Navigating sickle cell disease: Isaiah’s story

A smiling baby wearing a handkerchief and sitting in a stuffed chair.

The Diagnosis

August 8, 2018. Two weeks to the day of Isaiah’s birth, as promised. OHSU is calling me.

First ring. I know what this is. It is the results of his newborn screening.

Second ring. Why are they calling? They do not normally call.

Third ring. My husband is now asking me who it is.

I just feel it. I know what this is. Maybe if I ignore the call it will not be a reality. We can continue to enjoy this beautiful lunch over the Willamette River on this picture-perfect August day. No. I must do it for my son. I answer the phone.

We go through the normal greetings and then finally the words I have been dreading to hear: “I am sorry to inform you, but Isaiah’s test results did come back positive for sickle cell disease.”

My world was shattered. All I could think was, what have I done to my son?

Sickle cell disease is an inherited genetic blood disorder that impacts the red blood cells. Normal red blood cells are round and as they move through small blood vessels, they carry necessary oxygen to all parts of the body. A person with sickle cell disease will not produce normal red blood cells. Due to their genetic disorder, people with sickle cell disease produce blood cells that are hard and, for lack of better words, sticky. These cells look like a C-shaped farm tool called a “sickle.” As these cells pass through the blood stream, they can cluster together and impede the blood flow. This can cause severe and debilitating pain (known as pain crises) and other serious problems – the most common are acute chest syndrome and even stroke. There are different types of sickle disease, each with their own level of gravity. The worst form of sickle disease is sickle cell anemia. Our sweet Isaiah has sickle cell anemia.

Our beautiful day, crushing over our sweet new addition was shattered for me. My parents and husband immediately told me to stay strong. They were so adamant this would all work out. I could not bring myself to feel the same way. I am his mother; it is my number one job to protect him and give him the tools to be the most successful at life. And before his life really began, I felt like I already failed him.

The Plan

After a few days of phone calls with the OHSU Doernbecher scheduling team, we brought Isaiah in for his first appointment. With over a decade of experience in the clinical research field, I had spent the last few days poring over science journals, blogs, interviews, books and newspaper articles on sickle cell disease. With notebook in hand, I was armed and ready to conquer this appointment and this disease.

We stepped out the elevator on the tenth floor and as I looked up, I saw the sign “hematology/oncology.” That was it for me. I am not sure how to describe it. I became numb. My husband, Jonas, listened, talked and asked questions. I took notes and pretended to engage. Our 2-year old, Christian, bounced around and played with the toys. He can sense sadness so well; he smiled and laughed to try to make me happy. “Are you happy now, mommy?”

We left with a binder to stay organized with Isaiah’s treatment plan. Isaiah would take oral penicillin twice a day, a multi-vitamin, and hydroxyurea (an oral chemotherapy). I have helped write protocols for chemotherapy treatment plans, written drug diaries to support patients, and here I was preparing to give my little guy chemotherapy. Life is interesting. One big, complicated, interesting, beautiful mess.

The Team

Jolene Taylor. She was the first person we met on Isaiah’s team. Jolene welcomed our family as if we have known one another for years. I continue to have a hard time understanding how someone can be so loving and kind to people she doesn’t yet know. Jolene does not just look after Isaiah – she uplifts our entire family. I did not realize it at the time, but Jolene sprinkled fairy dust on me that first day, for strength and hope.

We all like to feel special. Oftentimes we rave about our doctors and unnecessarily glorify them as gods and goddesses. It is so amazing to be able to look at Dr. Wong and Dr. Wu of the pediatric hematology oncology program and Dr. Nemecek of the pediatric bone marrow transplant program and call them friends. I know they care about Isaiah, and not because their jobs require them to.

Then there’s the entire team at Doernbecher. I will never forget my first Mother’s Day with Isaiah. We spent it together, bonding during his first admission to Doernbecher. We were there for an entire week. My little guy was hooked up to tubes and an IV line, his arm bandaged and wrapped up against a board to protect his IV line. My husband went home with Christian. I stayed awake all night watching my little Isaiah. We did not know if this was the first of what could be many pain crises.

The next morning, I went to a dark hole. I cannot do this. I need to try for Isaiah, but I swear I cannot do this. I looked over at Isaiah, and he gave me a gorgeous, dimpled smile. Our sweet boy. And then the art therapists came in, the musical therapists came, physical therapists, puppies! They placed a soothing sea-themed musical display in his crib to comfort him. In an instant, Doernbecher transformed from a hospital to a magical land of fun and laughter. As Christian and Jonas visited each day, the Doernbecher team scooped Christian up to join the fun, a nanny to give Jonas and I some quiet time. They help you feel normal. They give you hope.

There is a cure for Isaiah: a bone marrow transplant from a matched donor (preferably a sibling) with normal blood cells. My line of work has taught me about gene matching and the technology used to cure sickle cell disease. In the interesting mess of our world, Christian is a beyond definition perfect match for Isaiah. Our beautiful care team, which now includes Allison Franco of the BMT transplant program, recently guided us through the process of transplant planning, even as far as supporting our decision to seek a second opinion. Thanks to the medication Isaiah is on and monitoring tests, he is doing just fine. When his body tells us it’s time, he will undergo the transplant or potentially a gene editing procedure to cure him of his sickle cell disease. And our Doernbecher family will be right by our side.

I love the work that I do. I am the Assistant Director of Research Collaborations for the Knight Cancer Institute Precision Oncology program. For decades, I have worked in the clinical research field. I love that I can play some small role toward finding the cure for cancer. As I learn more, I commit myself to pass on the knowledge. I have volunteered to speak to communities about cancer screening tests and clinical trials. Over the years I have learned a great deal about Precision Medicine.

In my interesting mess of a world, my personal and professional life imploded together. Yet with all my knowledge, as a mom you cannot think clearly. All that textbook knowledge went out the door for me, and I had to keep pulling it back in. I wonder, what is it like for other families without a decade of knowledge in the hematology/oncology field? If I have questions and still need clarification, they must, too.

Jolene, Allison and Drs. Wong, Wu and Nemecek are my constants. They make us feel safe. I want that same feeling for every family navigating sickle cell disease. I have committed myself to advocacy work to equip the sickle cell community with the tools and resources they need to beat this disease. Today, with a careful “clean” diet, medicines and constant love, Isaiah bounces around like any normal 2-year-old child. I am committed to ensuring that every family battling sickle cell disease can experience this same hope. My career and sacrifices were there to make me strong for this moment, and I intend to do all that I can to somehow pay the massive love that we have received from OHSU Doernbecher Hospital forward.

Life is interesting. One big, complicated, interesting, beautiful mess.

 

Rochelle Williams-Belizaire
Assistant Director, Research Collaborations
Precision Oncology
OHSU Knight Cancer Institute

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