Why CureAHC Was Born—and the Road Ahead
Charities come into being for a number of different reasons, but in most cases, their founders notice an under-served need in the world. Medical charities often start because of parents whose children desperately need help and answers for debilitating and painful conditions with no known cures. In the case of CureAHC, the charity began in response to Alternating Hemiplegia of Childhood (AHC), which is characterized by recurring bouts of paralysis that affects the left or right side of the body—or sometimes even full paralysis. These episodes strike without warning and can last anywhere from several minutes to several days.
As any AHC parent can attest, the experience of having a child that suffers from AHC is like losing your child every day. It consists of a lot of sleepless nights, frantic trips to the hospital on short notice, waiting for batteries of test results and sifting through a flood of confusing information. To make matters worse, AHC patients often have other conditions at the same time, such as epilepsy or autism. For instance, my son Matthew is a Type 1 Diabetic. This creates a combination of symptoms that can make diagnosis difficult, even for an experienced specialist. Few parents are able to find the resources that these kids need.
As one can easily imagine, parents of kids with AHC deal with emotionally strenuous situations every single day. The demands of a full-time job and the 24/7 responsibility that comes with parenting are challenging enough. When a child suffers from a condition such as AHC, the whole family needs the support of an understanding community. It is difficult to find effective support when your child suffers from a rare condition like AHC that only occurs in 1 of every 1,000,000 children. (The medical community is beginning to suspect that the condition may be more common than previously estimated.)
Parent charities exist for a number of different medical conditions and diseases. There are some commonalities that typically lead to the formation of these charities. Rare diseases are often unknown or not easily recognized. Doctors who do not have experience treating a particular syndrome may not know how to diagnose it, especially if symptoms are unclear or if there is no definitive test. Useful information tends to be hard to find (if it exists at all). Like other medical charities, CureAHC was born out of sheer necessity.
As of this writing, there is no known effective treatment for AHC, but the medical field has made a number of encouraging discoveries in the last few years. One important milestone was identifying the specific genetic mutation at the root of AHC (stemming from the ATP1a3 gene). Extensive research is still needed to identify the specific reasons why this mutation occurs and to determine if preventative treatments are possible. But thanks to our parents, physicians and great people in our local communities that have demonstrated their commitment year after year to helping us raise awareness, we are able to see measurable progress toward a solution.
A core objective of CureAHC is to reach more parents whose children suffer from AHC and have not been diagnosed. When a case of AHC goes undiagnosed, it impedes critical research (clinical trials cannot move forward with an insufficient number of cases) and prevents families from finding the resources they most need. Over the next several years, much of our efforts will be focused on increasing awareness of this disease and spreading the word throughout the medical community in the hopes of identifying AHC cases more quickly.
Fighting AHC has been a difficult battle that is likely to continue for the foreseeable future. We are encouraged by every small win, and we need all of the help and support we can get. If you would like to learn more or find out how you can get involved, visit CureAHC.org.