Saturday, November 16, 2013

This is a journey

Lately I've been wondering why a diagnosis takes so long. We know there is a problem, we know what the symptoms are, and we are seeing the right specialist. I've come to realized that this is not an instant process, but a journey.

I've been trying to find information about less severe combined immune deficiencies. Go ahead and google it, there isn't much out there. In severe combined immune deficiency (SCID) there is usually a complete lack of t-cells, and sometimes a very low level of t-cells. Fiona's t-cell levels are low, but not low enough.

She may still be diagnosed with a type of SCID called leaky SCID. Leaky SCID is usually caused by a partial mutation in a SCID gene. It doesn't manifest as complete lack of t-cells. Children with leaky SCID usually manifest later. I think this is what she has.

Our next appointment in Cincinnati is on Wednesday. They will be doing lots of testing at this appointment including genetic testing for the genes that cause SCID. If she is found to have leaky SCID they will do a bone marrow transplant.

Sometimes I get frustrated waiting for the doctors to make what I think is the next logical step in the process. At each appointment we see her lymphocytes and neutrophils go down. The doctors keep telling us that a CBC (Complete Blood Count) is just a snapshot in time, that if we took them even a few minutes later we would get a different result. It seems irrational to me to dismiss her labs so easily, but I'm a mom, not a doctor.

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