CGD stands for Chronic Granulomatous Disorder, and is a condition where the immune system cells do not function properly. It is life threatening and life limiting.
To be specific, CGD patients have a faulty gene which affects key immune systems cells called phagocytes. Normally these cells protect your body by attacking harmful bacteria and fungi with oxide chemicals to kill them. In CGD, the phagocytes can’t produce the oxides. Small infections can easily become deadly
How do you get CGD, and how many people have it?
CGD is normally a faulty gene inherited from parents on the X chromosome. In some cases, the gene mutate randomly as the baby is being formed. This is more rare, and unfortunately, this is how Ally got the condition.
CGD affects about 5 people out of every 1 million, so the chances of getting it are 0.0005%. Its kind of like winning the reverse lottery. When Ally was diagnosed, the local hospital had seen 2 cases in the last 10 years.
There are three main treatment options. The first is medical management. CGD patients can get continuous antibiotics and other medications for the rest of their lives. However, with this method the average CGD patient still only survives to their 40s.
The newest treatment is gene therapy. In gene therapy, stem cells are taken from the CGD patient, then modified in a laboratory. The cells are put back into the patient, and hopefully they start multiplying and creating healthy working phagocytes. This treatment method has the potential to permanently cure a patient, but is still in the very early stages of development and has not shown any consistent long-term success yet.
Bone marrow transplant (BMT) is the most common treatment method, and this is what we are asking your help for! In BMT for CGD, bone marrow cells are taken from a healthy donor and transplanted into the patient. Hopefully the healthy donor cells integrate and start creating working phagocyte cells. In order to work, the donor cells must match very closely to the patient cells, otherwise the patients body may reject the new cells. There are 10 key markers to match, and finding a donor can mean that as many as 100,000 people may need to be screened. BMT patients must also undergo risky chemotherapy in order to prepare the body for the incoming new cells. However, if all goes well the patient can be fully cured! This therapy has been used in 1000’s of patients of various conditions and has a high success rate (90%).