Today, Wednesday, February 28, 2018 is Rare Disease Day so Derek and I thought today would be an appropriate time to share Zara’s diagnosis. A rare disease in the United States of America, according to the Rare Disease Day website, is defined as one that affects 200,000 people or less at any given time.
On December 7th, 2017 just seven days after Zara was born, both Derek and I received urgent voicemails from our pediatrician’s office. Our phones had been on silent. That was a Thursday. She had just had her newborn appointment a couple of days prior and was declared incredibly healthy. Neither of us could think of why the doctor was calling.
Derek was getting ready to head out with Shalom for their daily adventure and I was looking forward to sitting on the couch cuddling Zara and recovering from my c-section. So, we almost didn’t call back right away. Now that we’re fully adulting as parents, I called to be responsible and get whatever it was off my To Do list. I figured there was an insurance issue.
When we called, the medical assistant immediately asked me to hold for the pediatrician. My heart began beating rapidly once she got on the line and said that an abnormality had appeared on the newborn blood screen. The next few minutes were truly a blur. She asked if either Derek or I had sickle cell disease (SCD) or the trait. My heart sank. While neither of us has SCD Derek has the trait and I have beta thalassemia (beta thal) minor – both red blood cell (RBC) disorders.
The pediatrician didn’t know exactly what was seen on the newborn screening; however, the screening center requested that we provide more blood samples. We rushed to a nearby lab for a blood draw. This was a painful experience. The staff was awesome, but the amount of blood required was a lot to draw from a newborn. Zara was poked four different times over the course of the 90 minutes it took to get the amount needed.
Then came the two week waiting game.
At first I was hopeful that perhaps they had caught that she was a carrier of either sickle or beta thal but a call from the screening center a week later confirmed it was not a trait situation – there was clear RBC sickling. They did not have a confirmed diagnosis at that time but in that moment, I knew Zara had sickle beta thalassemia. It was the only outcome that was possible based on Derek and my genetics. SCD is a rare disease in itself affecting approximately 100,000 people in the Unites States and 1 out of 365 black births according to the CDC. Sickle beta thal is even more rare although I could not find the exact statistics. About two weeks later, that diagnosis was confirmed. We set an appointment with a pediatric hematology specialist for December 27th. It was only a week away, but it seemed like an eternity.
While we waited for the diagnosis and subsequent appointment, I was an emotional wreck. I searched Dr. Google trying to learn more and would end up in tears. I would look at Zara and end up in tears. I would talk to Derek and end up in tears. It’s amazing how quickly your thoughts of the future change. With just one phone call, I no longer saw a bright future for Zara and instead I saw the pain, frequent doctor appointments and hospital admissions. I also thought of Shalom and how her life would change with a sister having a chronic disease As the days wore on and I turned my grief and guilt to God, my outlook began to change. While there is no cure, I knew Derek and I would do the best we could to normalize her and Shalom’s life.
We were asked a couple of times; ‘did you go to genetic counseling?’ or ‘did you know this was a possibility?’ which only added to my feelings of guilt. Yes, we went to genetic counseling when I was pregnant with Shalom where we learned there was a 25% chance of our children having the sickle cell trait, a 25% chance having beta thalassemia, a 25% chance of having nothing and a 25% chance of having sickle beta thal. So yes, we knew of the possibility and still chose to have another child. I wouldn’t change that decision. Ever.
The day came for our appointment with the specialist. Derek and I were nervous but couldn’t wait to get answers. The appointment exceeded our expectations – compassionate and non-judgmental. The hematologist was awesome in ways I cannot express. One of the best medical interactions we have ever had.
I am grateful to share that sickle beta thal is the mildest form of the SCDs. Zara will likely never suffer pain episodes, and her growth and mental development will not be impaired to name some of the symptoms she will not experience. While there will be challenges (more susceptible to infections, for example), the hematologist reassured us that Zara’s quality of life would only be minimally impacted.
As you have seen from our pictures, Zara is thriving so we proceed down this new path cautiously optimistic.
Blessings,
Kareen