Rare Epilepsies Registry Survey Feb-March 2014

HH Families - please take a moment to fill out a 5 question survey for planning and development of the Rare Epilepsies Registry.

HopeforHH.org t-shirts

Lots of Updates on Ezri

This year has really flown by for our entire family. Up until now, Ezri has done fantastically in her first grade class. This is not to say she’s functioning at a ‘normal’ level, but she continues to make progress with her school work and grow socially. School is still hard, but she is reading simple books (she’s actually reading! and before Christmas was tested as knowing all her kindergarten sight words), is able to add single digit numbers and can (mostly) count to 100 (math is always hard). Considering at the start of kindergarten she could barely count to 10 on a good day, we can’t complain. She continues to say all sorts of funny things that remind of just how much is really going on inside that head of hers and how much she is so often unable to communicate to us. She also finishes our sentences all the time and when we forget words, knows them in an instant, and I find it so amusing as SHE’s the one with the speech delay.

As for seizures and emotional disturbances/episodes, she has been pretty stable. There have even been times when I have even wondered if her staring spells had disappeared because there had not been one that was noticeable to me in such a long time (of course I often only see her a few hours of her entire day, and they are subtle enough most people don’t see it). However she had a cold a few weeks back that increased her emotional difficulties and I definitely saw the (brief) staring a few times again. What we deal with for the most part is exaggerated emotions. Ezri can be super lovey and happy, like a gelastics happyness/giddiness, and she can cry at the drop of a pin like her heart is broken because of some idea she got into her head that isn’t even true (and if it was true, it definitely wouldn’t be worth crying over). She gets angry over things that don’t matter as well, things that she shouldn’t be angry about and normal kids wouldn’t be angry over, but she doesn’t quite have ‘rages.’ Instead, she sort of stands there with an angry, crumpled up face, maybe saying “I’m mad so and so……” and gets herself through the feeling. It can take seconds or minutes. She obsesses over the color purple and most people think she’s being cute, but it’s ‘too much’ if you know what I mean. This morning I was sitting on the chair and she came over to hug me and be sweet (it was that exaggerated lovey emotion). She then turned around and saw her sister and her brother sitting on the bed with Daddy and immediately got angry that there was no place for her to sit. It didn’t cross her mind for one second that she could ask them to scoot over so she could sit and absolutely remarkable how in less than a second she went from so giddy-happy to so angry. That’s exactly HH for you.

We have not seen the neurologist since August, which is probably the longest ever in Ezri’s lifetime. We forgot to make an appointment when we left the VEEG in Aug, they haven’t called with a reminder, and from our side, nothing has really changed so it didn’t seem so pertinent (though I do still need to make an appointment for a general neuro check up soon!). Ezri’s meds have been mostly the same. Halfway through the fall, after thinking on it some I decided to very very slowly start tapering her Keppra. We had taken her off cold-turkey for the last VEEG and nothing abnormal (except some slowing) had shown up on top of the fact that her typical HH episodes did not increase dramatically (some, but not dramatically) so I questioned how effective the Keppra still was for Ezri. It dramatically decreased the staring spells when she was 2, and on various other VEEGs, taking her off the Keppra had increased the spells, but this time it didn’t so much. Not only that, the VEEG ~2 years prior and 6months post the last surgery was epileptically abnormal whereas this one wasn’t. Maybe her brain was healing some? Starting about the beginning of November we have reduced Ezri’s Keppra from 10ml (1000mg) bid to 7.5ml (750mg) bid. Reducing a half a ml a month, sometimes going a couple of months at the same level (very, very slow!).

We have also had to make changes with her Lupron medication this year as the 3 month version she needs became completely unaffordable, even with *good* insurance and deductibles paid. She came to need a 30mg/3month version of this medication that retails for about $6,000 (so she wouldn’t have to get a shot every month – I’m not sold on the implant yet, and Ezri has learned to tolerate shots pretty well). Administered at the hospital, with a 90/10 plan left us with a cost of $600 every 3 months. Now, on an 80/20 plan, it’s a cost of $1,200 every 3 months. You would think there would be some forewarning about a medication cost that high, and not only that, the billing cycle for the first shot didn’t bill us until after the second shot had been given. Luckily, with some research, our new insurance, unlike the old one, allows us to get the medication from a specialty pharmacy (mail order) and since it’s an outpatient pharmacy charge rather than a hospital charge and a tier 2 medication, it only costs us $50 and is shipped overnight with free shipping straight to our front door. Can’t beat that–or the time saved of not going to the hospital. With my newly learned skills in nursing school (learning to do injections, etc.) and some helpful one-on-one training by the clinic nurse, I am giving her the shots. It is turning out to be in the least restrictive and most relaxed environment (doing it at home) that we could give her. So out of a really unfortunate situation, something very good has come.

Another appointment we had in the fall (Oct) was with Ezri’s neuro-opthamologist. She was diagnosed with optic atrophy, something that the doctor had been looking for each time we had been previously, but Ezri had been unable to sit still enough for her to see. And it means that her optic nerves are a different color, meaning they have damage, than they should be. People with optic atrophy characteristically have visual field loss and loss of color distinction, however because Ezri’s damage (from her 3 OZ surgeries where they had to dissect around her optic nerves/tract) occurred so early in her life she has basically healed and has no issues that the doctor can find. This is not to say that there aren’t or never will be, but for now her sight is quite good.

There are probably a million more things I could remember about this year, but this is more than enough for now – I hope all of you are doing well!

Running for Rare Diseases

2014-04-21 Grace Webster

The Boston Marathon will be run on Monday, April 21, 2014. LOUIS RIVOIRARD will run the Boston Marathon in Grace Katherine Webster’s memory(12-24-03 to 12-11-11). His goal is to increase awareness of Rare Genetic Disorders and to raise funds to support early diagnosis initiatives by the National Organization for Rare Disorders (NORD).

Grace was diagnosed with HH in April of 2005 when she was not quite two years old. She had surgery in 2007. She and her family have been the inspiration and support for the entire community of children, adults, and families who are living with HH every day. You can read more about Grace at the HopeforHH.org families page.

Grace Katherine Webster

Home Schooling

Long before Colby was diagnosed with HH, we had decided as a family to homeschool our two boys. For our family there were many reasons why we were choosing this path for their education. Our oldest child has a ton of energy and has a hard time sitting still but he was ready for school. Having school at home gave us the chance to adjust the school schedule to fit his abilities. He is excelling in school and is finally getting to the point that he can sit still and focus. We can go as fast or slow as needed. We also use a Christian based school that includes Bible studies and a focus on good morals and behavior.

When we found out about Colby and HH, we realized all the reasons for homeschooling our oldest applied for him also. Being able to work around his abilities, focus on areas that he needs improvement and push forward with the areas he does well is a blessing. Being at home also gives him time to nap and have time outs when needed. We also belong to a homeschool group with a good number on field trips, family activities or group lessons [...]

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Improvements with Zonisamide

2014-04-05 Faith

This is the name of the new medication Faith is on and has been on for about four months. We had a few years without medication as nothing was making any difference to her seizures and she seemed to have more side effects than good effects to the previous medication. Then as mentioned in previous blogs, she developed these new seizures whereby her head would turn to the side and she was unresponsive for a few minutes.

Around this time also, school had seen a big drop in her understanding and ability to retain information so that her school work was suffering. I had started to consider sending her to a special unit and leaving the mainstream setting.

We started Zonisamide in November. As with most medications over here in the UK, it was fairly new to our hospital pharmacy, so initially we had to wait for approval and policies to be written and agreed. But since she has started it, her new seizures have, dare I say it, gone, and her usual gelastic, partial complex have reduced, though occasionally when she does have one it can be a longer one, lasting few minutes. But still she’s gone from having [...]

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HH Family Getaway for 2015


We have heard from many HH families that would like to learn more about HH and speak with other HH families regarding their journey. With this in mind, we would like to have a HH family getaway that may include an educational portion to the weekend and a family picnic in the summer of 2015. Please let us know if you would consider coming and what city and state you will be traveling from. No commitment at this time, just want to see who would be interested and what part of the country/world they would be coming from. It will be nice to have families together that can understand the struggles and simple joys we experience everyday.

Please email Kathy Jensen or leave a comment below if you are interested. We look forward to hearing from you!

Lisa Soeby, Mauri Jones, and Kathy Jensen



2013-05-23 Faith - Copy

Rightly or wrongly we made the decision when Faith started school to send her to mainstream with support. She is now Seven in a couple of months and I do wonder if I made the right decision.

The School has been amazing and very supportive of Faith and her one to one support is outstanding, but I do feel the school day is too much for her in some respects. She appears to demonstrate more aggressive behaviour on a school week than what we are seeing on a half term week. I’m not sure if this is due to her being more tired, worried about her school work, frustrated with the school environment or a mixture of everything. On a recent cognitive assessment that was carried out by a community psychologist it has shown that Faith is behind in all areas coming out at a 4-5 year old. I hate that I might have put the extra pressure on her with her school life, by not sending her to a special unit.

When we initially made the decision, it was based on her being such a strong character enjoying to learn and she had already made lovely friends who would [...]

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We’re Learning to Live with HH

2014-03-05 Eli (Custom)

We have found over the last year that getting this rare diagnosis has made us feel very isolated at times. People (including us) don’t understand everything that HH entails and how it affects our daily life. We have been lucky to have such loving family to help us when they can, but they all live two states away. Our friends in Baltimore try to be supportive, but they all live their own busy lives. In some of our most stressful times where Jeff and I can really use a date night we fear calling a sitter who may have to deal with seizures or difficult behaviors. We also don’t want to spend extra money when dealing with medical expenses has made discretionary funds tight. We feel we cannot ask friends because that is just as big a responsibility and we don’t want to jeopardize the friendship. So we mostly deal with it on our own the best we can.

It’s even isolating when your local doctor and your treatment doctors don’t communicate well with each other or with you. You feel confused and abandoned.

People ask how they can help but we never know what to say. Yes we want/need [...]

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Epilepsia Article: Hope for HH–Cofounders stories


In the March 1, 2014 edition of the journal, Epilepsia, you will find the stories of the cofounders of Hope for Hypothalamic Hamartomas. These stories tell the struggles and triumphs that have inspired and driven three families to make the difference and to offer hope to the hundreds of children born with hypothalamic hamartoma. We all owe them a deep debt of gratitude for the work they have done with the families and with the medical community worldwide.



Family, Friends and HH


I am amazed It is already the end of February. It has been four months since Colby’s surgery and I have so many thoughts bouncing through my head. HH has changed our entire family. The way we look at life, the way we cherish every moment, the way we handle the melt downs. I consider our journey short so far, it has only been a year since Colby’s diagnosis. Everytime we go to see the doctor we learn more about HH. But with the answers we find many more “I don’t knows”. I have so many questions about what to do next, what is best for him, is that really a seizure or is he just being silly? In the past year I have had the chance to meet some of the HH families. I am amazed how talking to another mom with a child with HH can help calm my doubts. Having someone to compare notes, compare behavior and share everyday challenges makes the hard days so much easier. Just being able to read about someone’s story is helpful. I am grateful for our HH community. I know my strong days help those who are going through their bad [...]

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Update on Faith

2012-10-30 Faith and puppy01

This is a brief update on Faith, as it’s been so long since I’ve written anything. I think last time I wrote we were trying clobazam for the new seizures she was experiencing. It worked wonderfully for the seizures stopping them straight away. Sadly, it increased her outrages to an extreme that we could not cope with as a family. She was uncontrollable. As soon as the clobazam was stopped the outrages reduced to her normal more controllable outbursts. Unfortunately, the new seizures of head turning and being unaware came back with severity. Her neurologist suggested trying a fairly new drug on the market over here in the UK called Zonisamide. Thankfully this has worked amazingly, her new seizures have stopped and her usually gelastic, partial complex have reduced also.  Her rages and unpredictable, irrational behavior still persist, and she is still have episodes of incontinence. We are just relieved to have the new seizures under control.