Walk With Me

Saturday, November 2nd, the same day as the charity gaming event, there will be a 5K Walk for Armand’s Hope in Lewisberg, OH.  Registration is $20.00, and forms can be printed from this PDF.  More information can be found at the Tri-County North Community Association website: http://www.tcncommunityassociation.com/5k-walk

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Who Wants To Support A Nerd?

On November 2nd, 2013 will be the annual Extra Life fundraiser, which sort of works like a sponsored run, but for gamer nerds like myself. You make donations to “sponsor” me (all tax deductible), and those donations go towards Children’s Miracle Network hospitals — mine will be directed towards Cincinnati Children’s Hospital, where Armand gets much of his local treatment.

Dear Friends and Family,

I’m on a mission to save kids and I need your help.My local Children’s Miracle Network Hospital treats thousands of children each year, regardless of their family’s ability to pay. These kids are facing scary stuff like cancer, cystic fibrosis, and injuries from accidents to name just a few.

On November 2nd, 2013, I’ll be participating in this huge worldwide celebration of the social impact of gamers of all kinds from video games to board games and tabletop RPG’s! It’s my sincere hope that you’ll find it in your heart to support my efforts with a monthly pledge or one-time gift that will go directly to my hospital.

Your donation is tax-deductible and ALL PROCEEDS go to help kids.

Last year, Extra Life raised more than 2 million dollars to save kids, but in 2013 our goals, just like the needs of the kids we serve, are much, much higher. I can’t do this without your help. Donating online is safe and easy! To make an online donation please click the “Support This Participant” button on this page.Thank you for caring for our kids!

Go here to donate:  http://www.extra-life.org/index.cfm?fuseaction=donordrive.participant&participantID=56022

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Charmed, I’m Sure

My family and I are attempting to start a larger-scale charitable organization based around helping fund research into treatments and cures for rare diseases, and helping parents, patients, and family members find these treatments.  The organization will be called the Elise Cook Foundation For Rare Disease Research, named after my great-grandmother who worked caring for sick children for most of her life.

We are attempting to get seed money for this through grants and donations, but also through sales of a special charm we have made up.

Hayes Medalion 1

 

On the front is a labyrinth, a symbol that appears to be a confusing maze, except that there are no stops or wrong turns, just a continuous winding path to the center, where you find your heart’s desire.  On the back is the phrase “To The Center For The Cure; 7000 Rare Diseases”.  The charms are approximately 1″ in diameter, and comes in two flavors: silver and pewter.  Prices and availability will soon be forthcoming, but I am sending this out to gauge interest from those who already follow Armand’s blog.  If you would like some or know of those who may, contact us through Armand’s facebook, or through armandshope at gmail.

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Eye Cee You

We are up early after a relatively uneventful night, getting Armand his in-clinic eye exam.  He did have on seizure back at the hotel, and Lindy was awakened around 4am by the sounds of a nearly-pukey Armand, but some hands on the tummy calmed him down before he vomited.  His nose is a little stuffy with some dried blood (he was intubated through the nose while his dental work was being done).  He’s in an okay mood for being up early, and did well with the eye exam (it literally took place while I was writing this paragraph).  She can’t get an accurate measure of his vision because he’s not cooperating, but she can tell that he does have good vision.  No problems with his optic nerve showed up in the exam yesterday, and no cherry red spots.

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Armand’s Big Day

I’ll keep updating this post as the day goes on and we talk to more doctors before or after each procedure he’s having today. First he’ll have an MRI, then up to the OR for his lumbar puncture, and eye exam under sedation, and (new this time around) a dental cleaning under sedation, which will also include x-rays and possible gingival contouring (basically, using a laser or heat to cut his gums back where they have grown around his molars). Continue reading

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If You Have A Special Needs Child….

….and are in need of a good proper stroller for them, visit the MacLaren website and check out the Major Elite push stroller. Use the code MAJOR to get 25% the chair and all accessories, good until the end of August.

http://www.shopmaclarenbaby.com/Major-Elite/MV000026,default,pd.html?dwvar_MV000026_color=Scarlet-Charcoal#q=major%2520elite&start=1

Yep, it’s been a while since I posted, so….

In other news

* Armand broke his leg a couple of weeks ago.  It’s a “buckle fracture“, possibly caused by having a seizure while he was in his Mustang walker.  I actually caught the last 1/3 of it on video and have it uploaded to Armand’s YouTube page.  He never gave any indication of pain until the next morning.

Please ignore the music in the background.

15658_561968073859997_1052121955_n[1]This means that Armand won’ t be able to do any more walking in the Mustang until after his cast comes off, and even then he has to be cleared for weight bearing.

* We leave for Minneapolis again next week.  Good times.

* Armand also starts back to school the following week.  He will luckily be in the same class that he was in last year, at the same time with the same teacher.  Personally, I feel that this kind of stability will be great for him in the long run.  I actually have had a whole blog post on this brewing in my head for about a month or so right now, I just can’t seem to sit down and get it out.  Hopefully I’ll post it later this week.

* All in all, Armand’s had more good days than bad this summer.  If his sleep schedule would just settle down (at least once or twice a week, he’ll go the whole night and into the next day without sleep) and his seizures would come better under control (he’s down from 5 per day, every day, to 5-6 per day once a week and almost none the rest of the time), he’d be in great shape.  On his good days, we see a lot more wiggle, a lot more emotion, much better attention.

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Article: Gene Therapy Coming of Age?

Experimental gene treatments are being used to treat neurodegenerative rare diseases. I’ve posted before about how viruses are being used to encode new, “corrected” genetic strands in patients with diseases of the brain.  Now, scientists are using these viruses to treat the patient’s own hematopoietic stem cells, which are then tranfused back into the body.

Three seperate diseases have now been treated with some success.

In 2009, Aubourg and colleagues published results from a pioneering trial in which they used lentiviral-based gene therapy on HSCs for the first time to treat X-linked adrenoleukodystrophy (ALD), a neurodegenerative disease that affects young males. Roughly 2 years after the treatment, many of the patients’ immune cells carried the corrected the gene, and disease progression had stopped entirely.

[…] a team led by TIGET’s Allesandra Biffi treated three children with a rare lyosomal storage disorder called metachromatic leukodystrophy (MLD)—a neurodegenerative disease caused by mutations in the gene that produces the enzyme arylsulfatase A (ARSA). There is currently no successful treatment for MLD and patients usually die within a few years.

The researchers transferred a functional ARSA gene into HSCs taken from nine pre-symptomatic MLD patients. Analyses performed 2 years after treatment with the modified HSCs in one patient, and after 18 months in another two patients, revealed that 45–80 percent of the blood cells carried the functional gene. The enzyme was present at normal, healthy levels in these cells and in the cerebro-spinal fluid, where it was completely lacking before. What’s more, long after the symptoms would usually have manifested, the progression of the disease had been stopped in its tracks.

In a separate study, a group led by TIGET’s Allesandro Aiuti used the same approach to treat three children with Wiskott-Aldrich Syndrome (WAS), a rare immunodeficiency disorder caused by mutations in the gene encoding a protein called WASP. Analyses carried out 20–32 months after the treatment showed that 20–25 percent of targeted blood cells were genetically corrected; the immune system had largely been restored in all three patients; and symptoms, such as recurring infections of eczema, were reduced or had disappeared altogether.

There is the full, easy-to-read article here.  I wonder what this might mean for GM1 and other related disease patients in the near future.

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