Being a parent of a child with a rare disease has its unique challenges. There are so many questions that you ask yourself on a daily basis.
Why does my child have this condition?
Why is he not developing like other kids?
Why are there no treatments available?
Why can’t I do more to help him?
These questions change all the time, but the really frustrating part is that the answers do as well.
A rare disease is defined, in the US, as any disease having fewer than 200,000 patients. There are currently about 7,000 known rare diseases. 95% of these have no treatment. The lack of information about the conditions makes it difficult to get a diagnosis or figure out a treatment plan. The average age for a person to receive a rare disease diagnosis is seven. This means an average of seven years of living with symptoms that are not explained. Even when a diagnosis is made, there are limited treatment options. This is because there are usually a small number of physicians that have knowledge about the disease, and there is a general lack of information on how to treat it. Working with insurance companies and finding financial assistance can also be troublesome for those living with a rare disease. All of this can lead to feelings of isolation and frustration for patients and their families
Jacob has been delayed in development for a long time. We started therapy but had no idea he would end up diagnosed with a rare disease. It wasn’t until he started having seizures that we finally got a diagnosis. Even that took over a year, after they started, to get the right genetic panel that confirmed he had CTD. There are times I let my thoughts get the best of me. I ask myself why I didn’t push the doctors to run the tests sooner. However, I can’t think like that. The doctors didn’t have the right information to do those tests earlier. When Jacob’s doctor got the results from the test, he still had to do a lot of research to figure out what to do. The lack of information forced him to suggest an unproven treatment plan.
I try to focus on what I can do now. I can share Jacob’s story. I can talk with other families living with CTD so that we can learn from each other’s experiences. I can share what we have gone through so that it might help another rare disease patient. I can also fill out patient registries to give doctors and researchers information as they try to find a treatment.
Fortunately for us, ACD just launched a new patient portal in March. I have filled out things like this in the past, but this one is different. It was developed by ACD with the medical board as well as patient families to target questions for our kids. I was a member of the group that developed it. Reworking the questions and adding our unique perspectives has been a rewarding experience. The information collected will be given to researchers to develop treatments for patients with CTD, AGAT, and GAMT. The initial goal was 100 patients and we have just reached that. We are working to have even more join in the near future. The more patients that sign up, the more likely ACD will attract new researchers and qualify for more grant opportunities.
Jacob is my “Why” and I want to do anything I can to help. I will also do anything for the other patients living with this rare disease. I know that by working together we can help all of these patients. If we don’t work together for the future of these patients who will? I encourage everyone to join the registry. It only takes a few minutes and will help so many people.