World Sickle Cell Day: Joshua's story

We received Joshua’s diagnosis as a result of his amniocentesis. I was so afraid not knowing what this would mean for my unborn child. I shared the news with my mother. She held me and explained that sickle cell is not a death sentence. People live with it every day and they live long, healthy lives. She didn’t blink. I had no idea she would react this way. This was the first time she heard the news as well. She did as mothers do. She was accepting. Accepting of whatever the conditions or circumstances, and convincing in knowing we would do what we need to do. When my husband came home we shared the news with him. He was upset, but as such a silent partner I only wondered how he really felt. My husband is more about moving forward than worrying about things we cannot change. So we move forth together.

We knew the diagnosis early in the pregnancy which gave us a little time to prepare for the journey and learn as much as we could. We had many questions. Trying to absorb all of this information in a short amount of time was overwhelming. Our daughter’s pediatrician, Dr. Michael Connelly, introduced us to Dr. Donald Mahoney, a well-known and trusted hematologist. We were extremely impressed with the care we received; comforting support with a strong degree of professional guidance.

When Joshua was born, we were new to all of this. I felt like we watched him like some sort of experiment. Looking for all kinds of signs every minute of the day. Routinely, we ensured he had sufficient water every day, we marked the bottles; ensured he didn’t miss any prescriptions or appointments; checked to make sure he wasn’t too hot or too cold; checked and re-checked every single detail … we were quite obsessive. Each doctor’s visit we studied his blood count, trends and anticipated what was next.

At age 3, Joshua had a cold which turned into a cough that would not go away. We were not prepared for a real life situation and common sense seemed to have escape us. We tried to fight what we thought was just a cold. We had not experienced any emergencies up until this point. The cough had gone on for days and Josh had an infection, spleen sequestered and his blood count was extremely low. My mom insisted we seek medical care. We were in the hospital for three or four gut-wrenching days for blood transfusions to rid the infection. Moving forward, Dr. Mahoney challenged our knowledge on prescription dosage, verified we knew how to check for Joshua’s spleen and our overall patient care. Each visit we had to know our stuff.

One day, Joshua started to ask about sickle cell. It caught us off guard as we hadn’t quite prepared to explain this to a child. We struggled a bit in our explanation and weren’t sure he really understood. At our next doctor’s appointment our nurse helped with the explanation. Joshua understood more than we expected. He asked, “When will I stop getting needles? When am I cured?” I will never forget the look on his face. He asked, “Never?” He was hurt and perplexed. We continue to educate Joshua at every opportunity.

In 2011, Dr. Mahoney recommended Joshua for the Hydroxyurea study. We were very proud to participate. Joshua has continued to react very well to the drug and we are grateful. Joshua has been going strong, but there are those days when I know he hasn’t had enough water or when I know he needs more rest.

Joshua is happy, shy and sensitive. He has friends at school. He’s a Boy Scout and loves going camping with his dad; showcasing his trophies and badges. Josh loves Pokémon games and cards. He enjoys shooting basketball with his sister and, of course, he loves his granny. They spend a lot of time together. Each and every night I tuck him in bed. We recap our day and prepare for the next and end with a good night hug and a kiss. We pray, and continue to pray. We understand that we can never stop learning.