Re: recently diagnosed with complex III

December 26, 2004

Hi,

My son (almost 4 years old) has mito, complex III and partial complex I defect. Knowing what specific defect (i.e. complex I, or II or III or IV or any combination of the above) ends up not being terribly helpful except for letting you know that it is a definite diagnosis of mitochondrial disease and where in particular the deficit is in the process of generating energy. Unfortunately, it does not give much sense of how the disease will manifest itself in each person. My son, Asher, has low muscle tone and some auditory nerve damage and is particularly severely affected in his gastrointestinal system. Following a flu last year, his intestines stopped working and he could no longer move solid food through his system and is now fed through a g-tube. He will probably end up having another type of tube put in to help him flush his bowels as he can't have a poop without a laxative. Yet, he is cognitively at or above age level right now; speaks well; and "looks" pretty normal.

The best place to gather information is at the umdf.org website and this group. I've learned so much from the members here. I'm sorry for you and your granddaughter but hope that you will take some comfort in the fact that you don't have to deal with this alone. There are many of us out here. Have the doctors begun to give her any of the supplements? COQ10, carnitor, and others - vitamin K1 (prescription only) has been supposedly noted to have a positive effect in kids with complex III defect, according to our metabolic/mitochondrial doc.

Anne R

December 26, 2004

Not sure how much help I can be. She sounds a lot like my

3-year-old, Sheldon. He is diagnosed with PDH deficiency. He doesn't

talk. He is also very affected by viruses and becomes more sensitive

to light, noise, and touch with/after illnesses. He also has

regressions with illnesses.

My five year old granddaughter was

recently diagnosed with complex

III. She is only now becoming verbal so she is unable to say

what

she is going thru. What is she feeling when she screams. and

I

would like to hear from anyone who has complex III so that perhaps

I

can understand some of what she is feeling or experiencing.

She has some sensory integration problems, ataxia, neurological

episodes of out of control flailing and screaming such a gutteral

scream. They last from 15 to 120 minutes. Never with any

warning

and nothing can be done to console her. When she is having an

episode or has been exposed to a virus she becomes less verbal. A

tremor in her hand, developmental delays and is severely affected

by

viral infections. When her sister gets a cold, she has bad

days

including more episodes and heightened sensitivity to light and

noise and being touched. She is easily agitated.

It all started for her when she was 20 months old. She seemed fine

until then.

WE are in TExas. //After 2 years of searching we finally have a

diagnosis.

I would love the hear from anyone who has first hand experience of

what she is going through.

Please contact mito-owner with any problems or

questions.

Yahoo!

Groups Sponsor

December 27, 2004

I read your post about your Granddaughter. I am an Adult Patient with

2 boys who are affected by Complex II-III Deficiencies. My younger

son is far more affected. He has a g-tube,seizures, is Mentally

Handicapped, visually handicapped and has motor and speech problems.

My older son is healthy except when he gets ill and then we see

muscle problems and weakness. As an adult, I have had muscle

problems, migraines, seizures, stroke like epsisodes, GI problems,

thryoid trouble, and other symptoms that have gotten more pronounced

over the years. I am sure that taking care of my boys and their

health issues have caused my disease to progress faster than it might

have without all the emotional and physical stress. Your

Granddaughter has several symptoms that my younger son had when he

was 3 or so years old, he is now 6 and more medically stable-thanks

to Dr Cohen at CCF. If you have any question you might want to ask me

please email me at Goldenfamily5@... and I would be happy to help.

>

> My five year old granddaughter was recently diagnosed with complex

> III. She is only now becoming verbal so she is unable to say what

> she is going thru. What is she feeling when she screams. and I

> would like to hear from anyone who has complex III so that perhaps

I

> can understand some of what she is feeling or experiencing.

>

> She has some sensory integration problems, ataxia, neurological

> episodes of out of control flailing and screaming such a gutteral

> scream. They last from 15 to 120 minutes. Never with any warning

> and nothing can be done to console her. When she is having an

> episode or has been exposed to a virus she becomes less verbal. A

> tremor in her hand, developmental delays and is severely affected

by

> viral infections. When her sister gets a cold, she has bad days

> including more episodes and heightened sensitivity to light and

> noise and being touched. She is easily agitated.

>

> It all started for her when she was 20 months old. She seemed fine

> until then.

>

> WE are in TExas. //After 2 years of searching we finally have a

> diagnosis.

>

> I would love the hear from anyone who has first hand experience of

> what she is going through.

December 27, 2004