Kylie's diagnosis

[Guest guest]

I am a new member to this group, and I am writing about my

granddaughter, Kylie, who is 13 months old. Her symptoms are

uncontrollable seizures, severe developmental delays, poor muscle

tone, lack of appetite, and perhaps others I may have forgotten. She

cannot hold her head up or sit up and she doesn't respond to her name

or focus when spoken to. She had a muscle biopsy on March 11, and

last Tuesday the doctors told my daughter and her husband that she

was borderline Complex I, but they were very vague in their

diagnosis. By 6 months old she had learned to roll over and grab her

feet, but when her seizures began again after being controlled for

several months, the doctors began changing her medication. She is

now on three meds for seizures and she does nothing. Her development

has reversed. My son-in-law doesn't want to believe it is a mito

problem, but it appears to be. She is scheduled to get a feeding

tube next week. Does any of this sound familiar to anyone? Can

anyone tell us what is the best thing to do? Her pediatrician said

he could contact Dr. Cohen at the Cleveland Clinic since he interned

there and knows him. Any suggestions would be greatly appreciated.

Thanks.

Kylie's grandma, Joann

[Guest guest]

Hi Joann,

A lot of what you've said sounds similar to symptoms that other kids in this e-mail group have. Check out the website for UMDF. If you type in a search under UMDF, you should come up with the website for Mitochondrial disorders. They have lots of information there that is very helpful. My son, Asher, as of yet undiagnosed (he had a muscle/skin biopsy done in January and we are waiting results) has had poor muscle tone, fatigue, developmental delays (but with speech therapy this aspect of development has completely caught up), and poor appetite, along with gastrointestinal dysmotility. He had a g-tube put in in March and, although it was one of the most difficult decisions I've ever had to make, I'm so glad we did it. He has no problem chewing and swallowing, but, whenever he ate just a few bites, he would become so bloated that he'd lose his appetite. We found out that he has dysmotility in his gut (which occurs a lot in mito - at least from what I"m reading). He's finally gained 2 pounds and looks really healthy, except that he's still pale. Being able to get adequate nutrition has also given him a bit more energy. I do know that there are others on this list that deal with seizures and I'm sure they will share their experience with you.

Good luck. This is a wonderful, wonderful group. Full of lots of information and support.

Anne R

[Guest guest]

Thanks so much for your reply. Just knowing that your son did so

much better after his tube was put in helped my daughter feel better

about the decision. My daughter, Sally and her husband, also

had a hard time making that decision. Thanks again.

Joann

> Hi Joann,

>

> A lot of what you've said sounds similar to symptoms that other

kids in this

> e-mail group have. Check out the website for UMDF. If you type in a

search

> under UMDF, you should come up with the website for Mitochondrial

disorders. They

> have lots of information there that is very helpful. My son, Asher,

as of yet

> undiagnosed (he had a muscle/skin biopsy done in January and we are

waiting

> results) has had poor muscle tone, fatigue, developmental delays

(but with

> speech therapy this aspect of development has completely caught

up), and poor

> appetite, along with gastrointestinal dysmotility. He had a g-tube

put in in March

> and, although it was one of the most difficult decisions I've ever

had to

> make, I'm so glad we did it. He has no problem chewing and

swallowing, but,

> whenever he ate just a few bites, he would become so bloated that

he'd lose his

> appetite. We found out that he has dysmotility in his gut (which

occurs a lot in

> mito - at least from what I " m reading). He's finally gained 2

pounds and looks

> really healthy, except that he's still pale. Being able to get

adequate

> nutrition has also given him a bit more energy. I do know that

there are others on

> this list that deal with seizures and I'm sure they will share

their

> experience with you.

>

> Good luck. This is a wonderful, wonderful group. Full of lots of

information

> and support.

>

> Anne R

[Guest guest]

Welcome to the group. My son Wyatt, age 5, has Complex I. He was

diagnosed at the Mayo clinic by Dr. Whiteman. He also has seizures

and has had them since he was 18 hours old. My son has been on a

few different seizure meds, and the one thing I learned is that just

because the doctors have a theraputic level in which they want their

patients at does not mean that that is the level my child should be

at. The levels represent where the majority of the people have

control of their seizures at. For Wyatt being at the theraputic

level kept him glassy eyed an unable to pay attention. When we

lowered the levels he became more aware of his surroundings and the

seizures did not increase. If you feel your granddaughter is over

drugged tell her doctor. See if they will slowly lower the level

and see what kind of seizure control you get. My son also has a

feeding tube. Like someone else said, it was the hardest decision

to make. At 6 months of age we were told Wyatt would need a tube.

Finally at age 5 we had one put in and I could not be happier. Meds

are so much easier to administer. Also I know we can keep him

hydrated and well fed. If your doctor is able to talk to Dr. Cohen

I would take him up on it. It always helps to have someone who

specializes in Mito oversee your childs care. If you have any

further questions feel free to ask or post to the group. Someone

should be able to help.

Geri-Anne and Wyatt, Complex I

-- In Mito , " djrunkle " wrote:

> I am a new member to this group, and I am writing about my

> granddaughter, Kylie, who is 13 months old. Her symptoms are

> uncontrollable seizures, severe developmental delays, poor muscle

> tone, lack of appetite, and perhaps others I may have forgotten.

She

> cannot hold her head up or sit up and she doesn't respond to her

name

> or focus when spoken to. She had a muscle biopsy on March 11, and

> last Tuesday the doctors told my daughter and her husband that she

> was borderline Complex I, but they were very vague in their

> diagnosis. By 6 months old she had learned to roll over and grab

her

> feet, but when her seizures began again after being controlled for

> several months, the doctors began changing her medication. She is

> now on three meds for seizures and she does nothing. Her

development

> has reversed. My son-in-law doesn't want to believe it is a mito

> problem, but it appears to be. She is scheduled to get a feeding

> tube next week. Does any of this sound familiar to anyone? Can

> anyone tell us what is the best thing to do? Her pediatrician

said

> he could contact Dr. Cohen at the Cleveland Clinic since he

interned

> there and knows him. Any suggestions would be greatly

appreciated.

> Thanks.

> Kylie's grandma, Joann

[Guest guest]

I do not know too much about complex 1 in particular, my child has nonspecific mito. But, Dr. Cohen has literaly saved her life. She has some muscle involvement, but she is still able to walk and move about age appropriate. She aslo has a g tube, but we do not feed her through it. Her tube is primarily for her medications and for fluid when she is ill. For her the g tube was one of the best decisions we made. Even with her not being fed through it she has gained a ton of weight (now getting her medicines properly), and we have avoided hospital stays at least twice. Best wishes getting into Cohen. It will probally take along time to see him (I have heard upwards to 10 months to a year) but, he is great when you do get to see him.