Tuesday, 1 November 2011

Jack Skellington, JHD and the Power of Love

Still here, still sick as crap. I feel on fire, my chest hurts from coughing so much and I don't even care that I'm not at home right now

J went home for a few hours this afternoon. She looks exhausted and she's not going to sleep very well here. So here I am sitting in the hospital with a bunch of good matured nurses in brightly colored costumes. My roommate and I watched the film The Nightmare Before Christmas, the Tim Burton Halloween themed claymation musical.

"What's This?" 
The Soundtrack from The Nightmare Before Christmas

J came sometime after the film and I woke up surprised to see her back here. She said something about not being able to sleep, and I understand that, remembering all too well when she was  on a cruise once.  That was a cruise, with nothing to worry about. Well, except those pesky ships known as the Titanic and Lusitania but they were flukes, right?
Titanic-The Sequel

Can I only imagine what life would be like if our roles were reversed the last few days? I'd be freaking out. I don't do deal well with things in my life being out of control.

The wink wink nod nod J is getting from the nurses when she asked when she must leave isn't helping my mind quiet down. She asks once and I feel it in the air like one feels the heat off a burning stove. I never thought I'd say this but I hate being alone. The only thing I hate more is not making the decision myself. Like I said, I'm a control freak in some ways. I hate having to change my routine. I hate being scared. I also hate feeling confused with a million pairs of eyes on me.

[insert here]I talked to my Neuro prior to dinner time and asked him if they were aware of this tendency of mine to be OCD. He said he had notified them of that portion of my medical condition. That's likely where I got that impression they are giving me a bit of leeway as long as I don't abuse the visiting privileges. It would make sense, as my RN's job would be easier as well. [end insert]

Oh, back to watching the film. Suddenly I started smiling broadly ear to ear, and my twenty something roommate asked what I was smiling about. I told him I was thinking of a friend of mine, Jan. Jan's daughter Keely had loved that movie. I met Jan online through Facebook's HD Community.

 Last year, Keely spent her last Halloween dressed as her favorite movie character, Jack Skellington. You see, she was dying of Juvenile Huntington's Disease.

To put it in basic terms JHD is HD on steroids. I have several people who suffer from JHD on my Facebook and they are my true heroes.

Off to sleep here, I'm feeling wretched.

Please take a few minutes and educate yourself on this rare version of HD. Highlights are mine. You can learn more at the reference link at the bottom.

What is JHD?*
Juvenile Huntington’s disease is a Neurological degenerative terminal brain disease…JHD refers to Huntington’s  disease that has an age of symptom onset ranging from infancy to 20years of age.
JHD  takes away all of a child’s abilities over time, so for a child it makes it hard for them to do simple things like go outside to play with their friends on the playground or even blow out their birthday candles. There are many milestones that these kids might never experience.
There is NO CURE.
Please help us find one.
Children who develop symptoms at a young age have a variation of differences in the disease progression than that of adult onset. Often the disease progresses more aggressively and their lifetime is anticipated to be anywhere between 3 to 10 years once diagnosis has been made ,However this does not always hold truth for all cases. Symptoms may come and go and the age of development and presentation of symptoms, combined with the lack of professional experience with these kids might be factors in untimely or miss diagnosis and lack of understanding the child’s full needs.  This can contribute too many difficulties for family and professionals caring for these children.
Only an estimated ten percent of people at risk for Huntington’s Disease develop the juvenile form, but it’s hard to get accurate numbers.  There’s so many more then that!! The younger the onset, the faster the progression. Which makes it harder for family, friends and even doctors to cope with.
A huge question might be when should we be concerned that my child might have JHD? Due to the variability and the truth that children  are developing and growing, and many other factors, the best answer would likely be “when there is an obvious change”, particularly one that is impacting the child’s quality of life. There is approximately a 40% chance that someone who develops JHD will develop epilepsy. Some ways to tell if someone may have JHD are if they have a decline in school, behavior issues, personality changes ,impulsiveness, memory loss, difficulty with comprehension, balance  or movement difficulties. The list could be quite long.
A significant question might be when should we test the child? This has been a controversial question. The response will vary dependent upon who you speak with. NO one wants to give a child a terminal diagnosis. A diagnosis is a quite serious step, keep in mind, diagnosed or undiagnosed if someone is symptomatic their genetics will not change. Taking the time to be sure everyone in the immediate family is as prepared as they can be is likely invaluable, while weighing the child’s care and needs for treatment in this process also. An experienced genetics and or pediatric neurology team is important in assisting the family along with involving a social worker with the HDSA.
It’s always important to not place expectations on a child with JHD, adapting their world to them, vs. adapting them to the world.  Keeping in mind that all changes are not necessarily permanent, a child may be unable to walk one day and then the following day walk again as if there had never been an issue. MOST IMPORTANTLY to keep in mind that just because the child is terminally ill with a degenerative condition DOES NOT mean there is no HOPE or that nothing can help. Diagnosis is a new beginning NOT an end.
Children with JHD are quite special young people with invaluable lessons to teach anyone who’s life has been touched by these kids.

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