Jacqueline Wilson is one of 70,000 to 100, 000 Americans living with sickle cell disease (SCD), the most common form of an inherited blood disorder that is more prevalent in certain ethnic groups, including:
People of African descent, including African Americans (among whom 1 in 12 carries a sickle cell gene)
Hispanic Americans from Central and South America
People of Middle Eastern, Asian, Indian, and Mediterranean descent
As an orphan disease that affects <200 000 persons nationwide, SCD does not receive the research funding and pharmaceutical investment given to diseases with a higher public profile or that have captured the attention of the medical research and funding communities. As such, persons living with SCD usually have less access to comprehensive care and more difficulty in obtaining medication for pain relief than do persons with other chronic diseases.
Most persons living with SCD are publicly insured, and Medicaid recipients with the disease have substantial barriers to receiving necessary services. Despite the low prevalence of SCD, the cost associated with managing the disease is high, and the disease has long-term complications. Healthcare providers with expertise in the treatment of SCD are in short supply, and disease-modifying treatments are limited. Fortunately, for Jackie, she has been on private insurance for most of her life, which allowed her to receive better care than most SCD patient
Because sickle cell disease symptoms can begin by four months of age, early diagnosis is critical. All newborns in the United States are now tested for the disease. Sickle cell disease can be identified before birth by testing a sample of amniotic fluid or tissue from the placenta. People who carry the sickle cell gene can seek genetic counseling before pregnancy to discuss options.
And while Jacqueline was able to have her son, now 16, tested at birth, these options were not available when she was an infant. In fact, Jacqueline’s diagnosis came when she was a toddler with symptoms that caused joint and stomach pain. Below, Jacqueline shares her experience with SCD:
When I was first diagnosed...
I was first diagnosed when I was a toddler. At the time of my birth, screening was not yet available. In 1972, Congress passed the National Sickle Cell Anemia Control Act, and the first state newborn screening program for sickle cell disease was implemented in 1975 in New York, which is where my family lived and was able to get me screened. At that time, the life expectancy for a sickle cell patient was 30 years of age.
The impact on my life as a child…
The biggest impact sickle cell had on my life as a child was that I couldn’t do some of the things other kids could do. I would often go into crisis and have to be hospitalized and miss school or play with friends in the neighborhood.
My care options at that time...
My care options were limited. I was subjected to blood work every six weeks to monitor my condition as a child and throughout my teenage years. I had my spleen removed and was prescribed medications that I would need to take indefinitely. Even though the hematology pediatric clinic in New York was one of the best, and its doctors were highly regarded, my parents were never told about clinical trials, which I think was a missed opportunity for me.
I am grateful for…
I’m grateful that I’m outliving the life expectancy. As an adult, my biggest concern is being as healthy as possible since my condition worsens with age. I need to be alive and well for my son. I want to see him experience life’s milestones that every parent wishes for.
I have hope…
I have hope because there are numerous tests done throughout the year that can detect illness, disease, and general health issues that can cause SCD patients’ hospitalization or death. Early detection and preventive measures give me hope. There are also medications out now to alleviate the symptoms and provide a good quality of life for patients. There is also a procedure -bone marrow transplant, which can cure the disease now in certain younger patients. I have hope that in the years to come there will be a cure for all patients living with SCD.
At N-Touch Strategies, we also have hope for patients like Jackie, who are living with a disease, where research is underfunded, but remain committed to advocating for better care, especially for those with limited insurance coverage. We help shine a spotlight on the unseen because everyone deserves equitable care. We invite you to come along on this journey with us. To learn more about N-Touch Strategies, call 855-686-8247 or email us at: consulting@ntouchstrategies.com.
Sickle Cell Resource: