Please Participate in the Rare Epilepsy Network (REN) Registry

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!

Rare Disease Day February 28

Rare Disease Day button

by Katherine Busby

Today is Rare Disease Day. It’s the day to recognize all those thousands of diseases that largely go unnoticed, diseases that receive little funding to researchers from drug companies and from the government because the patient population isn’t big enough to make it cost-effective. Collectively though, thousands suffer from these diseases and with the help of determined patients and parents, the internet, social networking, and some of the bigger support/advocacy groups that encompass many different rare diseases, changes are increasingly being made. Hypothalamic hamartoma is what Ezri has and is one of these (ultra) rare, and many times catastrophic, disorders. It is amazing to see the increase in treatment options and improvement in prognosis that have occurred over the last 15 years due to the acceleration of information exchange. Hopefully the research in my future will help contribute to many more great changes for patients of rare disorders!

Introduction and Update from Carrie

2015-02-05 Carrie Fulcher

Hi my name is Carrie and I am a young adult living in the UK and was diagnosed with HH in 2013. I am writing this blog to show how easy it is for patients with HH to be misdiagnosed and undergo unnecessary procedures. Thankfully I have turned my life around but it wasn’t easy after such major surgery.

It’s been two years since I underwent a temporal lobectomy. After being diagnosed with temporal lobe epilepsy I felt this was my only chance to be cured of daily seizures. How wrong was I? After the surgery my seizures increased from 10 gelastics seizures daily to every 15 minutes. I couldn’t quite understand if this was normal but my gut instinct was telling me it wasn’t. My neurologist was confused and really didn’t understand why my seizures increased as opposed to decreasing. I was sent for an MRI only to be given the news I was not expecting! My diagnosis was incorrect. I didn’t have the temporal lobe epilepsy with which I have been diagnosed for 31 years. In fact I have HH.

How do you possibly get your head around going through major brain surgery to find out it was […]

Continue reading Introduction and Update from Carrie

Colby’s Journey and Challenges: Update January 2015

2015-01 Colby Jensen thumb

I have heard so many great success stories lately and feel so hopeful for the future of HH. I also realized I have not seen many stories about the challenges that people are facing even after treatment. As a patient or parent, I think it is very important to hear the whole story before you make the difficult decisions about you or your child’s care. I encourage other families to write about their journey, what treatments have been tried and what outcomes they have experienced in order to give other families a complete picture of HH.

Colby is now 4.5 yrs old. He was diagnosed with HH at 2.75 yrs old when he had a complex partial seizure that lasted 15 mins. The team at BNI/PCH recommended he have laser ablation surgery. On Oct. 23rd, 2013, he went in and after 7 hours of surgery came out looking pretty good. He had a slight fever once he reached the ICU. Two days later we noticed that the left side of his face did not smile like his right. We also noticed that his drive for food was a little extreme. He would ask for food all day long. About a […]

Continue reading Colby’s Journey and Challenges: Update January 2015

Call to Action for Rare Epilepsy Network for Hypothalamic Hamartoma

Happy New Year to all of our Hope for Hypothalamic Hamartomas Patients & Caregivers!

We realize everyone is busy this time of year, but we are asking you to please take time to enroll in the Rare Epilepsy Network (REN), which is a very important research study that the Hope for HH is participating in with the Epilepsy Foundation. As you will recall, EF and 10 other rare epilepsy groups were awarded $1M grant to establish a registry to better understand HH and other rare epilepsies.

We have committed to enrolling a large number of families and we are below our target. The Epilepsy Foundation will be applying for 3 more years of funding to continue the REN and we need to quickly get our number of registered patients up.

Hope for HH set a goal of 110 patients registered. Only 26 have signed up so far. Please help us meet goals for HH by signing up Today. The survey will take just 45 minutes max. It is broken up into sections and you can complete it over several days. No medical records are required, although you will be asked if you have EEG or MRI reports that can be […]

Continue reading Call to Action for Rare Epilepsy Network for Hypothalamic Hamartoma

Making Progress and Call to Action for Laser Ablation Petition

faith smile

by Sue Jackson on November 15, 2014

Faith has been on Zonisamide for a year, we have slowly increased it to the dosage she is on now. 100 mg twice a day. With room for still some more increase.

In seven years this is the best Faith has ever been with her seizures and moods. As i’m writing this she has only had one small gelastic/partial seizure. This is amazing for Faith as her seizure control has never been the best.

We initially started Zonisamide because her seizure pattern changed to an extent that was quite unbearable for her and us. They had become quite long lasting up to 3-5 minutes and stronger in nature. she had also become quite postictal after her seizures sleeping anywhere up to 20-30 minutes after the longer ones.

We were finding that she would have a good spell with each increase initially of about three weeks and then the bigger seizures would start to creep back in. Though with this last increase the good spell seems to be lasting longer which is amazing. I think of it as our wonder drug and just hope that this increase is the one that will finally put […]

Continue reading Making Progress and Call to Action for Laser Ablation Petition

Eli and the Ketogenic Diet

2014-11-11 Eli Halloween-sm

by Angela Donn on November 12, 2014

Despite Eli’s diagnosis, two brain surgeries four months apart 1500 miles from home, and daily seizures, the ketogenic diet has caused us the most stress!

The diet started off with a three day hospital stay at Johns Hopkins Keto Clinic. Here we had classes to help us learn about the diet and how to prepare food. It is hard at first because it goes against conventional thinking. The Ketogenic diet essentially is 92% of calories from fat. So Eli’s first food after fasting for 24 hours was about four bites of chicken, a third of a stick of butter, two pieces of broccoli, and heavy whipping cream. They served it to us and we were like, what are we supposed to do with this butter? So he got mouthfuls of butter with a little chicken. We then knew we were in for something…

So it is really hard to get a handle on the diet which is a 4:1 ratio of four fats for every one protein/carb. We have spent hours upon hours trying to convert a few recipes to get the right ratio within our calorie allotment. We have to measure every […]

Continue reading Eli and the Ketogenic Diet

Rare Epilepsy Registry (REN) is Launched


Hope for Hypothalamic Hamartomas is pleased to announce the exciting news that you’ve been hearing about for the past year. Hope for Hypothalamic Hamartomas, The Epilepsy Foundation and nine other rare epilepsy organizations were awarded a one million dollar grant to launch a rare epilepsy registry!! After months of hard work by the Registry team who have developed a comprehensive questionnaire, the time has come to invite participation by individuals and families with hypothalamic hamartomas.

We would like to challenge every HH patient and caregiver to complete the REN survey so we can better understand what causes HH and how to cure it! Click on the logo link below to enroll and participate in this research.

To encourage even more participation, we challenge each person who completes the questionnaire to challenge three more individuals and post your challenge on the Hope for Hypothalamic Hamartomas Facebook Page.

Click the REN logo below to go to the questionnaire and get started.


And here’s Wendi’s challenge.

Two Year Follow-up and Good News for Christopher


It has been awhile since I have written. I guess since Christopher’s laser ablation surgery he has been doing so well and there has not been much to say. He completed kindergarten this past school year without any learning problems. He has become a avid reader and continues to love being a football player. He has been off all seizure medication for over a year now and his EEG’s remain completely normal. No sign of HH at all.

We returned last week from Houston were we saw both Drs. Wilfong and Curry for what right now was his final appointment. It has been a little over 2 years since his laser ablation procedure. It was a very emotional day for me as we left for the airport to go back home. I guess it was a day of all emotions rolled into one. All I ever hoped once we learned he had HH was a chance at a seizure and HH symptom free life. We knew being this treatment was new it may be a gamble worth taking. We also knew that technology brings new treatments in medicine. As a nurse for over 20 years I see it firsthand and […]

Continue reading Two Year Follow-up and Good News for Christopher

Episode of The Doctors features Two HH Families

This has been an exciting week for the HH community as the television show, The Doctors, featured two families who have children with HH and their experiences with laser ablation surgery. The video clip also includes Dr. Nakaji who performed the laser ablation surgery on both of these individuals and his explanation of the location of the hypothalamic hamartoma as well as how the surgery works to remove the HH.

And if you missed the show, there are clips that are on The Doctors website which are available for viewing. Please click on the link below to see the full program. Or click on the individual links to view individual segments of the program. A brief 30 second commercial is shown before the individual clips.

This video does not work in Internet Explorer, so please use Firefox or Chrome to view the video.


Hypothalamic Hamartoma as featured on The Doctors, week of September 9, 2014

Dr. Nakaji History of Patients Patients in Studio