Friday, September 20, 2013

She's a unicorn!

Fiona's condition is a primary immune deficiency. That just means that she was born with it. Most kids are diagnosed in the first three months after they are born because they get really sick. There is a common phrase among doctors, "don't look for zebras, look for horses." It means that instead of looking for uncommon illnesses look for common illnesses because they are more likely. We've decided that Fiona is a unicorn. She should be really, really sick. She should have been in the hospital with life threatening illnesses. She shouldn't be growing well. She isn't like most kids.

Finding her condition was tricky. At her 12 month checkup they did a CBC (complete blood count). Her white blood cells were low. That should have  been a red flag, except she had a sinus infection. Infections suppress white blood cells. Our pediatrician suggested that we repeat the test in a few months. Unfortunately that was the beginning of the winter long cold, so she never had a second test.

In May as I was packing for our vacation she got a fever. It came on high and fast, so I knew it was a virus. We left the next day thinking that she would be better by the time we got to Utah. That was the beginning of a 15 day fever. After a week we went to an urgent care clinic. The doctor spent two minutes in the exam room, declared it a virus and left. Three days later we tried another urgent care. Again we were told it was a virus. The next day we went to the emergency room. They gave her some juice because she was dehydrated and sent us home. I called our pediatrician's office and talked to the doctor on call. He thought she was dehydrated and needed an IV. I took her to primary children's where she got an IV. They did a test for viral infections and sent us to an infectious disease specialist. The test showed that Fiona had three viruses. The doctor said that was unusual, but that it happens. He gave her an antibiotic and said she was fine. He told me that he was giving us one of the happiest diagnoses that he could give.

We came home, and the fever was gone. I mentioned something on facebook and my aunt suggested having her immunoglobulins checked. When our pediatrician told us that all of her immunoglobulins were low I was surprised. We saw another infectious disease specialist here a few weeks later. He told us that she had hypogammaglobulinemia. He said it was very serious and that her IGG was very low. He said any illness could be life threatening. He said to be prepared for a $60,000 a year treatment. Then they did some blood tests and scheduled her for another appointment in two weeks. I called my husband and told him it was bad.

For two weeks I cried. We were devastated. Our baby was sick. She was going to need an IV monthly for the rest of her life! We had so many questions. We wanted to put her in a bubble, and so did our pediatrician (have I mentioned that we love her?). Our next appointment brought us some answers. Her condition was worse than we thought.

Future blood test would show that she had low T cells, low NK cells, and low B cells. We were sent to Cincinnati for more testing and a bone marrow transplant evaluation. When her first labs came back there were so many low numbers. I spent two weeks learning what they all meant.

This all seems like a blur now. IVIG has helped a lot. I have a cold, but for the first time ever Fiona didn't get it. We are still trying to figure it all out.

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