Meeting people who have DBA is always an incredible moment because it makes you realize that there are real life superheros in the world! Living with DBA is no easy task, and we are so grateful to Megan for sharing her story and giving us insight into her reality. Megan was diagnosed with DBA at three months old and is one of the most strong-willed and brave people you will ever meet. This is Megan’s story:
“I was born one month premature on the 6th July 1988. I weighed 1.8kg at birth. I had to have a blood transfusion before I left the hospital as I was anaemic, which can be quite common in premature babies. My Heamoglobin level dropped again at age 3 months and I was referred to Red Cross Children’s Hospital for a bone marrow biopsy. Shortly thereafter I was diagnosed with Diamond Blackfan Anemia (DBA).
One of my oldest memories was from when I was 3 years old. I remember looking up at the stars through the window above my hospital bed. I had just woken up at the then City Park Hospital, after open-heart surgery to fix a leaking valve and an Atrial Septal Defect (ASD). Over the next 14 years, I would spend many hours at Red Cross Children’s Hospital, often missing lots of time away from school. That is why the Olive Children’s Foundation is raising funds for an infusion clinic/day hospital for pediatric patients requiring blood transfusions and other intravenous therapies – to prevent children’s lives from being so disrupted during these treatments.
To put it simply, DBA is a rare form of anemia in which the bone marrow produces little or no red blood cells. It’s like the factory is permanently closed and all the workers are always on strike. Red blood cells are made in the bone marrow, the spongy centre of your bones. These cells carry oxygen around the body to vital organs. Oxygen is also used to provide the body with energy.
DBA caused me to have typical symptoms associated with anemia like paleness, poor circulation, and lack of oxygen which all lead to irritability and fatigue, loss of energy and stamina. I also sometimes have headaches. DBA sufferers also may have the following symptoms like hand deformities, cleft palate, heart defects such as my ASD or facial deformities. Personally, I have a bent pinky on my left hand and I am short of stature.
After my diagnosis, I started steroid therapy taking a daily dose of prednisone (cortisone tablets) to help my bone marrow produce red blood cells. The steroids caused me to have stunted growth, to be fat and bloated, and made me lethargic. In 1997, at age 9, I had another operation at Constantiaberg Medi Clinic to remove a loose wire that had come undone from my open-heart surgery.
In 1999, at age 11 the steroid therapy failed and I soon started having regular blood transfusions. About once a month (depending on my red cell & Haemoglobin count) for the past 21 years I have had 2 pints (2 bags) of pure red cells, over a period of about 7 hours. I started on a Designated Donation program where close friends and family donate blood for me. I would get a blood transfusion every 3 to 4 weeks. Now I get blood transfusions about every 5 weeks. Due to the frequent blood transfusions there is a buildup of iron which if not treated with chelation therapy will cause poisoning of vital organs in the body.
So, for 5 nights a week, I used to have desferrioxymine (Desferal for short) injections over 10 hour period, while I slept. It was controlled by a small, electronic volumetric pump which controls the speed and volume of the medicine. In 2006, a new form of chelation therapy was released. It is in effervescent tablet form. Taken as a daily dosage dissolved in a glass of water.
In 2008, I started a clinical trial of Exjade and have been taking it ever since. At age 16, in March 2005, I left Red Cross Children’s Hospital as I was no longer considered a child. I then started having my treatment in the Heamatology/Oncology ward at Constantiaberg Medi Clinic and have been having my treatment there ever since.
Bone marrow/stem cell transplant:
In extreme cases, when none of the treatments work, a bone marrow or stem cell transplant is recommended. This however is only recommended if there is a sibling donor or a person with matching bone marrow to the patient. The transplant is very risky and the patient could end up dying. It is also expensive because donors often have to be found overseas. A drug called cyclosporin is either taken in combination with prednisone as steroid therapy or is taken after a bone marrow or stem cell transplant to prevent the transplant from being rejected by the body.
The support from my family has been the greatest relief on my journey with DBA. My message to people living with DBA is to take things one day at a time. As time goes by, new medication becomes available and the possibility of a cure. To all those people who are registering as a blood or bone marrow donor your little donation can really save a life!
IF YOU WOULD LIKE TO BECOME A REGULAR BLOOD DONOR CLICK HERE TO FIND OUT MORE. If you are not able to donate blood, there are many other ways that you can support the Olive Children’s Foundation, click here to get involved.
DID YOU KNOW?
American pediatricians, Kenneth Daniel Blackfan and Louis Klein Diamond discovered the rare disease in 1938. The syndrome is now named after them, although it was initially called ‘congenital hypoplastic anemia’. DBA is also called Pure Red Cell Aplasia while the umbrella term is Aplastic Anemia. About 800 people worldwide have DBA. There are 30 new cases per year in the US & Canada alone with an average of 7 babies born each year in the UK.
Please note: The views expressed in this article are the views and understanding of the individual author. Medical reference should not taken as medical advice. For more information and queries always seek professional medical counsel.