by Ilene Miller
Some of you may wonder why I keep pushing for the Rare Epilepsy Network Registry (REN) so I wanted to share a more complete reply.
My son Mark who just turned 13 also has HH. He was diagnosed a age 5. I live in Bethesda, MD and am an attorney by training. My husband is a surgeon. We helped found Hope for HH with Lisa Soeby and others because until then there was no place to go for trustworthy medically accurate information about HH diagnosis. The foundation works with a board of Medial Advisors from around the world that specialize in HH.
One of the biggest issues we face in seeking treatment is that HH patients and doctors are dispersed around the world. It’s rare for a doctor, unless they are at a specialized center, to see and treat even one HH patient and even more rare for that doctor to see multiple HH patients. Thus, there is a great deal of variability in the treatment of HH patients. In addition, any lessons learned treating an individual patient is not as likely to be shared with other doctors. Questions such as: which surgeries are most successful? who are the best candidates? even if surgery is successful can seizures return in teen years? what happens if you don’t do surgery? how can you minimize the side effects?
It is very expensive to found, set up, and manage a disease registry which collects patient information and stores it in a database. This is even more true for a rare condition like HH. That is why Hope for HH joined with the highly regarded Epilepsy Foundation, Columbia University and Research Triangle Institute to create the Rare Epilepsy Network (REN). This is a partnership with three prestigious research institutions plus ten rare epilepsy groups. We secured a $1m grant to fund this rare epilepsy network. Now we are trying to recruit all patients and caregivers to register their information and experience with HH. It is important for us to include all HH patients, whether they are newly diagnosed, in treatment, cured recently or cured many years ago. The REN is using the most secure and state of the art tools to ensure the confidentiality, integrity, safety, and anonymity of patient information.
Each patient is asked to complete a 45 minute survey that asks questions about the patient, their age, diagnosis, seizures, treatments, medications, surgeries, and side effects. This information becomes part of the secure Registry database. This database is NOT publicly available. It is available only to researchers who are conducting scientific research on epilepsy and HH. A researcher can look up how many people have sleep issues, but because the information is all “anonymized” he/she cannot see WHO the patients are.
The key is that if a researcher wants to do a study on autism and HH/epilepsy, a review of the data will tell them how many people have both. The REN will contact the people that entered the information and let them know a researcher is interested in having them participate in a study on autism and HH/epilepsy. The patient/caregiver can decide to participate and release their contact information to the researcher or choose not to participate. Patients/caregivers are under no obligation to participate in any research studies.
Even if patients NEVER participate in a research study, the knowledge gained of knowing that a certain percentage of HH patients have sleep issues, or autism, or some other effect of HH will shed light on how this condition impacts on people. It will help bring together tiny pieces of information that are dispersed all around the world into one centralized place where researchers can start to look for patterns and make sense of it.
My son turned 13 this year and he is thriving – but not a day goes by that I don’t worry WHAT IF – what if his seizures come back with a vengeance, what if he starts to decline, will he be able to drive. There are so many things we have NO control over – but entering his information into the registry so we can contribute to the understanding of this condition is something I am absolutely passionate about.
As always, I am happy to speak privately with anyone that might be concerned about the safety of the information entered, why it is important to participate, and whether you are eligible – but the bottom line is …. if you are an HH patient or caregiver – no matter how old, or where you live or whether you are newly diagnosed, in treatment or cured – YOUR PARTICIPATION IS TRULY CRITICAL!