Genetic Disorders Forum - Please Help My 13 Yo Daughter

My 13 yo daughter was recently diagnosed with pectus carinatum. I was rapid and progressive. My son was diagnosed in november 2006 with the same thing. No doctor believed it was not there even one month prior to finding it. He did not have a growth spurt and was seen on 8/22/06 by a cardiologist and had an echocardiogram. His report said normal chest wall. My daughter was checked by a specialist on 12/4/06 when my son was checked and treated with a brace.....She was fine. She was checked again on 3/4/07, and she was fine. On 4/1/07, I saw that her shoulders were uneven and I checked her. Her sternum was protruding. I begged for a vitamin d level, and it came back very low. She drinks lots of milk, and was taking cod liver oil at least every other day prior to the blood draw.

Okay, so we get her a brace, and she is doing okay. But even before this she was tired all the time. Around the same time she had a fever for a few days, aches, and tired. I remember that her eyes would also swell and itch so much so that I was afraid she was allergic to the cod liver oil. I stopped it, but it continued. It last for about two weeks, and is now gone. She takes the same cod liver oil now without any symptoms of allergy. She also had horrible chapped lips, but no rash that we know of.

She remains fatigued, and after a lab draw for ebv she started to complain that her right arm was tingling in the hand. She thought the it was changing colors, but I didn't see it. The next day she showed me her hands, and her right hand was dark red with purple tones. I could feel her radial pulse, and it cleared quickly back to normal color if she held her hand up. We wen to the er, and they did venous and arterial ultrasounds and flow studies. All normal> in fact, they even tried to do it with her hands dependant....They turned but the flow was normal.

We went home and saw our family doc then an appt with a vascular doc yesterday. He sent her for esr and creactive protein. They drew the blood in the left arm, and before we were out of the hospital, her left hand was purple blue and cold. It had not done that before the blood draw. We went back to the vascular doc in the same office, and showed him. We were concerned about thoracic outlet syndrome due to the brace (which she has not worn in almost two weeks that this has been going on), and also kawasaki's disease. They did a stat mri/mra of her thoracic area. Vasc doc called me tonight to say it looked normal, and no signs of thoracic outlet. Esr and creactive all normal.

Okay, I am at a loss. She is so tired......And I mean dramatically tired. She was exhausted when we got home yesterday. She has slept all day. Her ebv labs were negative.

Her hands do not turn colors under cold water......Only when dependant.

Her lymphocytes were elevated.

I am thinking about taking her to a children's hospital er. I fear that something is really wrong.

My family doc didn't even bother to return my call when I called tonight.

Am I over-reacting?????? Should I take her? I have waited for appt for vascular doc for over a week....Now two weeks have gone by and she seems worse.

Vasc doc was nice and caring.....He suggested a rheumatologist, but he had no idea what was wrong.

Should I wait it out for an appt with a rheumatologist, or take her to the er?

I hate it when people make you feel like an over-reactive mother, but this is so not normal.

Thank you for helping me.