Rare Disease Day February 28

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 […]

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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 […]

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Making Progress and Call to Action for Laser Ablation Petition

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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 […]

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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 […]

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Rare Epilepsy Registry (REN) is Launched

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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

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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 http://www.thedoctorstv.com/videos/laser-ablation-surgery-for-brain-tumors History of Patients http://www.thedoctorstv.com/videos/laser-ablation-surgery-for-brain-tumors Patients in Studio http://www.thedoctorstv.com/videos/laser-ablation-surgery-for-brain-tumors

 

Adventures in Houston and Home Again

2014-09-06 Eli-600

We recently came back for our (hopefully) last trip to Texas Children’s Hospital. We met with both Dr. Curry and Dr. Wilfong. They think that the hamartoma (tumor) taught other parts of the brain to seize so now what is left of the hamartoma is not causing any problems, it already did the damage that continues to cause Eli to have seizures. Secondary epileptogenesis. Dr. Curry hasn’t seen this complication yet in the surgeries he has completed and thinks it is really rare. Eli continues to remind the world he is unique! These new seizures could be chronic or could fizzle out over time. No way to know. Just have to wait and see. Ugh.

The ketogenic diet is amazingly hard on the road even though we thought we were prepared. Nothin like asking to use the microwave at McDonalds so that Eli could get his special food warmed up. They put it in a McDonalds carton for him. But he still wouldn’t eat it. “Too Oily.” Yep. Everything is too oily on this diet…

We got to go do two things that were planned for our road trip that we are still so disappointed we couldn’t do. (It’s time […]

Continue reading Adventures in Houston and Home Again