Shortly after my son Landon was born in 2019, he was diagnosed with sickle cell disease (SCD). My husband and I knew that a SCD diagnosis was a possibility since we were both carriers of the SCD trait. I have known since I was a teenager that I had the SCD trait, but my husband found out that he carried the trait during my first pregnancy with my older daughter, Avery.
Before Avery was born in 2016, my husband and I did a lot of research about SCD and bone marrow transplant as a potential cure for SCD. We decided to store Avery’s cord blood at the time of her birth because we knew it could potentially be lifesaving if it turned out that any future children, had SCD. It turned out Avery did not have SCD.
After Landon was born, he went through the standard routine newborn screenings. About two weeks later, I received a call from the hospital: Landon’s newborn screening test result was abnormal, making it likely that he had SCD. He would need to have additional tests to confirm the diagnosis, but we knew that it was unlikely that the results were false positive. My husband and I were saddened by Landon’s results: this was not the life we had envisioned for him. We immediately started researching Landon’s options for clinical trials and a bone marrow transplant.
What is Sickle Cell Disease?
Sickle cell disease (SCD) is a group of red blood cell disorders inherited from a person’s parents. Healthy red blood cells are usually round and flexible. They move easily through blood vessels to carry oxygen to parts of the body. People with SCD have hard and sticky red blood cells that look like a C-shaped “sickle.” Sickle cells die early, which causes a shortage of red blood cells. The sickle cells also get stuck and block or slow blood flow. This can cause pain and other serious complications such as infection, splenic sequestration, acute chest syndrome, and stroke.
There are several types of SCD. HbSS is the most severe form of the disease. This is the form of SCD that Landon has.
Who is at risk?
Approximately 100,000 Americans live with SCD. Although African Americans and people of African descent are most commonly affected by SCD, it also affects people of Hispanic, Middle Eastern, Southern European, Native American, and Asian Indian ancestry.
The disease is also prevalent in India, where more than 20 million people live with SCD.
Living with the disease
One of the reasons SCD is so devastating is that it affects every organ in the body. As the disease progresses over time, patients experience organ damage. In addition, because SCD patients have a lack of oxygen to their bones, they suffer from chronic pain with episodes of acute pain crisis.
Children with SCD fare better because, for the most part, there are medications (such as hydroxyurea or penicillin prophylaxis) that can prevent infections. The pain management for children with SCD is also less complicated than it is for adults. Adults who have been living with pain for many years often find that the pain medications are not as effective, requiring much higher doses to control their pain. This is complicated by the opioid crisis; there is often a stigma that SCD patients are abusing opioids or that their pain isn’t real. In addition, children with SCD also have a lot more resources and a stronger support system within the health care infrastructure than adults with SCD.
Sickle cell disease and mental health
Many people with SCD experience mental health challenges. The reality is, people with SCD face a lifetime of chronic pain and frequent hospitalizations, a gradual health deterioration, and shorter life expectancies. Since people of color are more commonly affected by this disease, they often deal with racism or face disparities in getting care. As a result, they suffer from depression and anxiety at much higher rates than the general population. The prevalence of depression among people with sickle cell disease is estimated to be five times higher than the general population.
Weighing Our Options
Not everyone with SCD is a candidate for a bone marrow transplant. For the transplant to work, the bone marrow must be a very close match; usually, the best donor is a sibling. Also, transplants are usually reserved for children with severe SCD, before they experience significant organ damage. Bone marrow transplants that are performed in children with SCD usually happen before the age of 16.
When my daughter Avery was tested, we found out she was a 100 percent match for Landon. While this was wonderful news, we also knew the reality of the situation: bone marrow transplants pose many risks and can have serious side effects and complications. But my husband and I knew we had to try for Landon’s sake. The statistics were too promising to overlook: 9/10 children with SCD with a full sibling match, who get a bone marrow transplant are cured. Because of this, we decided to move forward. with the bone marrow transplant.
Landon’s Bone Marrow Transplant
Landon’s transplant was scheduled for August 2020 at Children’s Hospital of Philadelphia (CHOP), in the middle of the COVID-19 pandemic. At the time, he was 17 months old — the second youngest person with SCD to ever get a bone marrow transplant at CHOP. My daughter Avery was three. Although Avery’s cord blood was being used for the transplant the doctors also needed to harvest some of Avery’s bone marrow cells to make sure that they had enough cells for the transplant. So, both my children had a procedure the day of the transplant. Avery went to the operating room for the bone marrow harvest, and later on, Landon went in for the transplant.
Weeks before the bone marrow transplant, Landon had to undergo a conditioning process to clear out old blood cells and make room for the new donor cells from Avery. This is a way to also calm the immune system down in order to increase the chances of a successful bone marrow transplant. This meant he had to undergo reduced intensity chemotherapy about three weeks before the transplant.
On August 6, 2020, Landon went in for his bone marrow transplant at CHOP. I stayed in the waiting area near the operating room where Avery had her procedure while my husband stayed with Landon. Avery did wonderfully, and came out of her hour-long procedure without pain. As she said in a video just a couple of hours after the bone marrow harvest, “I put my cells in Landon’s bones.”
Landon’s transplant went smoothly, and he spent close to six weeks in the hospital afterwards. Although he experienced some side effects and complications, his body successfully accepted Avery’s bone marrow. Based on his most recent test results, Landon’s bone marrow is currently producing Avery’s cells at 100 percent. That means his bone marrow is no longer making sickle cells and he is considered cured.
The Importance of Funding and Awareness
In 1910, a doctor in Chicago published the first-known medical paper referencing “sickle-shaped” blood cells. Over the next few decades there was little awareness, funding, or research on the disease because of racial disparities. In 1972, the Sickle Cell Disease Association of America helped pass the National Sickle Cell Disease Control Act. Since then, funding and public awareness of SCD has increased somewhat, but it’s still not enough.
In 1984, a child with leukemia and SCD had a bone marrow transplant, and was the first person to be cured of SCD. Since then, there have only been about 2,000 people with SCD who have undergone bone marrow transplants. Why are so many people still suffering with this devastating disease when there is a potential cure?
- There is little funding for SCD. The government and donors contribute less money to support research on diseases that disproportionately affect the Black community.
- Funding is tied to awareness. Because there is low funding, there is a lack of awareness around the disease, including the fact that there is a potential cure. We are lucky to live near Philadelphia, which does a great job of supporting the SCD community. But depending on where you live, some doctors may not even know bone marrow transplants are a potential cure for SCD.
- Bone marrow matches are hard to find in general, and especially hard in the case of SCD because it usually has to be a full sibling match. In addition, the number of people of color who are registered as bone marrow donors is very low. It was truly a blessing that Avery was a match for Landon because the reality is, there is a low probability of finding a match on the registry, especially for people of color.
My hope is that by raising awareness about SCD, more funding can go toward research for treatment and cures, and more people can be cured of SCD like Landon.
- American Sickle Cell Anemia Association
- Be the Match (I encourage everyone to register, especially people of color.)
- Children’s Hospital of Philadelphia
- American Red Cross: History of Sickle Cell Disease
- Clinical Trial Finder