29/02/2024
Today is Rare Disease Awareness day. To those with rare diseases- you matter. You are important. To those parents advocating for answers- be persistent. You are not crazy (though I know I felt it often!) It is an exhausting and emotional fight, but YOU/YOUR CHILD matter. Find a community, friends, and family to support you. I hope one day we have answers for all of you and that you can find inner peace.
Rare touched our lives just a few months after my son was born. I reflect back to a time when I had a pit of fear and unknown that was constant and at times consumed me. Here is Everett’s story:
June 2015 Everett had been sick with a very strange pattern for 10 days at 4 months old. Our primary doc was nothing short of amazing. He believed me about night fevers when I brought him a content, sleepy, fever free baby during the day. After 10 days of fevers, he ran blood work.
We found out Everett had a neutrophil count of 0. An entire type of white blood cell was missing. White blood cells fight infections in our bodies and neutrophils make up 40-60% of them. It was the scariest day I can remember as a parent. Our amazing doc called his friend who was a pediatric hematologist in Savannah and got us in to see him within a couple days. Everett got a diagnosis that day of Neutropenia. Our hematologist in Savannah was supportive and empathetic, but couldn’t answer our questions of how will Everett be in 2, 5, 10 years. We didn’t know if it was from the Ebstein Barr Virus that we found out was causing the weird night fevers or if it was from something else. What we did know is that we had to take some very large precautions to keep Everett in minimal contact with germs. This meant Everett didn’t come on shopping trips to the grocery store or similar places. I showered immediately upon coming home from work. The bigger change to our family rhythm was both kids would no longer be able to go to daycare. In one week, we thankfully had an amazing nanny come to our home who will forever hold a special place in my heart. She loved on my kids like they were her own.
Monthly blood draws for a year turned to, blood draws bi monthly for a several years, then to blood draws 2x per year for a few more years until 2022 when we now only do blood draws yearly.
No one can be an expert at everything when it comes to rare diseases. You can give your doctor some grace for not identifying something right away or when they have never heard of the diagnosis. But, when things don’t add up, answers don’t seem clear follow your parental gut. Keep looking for answers. After seeing 4 hematologist along our journey, it was clear to me if we were going to get answers, we would need to see a specialist in not just Hematology, but in neutropenia. In the world of Nuetropenia..... there are not many. However, divine intervention helped us find one of them in New Jersey, in network, and just a few short months before she retired. She wrote much of the research on Neutropenia.
It took 5 hematologist- but we finally got answers to our questions, to know how to advocate for Everett, and to know what we need to be monitoring.
Getting the diagnosis is by no means the end of the journey. Everett continues to be amazing! We take general precautions to keep him healthy, but his body’s super power is keeping him healthy with half as many neutrophils as what is “normal.” We have been lucky that his body has been able to adapt (how is still a mystery) and his symptoms have been so mild compared to others with this diagnosis.
Everett is no longer considered neutropenic, but should he ever get severely ill neutropenia and infections associated with it will be strongly considered and tested.
