New @ posting

[Guest guest]

MELAS runs through my family in varying degrees. My mother (65yo),

my nephew (deceased 18yo), my sister (41yo), another nephew (5yo), &

3 neices (8,7,5yo) all have confirmed MELAS. Their presentations are:

My nephew, was adopted by my parents because my sister was

unable to take care of him due to her bipolar 1. He & I were raised

as siblings, so forgive me if I call him my brother and confuse you.

He presented with sensoronueural hearing loss at age 8. He stopped

gaining weight, had short stature, and muscle development had slowed

down. As the years went by he also had a lack of energy and

migraines. When he was 16, he started having grand mal seizures.

After many biopsies and tests, it was confirmed that he had MELAS.

His percentages were as follows: 49% blood, 78% muscle, 72% hair

follicles. Dilated cardiomyopathy was discovered at this time with

an ejection fracture of 20%. His heart was 3x's the size it should

have been. He had many ups & downs and hospitalizations for a year &

half before he passed away.

My mother was diagnosed with bipolar 1 thirty yrs ago. At the time

my brother was diagnosed, my mother was tested and was shown to have

4% in blood, 5% in mouth. Approx 1 1/2 yrs ago, my mother was

hospitalized with a stroke-like episode. The residual effects of the

episode has been reduced mental capacity. One week ago she was

hospitalized with cong heart failure and dilated cardiomyopathy. Her

ejection fratcure is only 10%. She had a defibrillator put in last

week. Though she is only 65, she is now in assisted living because

she is no longer able to take care of herself. My dad passed away

last March after a long, courageous fight with kidney cancer, and she

having to deal with that grief as well. As you can imagine, her

bipolar is not stable either.

That leaves the last 4 children (Angie 8, Shelly, 7, and twins Becky

& Bobby 5) My parents adopted these children as well because the

same sister is not able to take care of them because she is bipolar

1, uncontrolled/not medicated. Due to the loss of my Dad, and my

mom's problems my husband & I have taken them in, and will become

their legal guardians. Angie was tested at 2yo with 66% in her

blood. She actually started manifesting at 6months with low muscle

development. She has since progressed with low energy, bad appetite,

and small stature, and sensoroneural hearing loss. Shelly was

tested @ 1yo with 57% in her blood. Her problems are minor

gastrointestinal problems, short stature, and bad appetite. The

twins, Beccky and Bobby were tested at birth with 65% in their

blood. Becky was considerably smaller than Bobby, and still is

today. They were late in development - walking & talking. Becky has

low muscle development. Their motor & speech skills are normal

today.

That leaves me! I am 32yo & suffer from bipolar II and migraines.

My son, (5yo) has low muscle development and is extremely

skinny. He's tall though and has lots of energy. My daughter,

Caitlin (7yo) is very normal. I got both my son & I tested. We

tested at 0%, but our geneticist explained that with my symptoms we

are not out of the woods yet because the cells can divide so fast in

the blood that it can look low or 0 when it might not be so. Again ,

my mother tested @ 4% @ 60yo. Right now, though, with everyone else

being sick, I can't worry about me right now.

Other family members who have symptoms, but haven't been tested are:

My other sister's daughter (21yo) - bipolar; my other brother's son

(21yo) - bipolar; cousin - short stature, bipolar and cardiomyopathy.

We reside in The Woodlands, Texas (a suburb north of Houston), and

our geneticist is at the Baylor College of Medicine - Dr.

Scaglia. If anyone would like to email me with questions privately my

email address is carolinepointer@.... Sorry this was a long post.

Caroline