“He will never have complications; you won’t even notice he has Sickle Cell”, the doctor reassured me at my son’s very first hematology appointment at the age of four months.

I have two sons with Sickle Hemoglobin E Disease (SE). They are caucasian-hispanic, both have a baseline hemoglobin in the 11–13 range with low reticulocytes, and yes, both have complications from chronic pain, vaso-occlusive crisis, and acute chest syndrome, to priapism, executive dysfunction, tissue damage, and silent stroke. Both of my sons have been followed by a hematologist on an annual basis, never prescribed prophylactic penicillin, never undergone a transcranial doppler (TCD) scan, have never needed a blood transfusion, and are not good candidates for any of the four medications currently on the market for the treatment of Sickle Cell Disease.

I jokingly tell medical students who visit their bedside, “Take everything you know about Sickle Cell and throw it out the window” as they are not your “typical” Sickle Cell patients. But what is a “typical” Sickle Cell patient? Sickle Cell Disease is characterized by its extremes and variations. Just Hemoglobin D alone has multiple variants. I can’t even count the number of times I have heard someone say, “I have Sickle Beta Plus, but it acts more like SS”, or “I have SC, which is supposed to be more mild, but I am always in the hospital”, and “I get pain every time I fly, even though they told me Sickle Cell Trait is asymptomatic”. Meanwhile I have met numerous SS patients who have escaped the bone-crushing complications commonly experienced with Sickle Cell Anemia. It is important to note that each Sickle Cell patient has different triggers, different symptoms, different pain experiences, different responses to treatment, and so on, and the mantra of the community is often a gentle reminder that Sickle Cell is “patient by patient not genotype by genotype”.

An under-acknowledged side effect of Sickle Cell’s many hemoglobin variations and the desire to address the “typical” Sickle Cell patient en masse is that very little is known about these other, less common, genotypes such as SD, SO, and SE. I have had an Emergency Department Physician correct me once, “You mean SC. There is no such thing as SE”. How can one reasonably expect to receive adequate medical care when the medical professionals treating them have never even heard of their type of Sickle Cell Disease? Additionally, due to the negative stigma surrounding Sickle Cell, I have personally been accused of using my children as a way to get drugs because they do not look like the “typical” Sickle Cell patient. When my oldest son was born in 2007, in spite of being told that he would not have any complications from Sickle Cell, I still did what most mothers in my position do—I googled, I researched, I called other hematology centers around the country, I reached out to family members and friends in the medical field for advice; I left no stone unturned. Sadly, I uncovered very little specifically about SE and was left questioning our doctor’s prognosis and if she even had personal experience treating a patient with Sickle Hemoglobin E Disease. Moreover, while there has been universal newborn screening in all 50 states for the presence of hemoglobin S since 2006, there are still places that do not screen for all hemoglobin variants and therefore, patients like my sons with SE may be erroneously diagnosed with Sickle Cell Trait.

While the Sickle Cell community fights for equitable funding and research, the motivation behind the gross disparity in this area as compared to other, less common, genetic disorders, such as Cystic Fibrosis and Hemophilia, is often called into question. There are many who affirm racial discrimination as the root cause. However, I believe that the highly individual nature of Sickle Cell plays a substantial role as well. I can imagine, as a researcher, the goal would be to find a convenient “one size fits all” treatment. Unfortunately, with the seemingly infinite variations under the Sickle Cell Disease umbrella, a “one size fits most” approach is even unlikely. When you take this into account, is it any wonder it took over 100 years for an FDA-approved research-based drug to hit the market? As a result, the now four medications on the market for the treatment of Sickle Cell Disease, Hydroxyurea, Endari, Adakveo, and Oxbryta, are not suitable for my boys with already naturally high hemoglobin.

I have had friends and family question, although the current prescription medication treatments available would not be effective for my sons, they could still undergo innovative curative treatments such as gene therapy or bone marrow transplant. While theoretically they could pursue these options, as a parent, I question whether these treatments will actually improve their quality of life. There are numerous potential side effects from graft-versus-host disease, and infertility, to secondary cancer. Not to mention, no parent wants their child to have to go through chemotherapy, if it can be avoided. But perhaps the biggest factor holding me back from pursuing these options, however, is the damage is already done. True, the current “cure” for Sickle Cell Disease stops future complications and prevents further damage. But my two boys have already suffered so much and their acute episodes have already caused tissue damage, leading to chronic complications that will not be magically erased by such drastic measures as chemotherapy and gene editing. I strongly believe that a true cure for Sickle Cell will take place as soon as possible, if not in utero, to prevent the sickling from ever occurring in the first place. That is not to say that I am a proponent of modern day eugenics, but rather a proactive approach, versus our current, “let’s wait and see how bad it is first” mindset.

In order to achieve significant strides in improving the quality of life for the Sickle Cell community at large, I believe the following should be a top priority:

  • Conduct a major overhaul of Sickle Cell education amongst medical professionals, dispelling myths such as: Sickle Cell Disease is a “black person” disease, all people with Sickle Cell have low hemoglobin, pain crises are always evident in bloodwork, and certain genotypes are intrinsically more or less severe; reversing the negative stigmas surrounding Sickle Cell Disease such as: Sickle Cell patients are drug seekers, lazy, and unreliable; and including in-depth information regarding variations of Sickle Cell Disease and its diverse patient population.

  • Actively seek to include lesser known and less common genotypes in studies to provide each patient with viable treatment options.

  • Pursue universal curative therapies suitable for the youngest of Sickle Cell patients to prevent them from ever experiencing devastating damage, thus ensuring quality of life.

Addressing not only the “typical” but the typically atypical patient, as well, while challenging, is the key to providing equitable care for Sickle Cell Disease.