx but can tell you if you need another one and will send you to Georgia.

Getting families to grasp the reality of what we are dealing with is quite difficult...let us know if you need help with that...

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