“This disease has impacted my life in so many different ways: good and bad.” These are the words from Natasha Thomas, a woman who was diagnosed with sickle cell disease at the age of seven. Sickle cell disease is a blood disorder that affects the red blood cells in the body. A healthy red blood cell is normally round and the sickle cells are half-moon shaped. This irregular shape does not carry enough oxygen throughout the body causing organ damage and when these half shaped cells cluster together, they can cause severe pain.
Sickle cell results from a mutation in a certain hemoglobin gene found on chromosome 11. The normal codon for someone who doesn’t have this disease is GAG but for a person who has sickle cell, the ending codon would be GUG. This causes there to be a different amino acid, valine instead of glutamine which causes the condition. Sickle cell disease is autosomal recessive which means two copies result in the sickle cell trait. To get this, you would have needed to inherit one gene from your mother and father. Natasha did not say her parents had this disease, but we can assume that her parents both had it or were both carriers since Natasha and her brother were both diagnosed. Natasha is from African descent and she said that it is most common in their race but it is quite misunderstood that only African descent is affected.
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Having this disease, you don’t have many noticeable physical features unless you have the symptom of Dactylitis, which is having swollen hands or feet. It does have physiological effects like organ damage to the heart, gallbladder, eyes, liver, bones, and joints. It is very limiting in physical activities because it can cause a large amount of physical distress, even causing some active people to collapse or even die during exercise and playing sports. Natasha said at a younger age, due to sickle cell, she had to drop out of her dance group which she loved very much and now running is very difficult for her.
To see if you have this disease, you are tested by a blood test, which is how Natasha found out at seven years old, which is an older age to have been diagnosed. Most people are diagnosed at birth or around four months when symptoms begin to show significantly. Doctors try to do a blood test as soon as possible so the proper treatments can be given to the baby, although, there is not any way to prevent or cure this. There are a variety of treatments available to help with some symptoms associated with sickle cell disease. One treatment option is chronic blood transfusions which Natasha had only needed once in her life. A chronic blood transfusion is used to increase tissue delivery of oxygen and to provide normal red blood cells to the body. Another form of treatment is Hydroxyurea and it is a drug used to decrease painful episodes. When it’s put into the body, it makes the red blood cells a larger shape and keeps them flexible so it is not as likely to turn into a sickle shape. Natasha does not qualify for this drug because you need to have been hospitalized four times a year. There is a new drug that just got FDA approved and Natasha may finally qualify for it and it is called Oxbryta. The making of this drug is a huge milestone and breakthrough for those suffering from this condition because it helps treat the root cause of sickle cell disease.
At St. Jude and many other places, there have been a few clinical trials done to help find a cure for sickle cell disease. Out of these trials, the one that seems the most effective and successful is gene therapy, which is given to many with this condition to help them a great amount. Gene therapy is allowing doctors to alter and reverse some of the patient’s stem cells which is meant to repopulate the bone marrow to make healthy blood cells in the body. In another clinical trial for gene therapy, they are trying to replace the mutated gene with a healthy gene in hopes of reducing the sickle-shaped cells and help with the pain. Many doctors and hematologists believe that one day they will be able to hopefully find an ending cure to sickle cell.
With all these clinical trials and therapies going on, it can get quite expensive and funding for this isn’t at its best. Over time, costs for this disease have gone higher than $1 billion in research, new treatments, and many other things dedicated to improving the lives of patients. One of the biggest contributions with funding to sickle cell is when the Legislation of Congress signed a bill to give $4 million to help with treatments. Many patients with this condition believe they deserve better funding because costs do build up over time. Some people who qualify for different drugs to help aren’t told about them or given the chance to take them. Dr. Sophie Lanzkron, who directs the adult sickle cell clinic at Johns Hopkins Medicine, says “We should be prescribing it to everybody who’s eligible, and everyone who’s eligible should be taking it.” Natasha also believes that funding should be better because her brother, who I mentioned before, died from this condition at the age of 25. Natasha does not want her family to go through the same thing if anything was to happen to her. Sickle cell affects many people worldwide but yet so many people don’t know much about it. More awareness should be made about people’s lives who have sickle cell, including Natasha Thomas.
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