Cincinnati Tuesday

Cincinnati called again today. This time it was to let us know that Fiona will be having sedation for her CT scan. Because she's a wiggly toddler who won't like being taken away from her parents and put into a loud machine they've decided to let her sleep through it. I think that's a good choice.

The day before we go to Cincinnati we see our doctor here. I'm going to ask him to draw some labs to see what her igg level is. I think she's metabolizing it more quickly than they expect her to. Hopefully I'm wrong. If I'm right they will increase her dose again. Increasing her dose means that we will have to do longer infusions or get two pumps or get a new pump that can hold a bigger syringe.

Being thankful

Sometimes it's hard to be thankful for trials. I'm trying to focus on the blessings we've been given during the trials. Here is part of my list.

• We know about Fiona's illness. 
• We have great doctors who are working to get her the best treatment.
• We have health insurance.
• We don't have to drive our old scary minivan to Cincinnati.
• We have great and supportive family and friends.
• We have 2 full sibling matches for bone marrow.
• In spite of her low counts she isn't getting sick.
• There are lots of people who love Fiona.
• We know what her future treatment will be, and we've had time to process.

 Fiona's fundraiser

infusion changes

We had to switch to Tuesday for her infusion this week. Our supplier thought she was still on Thursday and couldn't get her medicine in time for Monday. We also increased her dose and added a third site. I think the third site will be an improvement. Her sites aren't as swollen. She's complaining about her sites because I was in a hurry to get started and her numbing cream didn't have enough time. Next time I'll wait longer.

We see our home specialist on Monday. I'm hoping that he will check her igg. Based on her last labs l'm a little worried that we may have to increase her dose again.

I've been reading about immune deficiencies over the past few weeks. Waiting for labs to come back is anxiety causing. The genetic tests are especially hard to wait for. I want to know what is causing her deficiency, and I want her to have the best treatment for her condition.

Fiona's fundraiser

The day that everything changed

I was just sorting through pictures and found this....

I forgot that I took pictures that day, mostly to show Christian how pitiful she was. The yellow wrap is covering an IV. She was going on day 15 of a fever. She was dehydrated and wouldn't drink or eat anything. They had just drawn labs. A few minutes after I took this picture they did the nasal swab that showed she had 3 viruses. We wouldn't find out for a few months how severely compromised her immune system was.

When I see this picture all of my what if questions start. What if she hadn't gotten sick? What if I didn't take her to Primary Children's Hospital? What if my aunt hadn't suggested the test? What if we didn't catch it in time? It also takes me back to an appointment in July when our infectious disease specialist told us that her condition was life threatening.

As a parent I am living my worst nightmare. The funny thing is I think this is normal now. It's when I stop and think about it that I realize that this is not normal! The not normal feeling hits at weird and inconvenient times. I remember almost breaking out in tears at a grocery store checkout. I walked out quickly and crying in the car. This picture brings it all back.

Fiona's fundraiser

lab results

Cincinnati sent us Fiona's labs. All of her t-cells dropped again. I'm reading medical research papers to try and guess what she has. Crazy, right?

What keeps me from worrying too much is monitoring her condition is learning about it. I've started reading an immunobiology textbook. It's a slow read. I feel like it's my responsibility to know and understand what is happening in her body. When her labs looked better I stopped memorized her numbers. Now I can recall specific t-cell counts and most of her cbc (complete blood count).

The supplier for Fiona's medicine called on Thursday. Our rep forgot that we changed treatment day to Monday. She can't get her medicine here until Tuesday. We're going to keep her at home until she has her next treatment. Exposure is too risky, because her igg is probably less than 500. 500 is the lowest the doctors want to see her igg.

Thank you to our wonderful friends who have donated so far. We are really thankful for you and your support.

Fiona's fundraiser

Another call from Cincinnati

They are calling more than I like lately. Fiona's helper t-cells are down to 136. A normal range would be 500-2400. The only difference between her and someone with AIDS is that her condition isn't caused by a virus. It's caused by a defective immune system. Her white cells are up, which could signal an infection. She's starting her preventative antibiotic tonight, which will lower her neutrophils again. She's also metabolizing her IGG faster. I'm glad they increased her dose.

Increased treatment

Fiona's doctors took her off the preventative antibiotic to get her neutrophil count back up. To give her some added protection against opportunistic infections they raised her dose of hizentra. I talked to her rep about her reaction to the treatment and I've decided to use three sites instead of two for her infusion. I think this will be much better for her.

Yesterday she spent a lot of time resting. She seems to be feeling better. With cold and flu season starting I've noticed that she starts to get a runny nose, but it goes away instead of getting worse. I'm amazed at the difference her infusions make in her ability to fight illness.

Fiona's t-cell counts are worse than someone who has AIDS. In addition to her low t-cell counts she also has low b cell counts, and her b cells aren't maturing properly. How bad is all of this? Her condition is life threatening. Our pediatrician told me that I must be doing something right in my life for Fiona not to be extremely sick.

Where does this leave us? First, hizentra is a life saving drug for her. Without it she would have almost no protection from illness. Second, diagnosis will be critical for her future treatments. Right now she is getting weekly infusions, but it would be incredibly helpful to know what is causing her problems. Third, what we will have to pay for her treatments, doctor's appointments, and travel in the first three months of next year is more than 15% of our yearly income.

We are incredibly grateful to everyone who has made a donation so far. Please donate if you can, and share the link with anyone you think can help us. Thanks for reading!

http://www.youcaring.com/medical-fundraiser/she-s-a-fighter-/102797

Yesterday

Yesterday was long. We left our house at 9:30 am and got home a little after 10 pm. We spent 7 hours in the Hematology clinic. James and Fiona were so good and patient the whole time. I learned a lot about the direction of her diagnosis and treatment.

In the next month and a half they will be running a lot of tests. First, a genetic test for severe combined immune deficiency (SCID). This test will take 2-4 months to complete. Second they are checking t-cell function again because of her low t-cell counts. Third they will do a head, chest, and pelvic CT scan to check for autoimmune problems and possible infections that don't manifest outwardly. Depending on the results of the CT scan she may need a PET scan to look at specific areas in more detail. Fourth, she will have bronchial and stomach endoscopes to check for infection and autoimmune problems.

It's possible that she may have leaky SCID, she also may have hypomorphic SCID. If you think of SCID as a spectrum, regular SCID is what the bubble boy had, leaky SCID is less severe, and hypomorphic SCID is the least severe. If she is found to have a variation of SCID they will most likely do a bone marrow transplant. If she has hypomorphic SCID the will watch her to see if her t-cell counts and function continue to decrease. Yesterday I learned that t-cell counts decrease as you age, so a low count in a child is more significant than the same count in an adult.

They are also checking for autoimmune responses. An autoimmune response is when your antibodies start attacking your body. They are looking specifically at organ damage. If her body is attacking her organs they will do a bone marrow transplant.

The last thing that they are checking for is lymphocytic gastritis. That's a medical term for losing lymphocites and protein in the gut. Some of her labs suggest that this is a possibility, but some of them rule it out as a possibility. In an effort to make sure we check everything they are still running the tests for this. If this is what she has the treatment is continued IGG infusions.

After our discussion of tests and possible treatment options the doctor ordered labs. They needed 19 mls of blood drawn. For a small child that's a lot of blood. It took 4 sticks to get a good vein. It was horrible! Sometimes she's an easy stick, but if she's not, she's really not. From now on we will ask for the IV team every time.

Once our appointment was over we left the hospital, drove for about half an hour and decided that we should feed the kids. I didn't plan on her appointment going as long as it did, so I didn't bring dinner. We stopped at Cracker Barrel, James' favorite restaurant (he calls it dunkin' barrels). Just after we ordered our food Fiona got sick, all over both of us. I rushed her out to the car, cleaned us up, and waited for Christian and James to finish eating. Christian brought out our food, which we are eating for breakfast.

Because we are pretty new to the immune deficiency thing every illness triggers a call to the doctor. When I called last night the doctor was very thorough, and decided that it was probably a combination of a long day and a stressful blood draw.

Cincinnati called back morning to let us know that her white blood cells just over 10 (the highest we've ever seen them), which sounds great, but it could also signal an infection. Her lymphocytes are a little lower than last week, she's dropped from 2.09 in August to 1.2 yesterday.

Today we are exhausted, and glad to have a day at home to recover from the craziness of yesterday.

Long day

It was a long day in the Hematology clinic today. We were there for 7 hours. When we left we stopped to get some dinner and Fiona threw up. I'll write more about it tomorrow. The clinic visit, not the puke.

Day after pictures

After yesterday's pictures I want to show you what the day after looks like. I usually give her benadryl for a day or two after treatment, I think it makes her more comfortable. It's amazing how fast her body absorbs the infusion. She still has a rash, but it looks so much better. The rash should be gone by tomorrow.

The swelling is gone.

Treatment photos

 Today I wanted everyone to be able to see what her treatment looks like. It's so much better than the IV treatment. Next week they are adding 5 mls to her dose. This is the last increase before they have to switch her pump. Each infusion takes about an hour, and we do this once a week. She is getting used to it. She is really good about letting me put the needles in, and about not touching the pump or the tape. In the beginning it took two people to get the treatments started. Now I do them by myself.

This is how I apply her numbing cream. She doesn't like the way this feels. I'm not sure if it's the clear bandage or the cream. The cream stays on for at least half an hour. It usually ends up leaking at least a little bit.

While the numbing cream is working I gather all of the supplies. We also have a sharps container, but I don't keep it in the box anymore, it takes up too much room. Because she's two she loves to try to take some of the stuff when I'm busy with other things. She especially loves the little glass bottles.

These are the needles and tubing. The plastic pieces that are shaped like a butterfly are what I hold to insert the needles. We just switched to 6mm needles because the 4mm needles were leaking. I'm experimenting with different kinds of tape to hold the needles in place. I prefer the clear plastic because I can watch her reaction, but paper tape is easier on her skin.

This is her during treatment. The strap around her neck is hooked to her pump (inside the grey bag) and the thing she is holding is the tubing. I roll it up and tape it to keep it out of her way when she moves around. This is the easy part. About half an hour into the infusion I think she starts to feel the pressure of the liquid, and she gets pretty fussy.

This is a few minutes after treatment. I don't think the picture really captures it well. It's raised a little more than a quarter of an inch. I give her benadryl after her treatment and the swelling is gone in about 4 hours as her body absorbs the medicine. It's the equivilent to getting a shot, but instead of using a little bit of liquid each site gets 7.5 mls. That's a teaspoon and a half. Next week it goes up to 10 mls per site. If her reaction is bad they may let us use 4 sites.

Fundraiser

We are trying to raise $8,000 to pay for Fiona's treatments and travel to appointments for next year. That's 8 months of mortgage payments for us. Our insurance doesn't cover anything until we pay our $6,000 deductible. After that it's 80/20 until we pay another $2,000. Hizentra is in a specialty drug tier, so instead of paying 20% of the cost we pay 40% until we reach our out of pocket. Because of the cost of her treatment we know that we will reach our deductible in the first 3 months of next year.

Our sweet girls are trying to come up with ways to earn money to help pay for treatments. They are amazing! Katherine is going to do photography sessions. Abbie is trying to come up with some art projects. Savannah and Ellen will be making crafts. In the next few weeks they will be starting an Etsy shop. I'll post the link when it's up.

Here's the link to the fundraiser. She's a fighter

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.

She's two!

According to our doctor's Fiona is a miracle. We knew that before she was born. She overcame so many challenges to get here. We are blessed to have her. She is sweet, funny, loving  and spunky.

Good news, I think

Fiona's neutrophils came up to 1.9, normal range is above 1.5. I'm not sure, but I think that's good news.  Sometimes it's hard to know how much a change in numbers really means. Her lymphocytes are still 1.3, normal range is above 4. The doctor said we won't isolate her unless she gets below .5. Her lymphocytes are trending downwards.

We probably won't be taking her out much because of cold and flu season. Cincinnati has decided to increase her dose of hizentra. She hasn't been having fevers since we stopped her antibiotic, but she is getting a runny nose. She's also waking up a lot at night.

Patience is a virtue?

I impatiently waited all day to find out about Fiona's test results, but they never called or emailed them to me. It's such a routine test, but for us it means so much more. I feel like our future hinges on the results.

This life is starting to feel normal now. Waiting and worrying are normal. Treatments are normal. Stress and anxiety are normal. Putting all of my trust in Heavenly Father is normal. I have to believe that this is happening for a reason. I have to believe that we can handle this.

I've started looking at the Ronald McDonald house website. I'm trying to prepare myself for the possibility of living in a hospital. I read that bone marrow transplant families stay with them for a minimum of 120 days. I'm still trying to figure out how that would possibly work.

more tests

Fiona had labs drawn today for a complete blood count (cbc) with diff. That test will show what her blood counts are, but most importantly it shows what her specific white blood cell counts are. We are most concerned with neutrophils and lymphocytes. Lymphocytes are t-cells, B cells, and natural killer cells. If her levels from last week are the same or lower she is more likely to develop infections. We should have results back tomorrow.

Another call

Cincinnati called again today. They want to do some labs here this week and see her next week. Looking at the big picture her neutrophil count is down, all of her T-cells are down and her B cells are down. They are starting to talk about the bone marrow transplant again. Next week they will be running genetic tests to check for SCID or other deficiencies. I think this is a positive step towards diagnosis.

We started a fundraiser to help pay for Fiona's medical treatment. Please feel free to share it. https://www.youcaring.com/medical-fundraiser/she-s-a-fighter-/102797

tape allergy

Remember the post where I wrote about Fiona's allergy to tape adhesive? I was wrong. She's allergic to the numbing cream. When I wiped it off her skin was red and swollen, but only where the cream was touching. I hope they can give us something else to numb her skin.

Low ANC

The specialist from Cincinnati called today. They NEVER call. NEVER. I thought he would want to talk about t-cells. Nope, he pointed out that her Absolute Neutrophil Count (ANC) was low. Really low. Normal ANC is above 1.5, Fiona's was always over 2. Wednesday's ANC was .99. The plan for now is to stop her preventative antibiotic, wait a few days and test again. If it goes up we switch her antibiotic. If it doesn't go up we test for autoimmune problems. If she gets a fever we go to the pediatrician, and possibly get IV antibiotics for a few days. We are starting to feel stressed again.

lab results

I've been putting off writing this post. All of Fiona's t-cell counts have gone down. Her helper t-cells are the lowest, down to 172 (normal range is between 900-5500). We probably won't know more until Monday. We are going to isolate her until we can talk to her doctor. Things were just starting to feel normal.

versaderm adhesive allergy fix

Versaderm is the name of the clear plastic we use to cover the numbing cream and keep the cream from rubbing off for an hour before infusions. Fiona is developing a reaction to the adhesive on the plastic. We've been trying to come up with something else that won't make her red and itchy. We may have found the solution! One of the nurses from Cincinnati suggested glad press and seal plastic wrap. It's been on for 10 minutes, so far it's working. It stuck to her skin without any additional tape. She doesn't really like it on her skin, and the cream has spread out a little more than with verasderm, but I think it will work. 

We are moving her infusion to Monday's next week. Someone suggested moving it a day each week, but our doctor said we can do her infusion today and again on Monday. 

where we are going...

Our appointment today was good, and long. The doctor explained a lot about the plan for reaching a diagnosis. Our first step is to check her t-cells again. If they've gone down we do some genetic testing for SCID. If she comes back positive for SCID we do a bone marrow transplant. Autoimmune responses, opportunistic infections, and slow growth are all possible reasons for a bone marrow transplant.

She got her flu shot, which she may or may not develop antibodies to. The hizentra we give her contains antibodies from thousands of donors, which give her some protection. Unfortunately it's not a long lasting protection. Her body metabolizes the antibodies in about three weeks.

Sometime before January she will have a series of scans to check her organs. She is at risk for organ damage from autoimmune responses.

The doctor mentioned that she may still outgrow her hypogammaglobulinemia (low igg). It's not likely, especially with a t-cell defect and an extremely low igg count, but is possible.

Sometimes it's overwhelming to try to process everything associated with her condition. I'm sure that I'll remember more tomorrow. We're all exhausted and ready to sleep.

Not sure where we go from here...

Today's visit with our local doctor left me wondering how are we moving forward? We know what the problems with her immune system are. We are addressing the problems with antibiotics and Hizentra, but we aren't looking for the cause. I have heard that it can take a long time to get to a diagnosis, but it feels like we aren't progressing toward anything.

Our specialists are disagreeing about whether or not she should have a flu shot. Cincinnati feels that she wouldn't make an antibody against the flu, so there is no point. Our local specialist feels that the worst thing that could happen is that she wouldn't produce an antibody against flu, but maybe she would develop a mild antibody, which is better than nothing. We go to Cincinnati on Wednesday, so we'll ask about it then.

We've been hearing about a new development from the manufacturer of Hizentra. In September they released a formula that would only need to be given every two weeks. They are really pushing this new dosage. I asked the doctor about it today. He said that until they could show that it would maintain a more consistent level he wasn't recommending it to his patients.

What I'm hoping for on Wednesday is that they will give her the flu shot if we suggest using it to test how well she makes an antibody. This would involve drawing blood before giving the shot, and again later to see if there is a change in antibody levels. I'm also hoping that they will check her helper t-cell level. The plan was to watch and see if her t-cell level went down, but they haven't checked it since August. I'm going to request that they do more of the genetic testing before January, while our insurance is paying 100%.

The day after

The day after Fiona's treatment is crazy. She has lots of energy to be naughty. So far today she has emptied my wallet, scattered the contents across the kitchen, hall and family room, squished blueberry pancakes into the carpet, dumped a glass of water on the carpet, unpacked a diaper bag, climbed onto the table, ripped apart a box of pumpkin bread mix, colored on the fridge, colored on the inside of a kitchen drawer, emptied the sock basket, dumped the toy basket, spit chewed up peas all over the floor, took out a strainer from the cupboard, put the strainer on her head, decided the strainer made a better step stool, and unrolled waxed paper on the kitchen floor.

She likes to rest on a pillow between adventures. Enventually she will exhaust herself and take a three hour nap. Even though we've seen an increase in activity she can't sustain her energy for more than 15 or 20 minutes at a time.

She isn't eating very much today, but I expect a demand for chocolate and chicken this afternoon. I'm thawing chicken for dinner, and our trick or treating was moved to tonight because of the storm yesterday, so she'll be happy.

Her pants and socks have mysteriously disappeared, and I have an hour to find them before we go pick James up from school.