In January 2016, my 9 year-old daughter Emma turned yellow. After seeing her regular doctor, we were sent straight to the hospital. They found that her liver enzymes were extremely elevated and sent us to a second hospital. After extensive blood panels and scans, they still couldn’t determine the cause of Emma’s liver inflammation, and so the process to find her a new liver began.
We returned home because of signs that Emma was doing better, but we had to follow a very stringent regimen that included frequent blood tests, scans and doctor visits to monitor her progress. By the middle of February, despite improving test results, I instinctively felt my daughter was not improving. After a brief online search of her symptoms and coming up with blood cancer, I asked the hard question: Was Emma screened for cancer?
At the start of March 2016, we met with a pediatric oncologist. The night before her appointment, I noticed extensive bruising on her right leg. It had been explained that bruising could result from liver enzyme problems, however those tests were getting better so I didn’t know what to make of this.
Emma was checked and cleared on a number of possible issues but another blood panel was needed. This panel showed her levels had dropped dramatically. Initial thoughts were idiopathic thrombocytopenic purpura (ITP), which meant her body was using platelets faster than it was making them. So no liver transplant occurred, but Emma was pulled from school and bone marrow tests were recommended. After another panel’s results showed her platelets had now reached a critical level, a transfusion became necessary to even complete the recommended tests.
That evening Emma was diagnosed with aplastic anemia, and I began my research which led me to finding the AAMDSIF’s website with information about treatments, clinical trials, and YouTube interviews with experts.
By late March 2016, we had clinic appointments twice a week at the only major hospital in our area, which was over an hour away. I knew we needed to act, but all the advice I was getting at this hospital was to watch and wait. So I searched Facebook groups, explaining to the first group that accepted me that I hoped to find other moms. I was overwhelmed by the response.
The first comment on my post was from the group's leader. She asked tough questions, "Do you really want an inexperienced doctor treating Emma or a doctor that sees it daily?" She gave me the contact information for NIH, and I quickly had her records sent to them. I was soon told that we needed to bring Emma to NIH right so she could be stabilized and begin her life-saving treatments. I immediately booked a hotel room and left for Maryland. She was admitted the following morning.
The highly-skilled team confirmed Emma's borderline liver failure was the cause of bone marrow failure, and from their perspective she had one of the rarest forms.
Emma was to start the h-ATG on Friday but when she woke up she complained she couldn't see. It was found that she had a rare complication of aplastic anemia where her optic nerve swelled causing behind her eye to bleed thus affecting her vision. She was closely monitored during initial treatments until her vision was completely restored and the bleeding stopped.
Several days later, Emma woke me complaining of chest pain. After more tests, it was explained she had developed symptoms of serum sickness. The cartilage between her rib cage and sternum was inflamed, requiring a longer inpatient stay for her.
Emma was eventually discharged, but quickly readmitted due to a fever and low counts. At this point, they began evaluating her for a stem cell transplant. On June 2nd, her birthday, Emma was designated a partial responder to the h-ATG treatment – no longer transfusion dependent.
When she returned to NIH for a 6-month checkup, he doctor made certain changes in her treatments. Two months later, we received the call that her levels were falling again and a dose change was needed. The NIH team thought her liver was making her aplastic anemia more difficult to treat. The subsequent increase in her dosage has helped to restore her levels to a safer point.
Emma is currently back at school. Her blood counts are below normal, and she is having some problems with side effects, but she is still free of transfusions! Her blood counts are still closely monitored, but the plans for a transplant are on hold. We are very fortunate to have found AAMDSIF and its valuable information early on in Emma’s fight.
My advice to parents is to keep good records, especially important when moving your loved one to a new treatment center. One of the first things they want to know is what tests have already been done. Find an experienced doctor at a treatment center that specializes in bone marrow failure disease. Also, even if patients stabilize, like Emma has, try to keep up with advances in the field. One way to do that is to make the most of what AAMSDIF has to offer families.