Diagnosis-Unknown (she has a primary combined immune deficiency)
Fiona had pneumonia when she was 3 weeks old. She’s had multiple sinus and upper respiratory infections. From September of 2012 to May of 2013 she had what seemed like a non-stop cold. She’s had an intestinal virus for almost 5 months now. She’s frequently fatigued. One of the side effects of her medicine is aseptic meningitis. She has low protein and albumin levels. She always has dark circles under her eyes. Her immunoglobulins and all of her t-cell lines are low. She has intermittent neutropenia. Her belly has been distended since she was a week old. She has frequent bouts of diarrhea. When she gets infections she never gets just one, she gets two or three at a time.
As an infant she was tested for Hirschprungs. She’s had swallow studies, upper and lower GI with contrast, a colonoscopy, and a chest, abdomen, and pelvis MRI. Currently they run stool samples every 2 or 3 months to check for intestinal and blood based viruses. We check immunoglobulins, lymphocyte counts, cbc,, ebv, cmv, adenovirus, and antigen and mitogen stimulation on a frequent basis. We’ve tested for all known forms of SCID, DiGeorge, VCF, STK4, TREC, FoxP3 expression, complements, C3, C4, A1 antitrypsin, SNP microarray, Blood Chromosomes, TCR V Beta, PSTAT 5, MCH Class I/II, Fanconi Breakage, CD 40, CHD 7, and a multitude of viruses and parasites. They’ve ruled out all known immune deficiencies. At this point the only tests left are exome sequencing and full genetic sequencing. She gets a weekly treatment of subcutaneous IGG, and takes Bactrim 3 days a week.
Fiona is currently on IGG therapy, and bactrim to prevent opportunistic infections. She needs to have a thymus biopsy, and full genetic testing to tell us where her immune deficiency originates. If we can show that her immune deficiency is based in her bone marrow, they will give her a bone marrow transplant, which is considered a cure. She has 2 HLA matched siblings who could donate. If her immune deficiency is based in her thymus, she could have a thymus transplant. More research needs to be done to identify the genetic cause of her immune deficiency.
The biggest day to day struggle is exposure. Any time we walk out the door we could pick up viruses or bacteria that could be life threatening to Fiona. We avoid crowds and wash our hands often. She can’t attend church in the winter, and our doctors don’t want her exposed to other young children, so no nursery, or primary at church. She can attend during the summer, but not during cold season. When we go to church she and I stay in the foyer. We would like to find the cause of Fiona’s immune deficiency. We would like for her to have a bone marrow transplant in the next year. It would be a relief to send her to kindergarten with a functional immune system. We are constantly worried about illness, money to pay for her treatments, and finding a cause for her deficiency. Her condition has taken a toll on our entire family. Treatments are difficult and have side effects. We feel like we have to limit the activities of our 5 other children to keep Fiona safe.
Last year our insurance company forced us to change our specialty pharmacy. The change delayed Fiona’s weekly treatment by days, and caused us a lot of stress. We have a high deductible insurance plan. At the beginning of the year we have to pay $5,000 deductible before our insurance company pays anything. After we reach the deductible we pay 20% until we reach the out of pocket of $8,000. The new specialty pharmacy didn’t offer payment plans, and wouldn’t ship more medicine until we paid for the first month. We had to come up with $2,700 in February to continue treatment. We are currently trying to find out if our insurance company will cover exome sequencing.
Hand washing and vaccination are the most important things for Fiona’s safety. She isn’t aware of germs, so she doesn’t think twice about touching someone else then putting her hands near her face. She doesn’t make immunities to the vaccines she gets so it’s important that everyone around her is vaccinated.
Fiona loves animals. She wants to be an animal rescuer like Diego. She loves going to the zoo. She loves to be outside and play. She hates having blood drawn, but she is so brave about it. She loves having her picture taken. She loves medical supplies, and thinks they are toys. When she was born 5 weeks early my husband said, “She’s a fighter.” He was right. When she was a baby we called her muffin. She now calls her daddy muffin. She brings so much joy to our family.