My son Aziz was born in January 2024.
We were very excited before the birth, it was going to be our first child. We bought everything for our son in our house, we did not miss anything.
We went to the hospital one day before the birth. I was so excited that my pain started in the evening and lasted until the morning. Our doctor said it was time and took us to the delivery room.
My son was born in the morning. Heel blood was taken immediately and sent to the lab for examination. We were sent home after staying in the hospital for one day.
We went to the pediatrician for a check-up a week later. Jaundice was detected and what we needed to do was explained.
The jaundice values did not decrease in the two-month period and our doctor diagnosed us with prolonged jaundice and asked us to have a CK (Creatine Kinase) test.
Checked with Genetic Testing
AST, ALT and Creatine Kinase values were well above normal in the CK test. Our doctor referred us to a different hospital. Since the CK level did not decrease during the examinations performed here, they decided to perform genetic testing because it could be Duchenne muscular dystrophy (DMD).
My husband and I were shocked by the existence of a disease we had never heard of before.
As every family does, we began researching what this disease was while waiting for the genetic test results.
In the meantime, our neurologist who was taking care of us referred us to doctors who were in different branches such as metabolism, cardiology, gastroenterology. All other tests were normal, except for one thing: CK
After a 3-4 month wait, our genetic test results came in. Our little son had Duchenne (DMD).
We went to our neurologist the same day with our genetic test result. He referred us to a more specialized neurology professor.
This doctor gave us information about the disease, said that there was no cure, talked about the stages our child would face in later years, and worst of all, he would die one day.
My husband and I had researched many things from the first day of genetic testing until we got the test results. However, we had not looked into DMD treatments and medical research because we always had the hope that it would not be Duchenne.
We Researched DMD Treatments
We were shocked by the genetic test results and what the professor we met with said. My husband spent 3 days without sleeping, studying all the research and treatments for Duchenne from foreign sources, and we learned that there were still things we could hope for.
The FDA-approved exon skipping and gene therapies for Duchenne disease gave us more hope.
Our happiness increased even more when we learned about gene therapy, which was approved by the FDA in 2023 and approved for use at all ages in 2024.
We found children in Turkey and other countries who had received this gene therapy. There was a tremendous difference before and after the drug was administered. The treatment was working.
In Turkey, there was no health institution that applied this gene therapy. The treatment was a single dose and the cost was approximately 3 million 200 thousand US dollars. We also learned that the Turkish Ministry of Health did not cover the cost of this treatment.
Unless you are a millionaire, it would be impossible for us to cover the cost of this treatment without fundraising.
The fact that the total time given by the government to collect donations in Turkey is 2 years also stressed us out. We could not understand why this was a total of 2 years. Because children with DMD can live an average of 20 years or more.
If we could not find the cost of this treatment through donations within two years, were we being asked to leave our child to die? We sent a letter to the ministry to clarify this meaningless period, we requested that it be clarified as soon as possible and that the article of the law be changed if there is such a period.
In all these uncertainties, as parents, we will do everything for our child’s health.
It is not possible for families to cover the costs of these treatments on their own. Countries need to take action and provide hope for children with rare diseases.
Why Are DMD Treatments So Expensive?
Yes, we also guess that the research processes for these types of genetic treatments are very long and serious funds must be found for these studies.
But families cannot afford these treatments. There is something wrong here!
While drugs that need to be administered every month or every year are cheaper, single-dose treatments are sold for astronomical prices.
Moreover, none of these treatments provide definitive results or promise that they do. The only reason families try to cover such high costs is to give their children a chance to live a little longer and to have new treatment options in future.
Drug manufacturers are doing tremendous research on these rare diseases, yes. We always admire doctors who are talented enough to be called geniuses. But aren’t these high costs too cruel?
While some countries’ health insurance companies cover these treatments immediately, others use a waiting strategy while children die.
Please think for a second! How would you feel if your child had this disease?
