Thursday, September 26, 2013

Specialists are special

You never know what would expect when you meet with a doctor for the first time. Will they have great bedside manner, or act like a dead fish? Will they have amazing nurses and a great staff, or will they forget about you the minute you walk out the door? We have been spoiled by our pediatrician and the staff at her office. They are amazing.

Sometimes specialists are hard to reach. They don't return calls quickly. They have staff that can give you a generic answer. If you push for a better answer they say wait until your next appointment, which is usually two weeks away. They tend to drop bad news and run, leaving you to stew about it for weeks.

Sometimes scheduling a treatment is impossible, until they decide that it's an emergency, then it's scheduled for the next morning. When the next morning you might ask? They don't know. The hospital usually calls the next morning with a time.

We expected Fiona to start her new treatment this week. Our health insurance has approved it. The supply company has contacted us. We are waiting, as usual, on our specialist. I plan on calling his office today, but I feel like I already know what the nurse will say. We have an appointment next Thursday.

I feel a sense of urgency about getting this treatment started. Fiona's IGG is being metabolized and falling every day. Her IGG post treatment upper level will be lower with every day we wait. Maybe this time they'll surprise us.

Tuesday, September 24, 2013

The elephant in the room

I think about the possibility of a bone marrow transplant often. It would be a cure. No more IV treatments, and no sub-q. It sounds good to me. The doctor's have told us that her numbers aren't low enough yet. Her T cells are low, but she has good function. They are still watching her numbers.

What doesn't sound good to me is how much we would make Fiona suffer. Our family would suffer too. We've been told that she would be in the hospital for a few months, then outpatient for a few more. We've read the information they gave us. Life during and after the transplant would be difficult. The rules are crazy and complicated.

It's hard to know that there's a cure, but she has to get worse to be cured.

Tender mercies

Last night the medical supply company that will handle Fiona's treatment supplies and send the training nurse to us called. The rep assigned to us introduced herself and told me about her son. He had a bone marrow transplant for a severe combined immune deficiency when he was 5 months old. He's a freshman in college now. She was a great source of information. She gave me her cell phone number so I could call if I ever had questions or needed to talk. It was amazing to me that someone who has been through what we're going through was assigned to us. I can learn a lot about Fiona's condition, treatment, prognosis, etc, but I need to know about the experience, from a real person, who can understand where I am. She's been where I am.

Today I watched the video about Fiona's new treatment. I know I can do this, and I felt prepared to do it until I realized that every week I have to stick two needles into my baby. It was easy to hold her hand and comfort her while someone else was the mean person hurting her. Now I have to be that person. Ouch!

Here's a link to the super boring video about at home treatment.

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.

Thursday, September 19, 2013

Her last appointment

For a few months people have been asking how Fiona is doing. We have been talking about starting a blog to keep everyone updated, and to help explain what this means.

Fiona has a combined immune deficiency. Her B cells and her T cells are defective. Her defective B cells cause her immunoglobulins to be low. Her immunoglobulin G (igg) is very low. The fix for low igg is replacement via IV(IVIG) or subcutaneous(sub-q ig). Over the past two months she's had three IVIG treatments. Next week she will start sub-q ig. The fix for her T cells isn't as simple. The only fix is a bone marrow transplant. Her numbers aren't low enough to justify the risk, so they are monitoring them for a few months to see what happens.

At her appointment in Cincinnati yesterday she had IVIG. They doubled her dose because her igg was dropping too low between treatments. They didn't give us much new information. We did find out that her low T cell count is not a result of viral suppression. That sounds like good news, but it's not. It means that the problem with her T cells won't go away on its own.

At our next appointment here she will have her first sub-q ig. After that we will do sub-q at home once a week. The advantage of sub-q is that her igg levels will be more consistent.

We've had a few people ask what they can do to help. Fiona's treatment is derived from plasma donations. If you have time, please go donate plasma.