Hi, I'm new here. I am posting this here and on every other undiagnosed health forum I can find. If you have a recommendation for a forum, please send it to me.

My sister's son has been suffering since birth, and he has yet to be diagnosed. She is so emotional at this point that she cannot even bring herself to search the forums, let alone become actively involved with them. So I have stepped in to help her with this part of the puzzle.

Frank is about 22 months old now, 19 pounds. He is not walking or talking. They have been doing test after test for almost two years now and no one can come up with anything at all. The doctors are calling him the "mystery baby". My sister is changing to UCLA doctors in the next couple of weeks out of frustration and hope that more educated minds will be able to help.

Here are his details:
22 months
19 pounds
no walking
no talking
eats 1300 calories per day
normal stools and urine
generally happy baby
rarely cries (though this may be due to lack of energy)

He has been tested for and found negative for:
all chromosomes
micro array of chromosomes
malabsorption of nutrients in stomach
celiacs disease
cystic fibrosis
SLO
seen by a geneticist, all measurements normal, just too small
no retardation, considered to be smart
hypotonia

Several months ago he was tested and found that the white matter in his brain was abnormal, a thin myelin sheath, and a small brain. They are waiting until NOVEMBER to retest, but things are not improving. Much of the progress he had made over the past year has been vanishing.

Goes to speech and motor therapy 4 hours per week.

If you have any ideas or questions, could you please post them here? I am starting down the long road of trying to help my sister brainstorm about rare diseases he may be tested for. The more minds the better.