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Thursday, February 25, 2010

Interesting drug trials that I'm watching

The amount of information I'm seeing out there regarding SMA research has just been exploding over the past year. If you have an interest in SMA research--or stem cell research in general, even--read on. I've tried to highlight the most interesting things that I've noticed lately, but surely for every one I see there are a dozen more exciting studies and papers that I am missing.

Last month saw the publication of a German study using lab mice with SMA. The drug is a potential treatment, not a cure, but the researchers seem to think it could be better than
CarniVAL, which the babies are currently taking on an investigational basis. The drug is called Saha, and it's actually already on the market for the treatment of cancer, which makes it much easier for us to get our hands on if it's eventually found to be effective in increasing strength in our SMA kids.

Also biotech companies Repligen, deCODE Chemistry, and Invitrogen (and others?) continue to study quinazoline.
This drug looks very promising and has "prolonged survival significantly" in SMA lab mice. Quinazoline is a new drug, and so is not currently on the market for any other indications.

Both of these drugs are in the pre-clinical stages of research, which my personal clinical research expert in the next room here tells me means that the research firms involved still have to apply to the FDA to begin their human trials. If their applications are approved, human trials could start in anywhere from two months from now to five years from now. Still, it's nice to know that someone is doing something, right?

My other interest is around U.S. stem cell trials in humans. As everyone knows by now, it took Barack Obama exactly 43 days in office before he reversed the embryonic stem cell research funding ban last year. Like it or hate it, the ban is in fact lifted, and federal dollars can now be used to support some heavy duty stem cell research.

I like it.

SMA is one of the conditions being seriously considered for stem cell treatment here in the U.S. It's been done in other countries, but documentation of these cases is nearly non-existent and what is out there is entirely anecdotal. It's hard for me to wrap my mind around the thought process behind injecting a child with stem cells, but not documenting or publishing the procedure and not having any before/after metrics to even show if the stem cells worked at all whatsoever. I certainly don't judge the families who have chosen to go this route--if you search my archives here, you'll see that if I'd had $50,000 to spare last December, I would have already been to China and back. Twice. Literally. The parent of a child (or children, heh) with SMA is a desperate parent, to be sure.

Here is a basic primer, sort of a Stem Cell Research 101.

So, even though embryonic stem cell therapy on humans has been performed elsewhere, it's not been done in the U.S. or done under the strict regulations of the good old Food & Drug Administration. I bet someone out there has some harsh words regarding the inefficiencies of the FDA, and while I'd love to hear your arguments, that's not really my agenda. Instead, I want to highlight some of the really amazing progress being made here in the U.S. to advance stem cell trials to human subjects. If we're smart, we'll all buy stock in these companies.

California Stem Cell and UC Irvine are planning their human trials for a motor neuron replacement therapy, derived from stem cells, on SMA type 1 patients to occur sometime this year. The Families of SMA have invested in this project over the years, and I can't wait for more information to become available on this trial. For SMA families, if you have heard of Dr. Hans Keirstead, this is the trial in which he is involved.

Geron, a San Francisco based firm, is planning to begin human trials on victims of spinal cord injury in 3Q 2010. According to their product pipeline, Geron is focusing on researching the use of human embryonic stem cells (hESC) in not only spinal cord injuries but also heart disease, cancer, and even diabetes.

This month, Maryland-based Neuralstem announced a human clinical trial at Emory University for ALS patients. The trial involves injecting human embryonic stem cells into the spinal cord, and the first patient has already received treatment. The researchers emphasize that they expect this only to slow the progression of the disease, but that it is not a cure. One notable fact is that it has taken Neuralstem only four months to go from FDA approval to their first injection of stem cells.

What do you think about any of this? Or if you know of something important that I've missed, share that, too.

Wednesday, February 24, 2010

My next project. Ahem--I'm talking to YOU, PVUSD.

My pregnancy with the twins was a high-risk pregnancy, and I fought to stay pregnant with them for thirty-six weeks and four days. I did this through enduring 11 weeks of bedrest, managing well my gestational diabetes, giving up general possession of my body (sigh), and taking the medications my doctors told me to take.

My twins' diagnosis of SMA was even tougher, but I fight for them by taking them to the best specialists around, in-state and out-of-state. And I fight for them by adhering to a strict germ-free lifestyle and by subjecting them to daily respiratory treatments and yucky-tasting medicine.

My twins needed expensive respiratory equipment last year--which our insurance company deigned to pay for--but before I could fight hard for that, the manufacturer donated it. All of it. Muchas gracias, Respironics.

My twins deserve power wheelchairs in order to move themselves. Studies show that toddlers are developmentally able to manage powerchairs as early as 18 months of age. We applied for their powerchairs at age 24 months, and I fought for eight months to get Lauren's powerchair. Kyle's paperwork was inexplicably put on hold by our insurance company, so the fight for his chair is just beginning.

My twins qualify for an amazing preschool curriculum offered by our state/school district. I met the staff there and toured the facility on Tuesday. The twins will love it! The adults-to-children ratio is 1:5; the classrooms offer challenging yet developmentally appropriate centers and activities; school bus transportation is included for free--including for wheelchair-bound children; there are physical, speech, and occupational therapists for every classroom. There are even a handful of "typical" children in each classroom to act as models for the rest, and those kids pay handsomely for the education and experience.



This special-needs preschool has two playgrounds, and neither of the playgrounds are wheelchair accessible. Yes, the school built especially for special-needs kids, with a playground designed by their physical therapists, excludes my children from participating in that activity, and by design. The playground, where arguably some of the most important preschool social experiences take place, is off limits to my babies due to their physical limitations. Wha...?

You want a fight? I can give you a fight. Are you familiar with the roar of a mother lion?

I fought for months to bring them into this world. I fight the daily fight to keep them happy and healthy. And--oh yes--I shall fight to get them the accommodations they need to board that playground and play with their friends. Reference this info from the University of Colorado and this useful advice from Kompan, a playground equipment manufacturer.

Paradise Valley Unified School District? Get ready. I am a whole-lotta woman to deal with, and you're about to meet me. You have 6 months.

It. Is. On.

Tuesday, February 23, 2010

Mars and Venus, I'm telling you.

Ways I've noticed that boys and girls are different:

The girl smells the flower.
The boy plucks every petal off and throws it all to the ground.

When the girl is finished eating, she pushes her plate out of the way and asks, "Dessert, please?"
When the boy is finished eating, he flings his cup and plate onto the floor and screams, "Moooooooooom!"

The girl lines up her Disney Princesses in an orderly fashion in front of her and talks to them.
The boy stacks up blocks and knocks them down over and over.

The boy maniacally sprays out messy zerberts.
The girl replies, "Please, don't spit on me."

I swear, I've raised them exactly the same--They're twins. I am with both of them together the same amount (read: all of the) time, treat them the same, I use the same language and vocabulary for both. And somehow, after 2.5 years, the girl seems to be 100% civilized while the boy is still bordering on neanderthalic (unless you're going to tell him one day that I said that, in which case I mean to say "the boy is just hunky dory with me").

What other examples do you have to share?

Monday, February 22, 2010

The Hero Next Door

Folks, there is another contest which ends this Friday, called Vote for a Hero Next Door. The sponsors of the contest will award the winner with $2,500, plus $2,500 for their charity. Nobody can argue that Victoria Strong isn't one of the biggest heroes we know, and so I ask for your support.

Victoria is the mom to Gwendolyn Strong, and since her baby girl's diagnosis, she has been 100% committed to the causes of curing and increasing awareness of SMA, and all her energy seems to go towards those ends. The whole of the total $5,000 prize, if Victoria wins, will go to the Gwendolyn Strong Foundation, their non-profit organization which funds projects related to SMA research and awareness.

Victoria and her family are role models for many of us dealing with children who have SMA. As parents, it's common to feel helpless when faced with this disease day to day. I can't stand around a laboratory and cure the disease, but I can ask you for your free and fast vote to put another $5k towards a cure.

As of Monday night, Victoria is 35 votes behind first place--not good enough! C'mon, do what the cool people are doing and vote for her. I'll buy you a margarita the next (or first, in some cases) time I see you, if you do!

Vote for a Hero Next Door

Friday, February 19, 2010

Dear World, meet our new wheelchair. And it's PINK!


We accepted possession of Lauren's new pink powerchair today. Oh yes, you heard me--we own it. Own. It. No 'temporary' demo chair; no 'this isn't quite measured to her specifications'; no 'I'm going to need have this back soon' business. It is OURS. Or hers, rather.

For the wheelchair savvy/curious crowd: It's a Permobil pediatric K450.

This behemoth weighs 311 pounds, cost somebody (not me) USD$32,000, yet the "owner's manual" is as thin as a pamphlet. That's humorous, right? if it wasn't MY responsibility to figure this thing out. And the best part is that the "troubleshooting guide" for this thing has 6 rows. Because surely only six confusing things will happen with this thing. Not.

Anyway, so let me share: This chair is four feet long and 2 feet wide (ugh). This wonder of mobility technology moves 5.2 miles per hour (she'll be like the Wii Fit doggie who sets my pace when I jog). The seat tilts back electrically, and with the seat-to-floor funtion the seat itself raises up to bar height (you know, for all the clubbing she has planned) and all the way down flush with the ground (think: preschool circle time). It can be driven while sitting as low as 2 inches from the ground. It has headlights and blinkers. And...what's this I'm reading, I have to check the air pressure in the tires "at regular intervals"? Are you kidding me? I did not sign up for that. I don't even check the pressure in my own tires. Sigh.

But the best part is that it is hers. And pink, don't forget the Pop Star Pink. Yeah, the color upgrade surcharge of $500 was thrown in 'for free'. I adore you, Josh from Permobil, and forever thank you for the free paint job. xoxo. To the rest of the world, I introduce...hey, wait, I need a nickname for this chair? Buttercup? Greased Lightening? Pepto-Bismol-a-licious? C'mon, I need your creativity, folks.

Ahh, don't get me wrong, we are beyond thrilled to finally have this chair. I am so relieved that all the Medicaid budget cuts and everything else haven't gotten in the way of my baby girl getting the equipment she needs to start really living her life. I am full of gratitude to a) Josh @ Permobil and b) the taxpayers of the State of Arizona.

Another quick update--the house we've been waiting four months to buy was scheduled to foreclose today, again. And today, again, BofA has extended their foreclosure date another 30 days. We're starting to wonder if flat out foreclosure on this family would be more helpful to us than continually extending the date. Because Lauren can't even use her new chair until we move out of this house. Sigh.

Wednesday, February 17, 2010

How we measure progress at our house

We had a fun physical therapy session this morning at our house. Can your kids sit up on their own and raise their hands above their shoulders? Whether they or can't, celebrate this achievement with me. The twins couldn't do this a year ago, pre-valproic acid drug therapy.

This is "item 4: Two hands to ear level" on the Modified Hammersmith Functional Motor Scale. (We were trying to get him to go from a sitting to a laying position, but he refused. We settled for an up-top high 10.)

Friday, February 5, 2010

And you thought you knew me...

In my real-world, non-virtual life, I work hard not to let the twins' diagnosis define me. I was once a pretty nifty chick to know--I know, that's hard to believe. But online, sometimes I feel like a broken record, ranting about SMA all the time.

One of the many things I hate about Spinal Muscular Atrophy is that it's so overwhelming, even for the families of kids who are affected less severely than others. I have reviewed the first page of this blog and noticed that I don't shut up about SMA these days. I'm not sorry about that, though--there is a lot to say and share about it. But for today, how about I share some non-SMA related trivia about myself with you?

1. I used to golf weekly, but haven't picked up my clubs in three years. Now, I'm determined to pick back up with my old golf league when they begin their weekly play in a couple months. That should explain all the time I spend putting and chipping and at the driving range these days. Also, it's nice to be the youngest person by about 30 years, as far as the eye can see--you see, I hit my balls during the weekdays when the rest of the people my age are working.

2. I love music. The TV is only on in his house if the twins are watching it or if the hubby is watching ESPN or Nat Geo. I love all kinds of music. Send me suggestions of more good tunes anytime.

3. I secretly love summertime in Phoenix just so that I can complain about the heat to everyone.

4. I wear yoga pants for everything but yoga. And the reason I don't wear yoga pants during yoga is that my foot slips off my leg in the tree pose, and the cuffs bother me when they hang down during the shoulder stand. I wear shorts for yoga.

5. My favorite thing to gaze at is the hot pink Barbie Corvette that Jenna received as a birthday gift. I wish I had had one as a little girl, and yes, I wish I had one now (but, you know, life sized).

6. In the last two months, I've experienced both a blog troll and You Tube trolls--people who trash talk my children because of their disabilities. Never underestimate the bitterness and misery with which some people are burdened.

7. I love wine. Especially red. Especially from Spain. Those Spaniards REALLY know what they're doing with that whole grapes in a barrel business.

8. After six years of Spanish classes, I thought I could speak it. Until I went to Spain and tried to. Turns out, I can't. Unless you can't either, and then I probably sound pretty good.

9. One of my eyes is brown, and the other is green. The difference between them is not subtle. And even after 33 years, I will never remember which eye is which color. I look in the mirror and don't even see it anymore. Sometimes, when someone new notices my eyes, I lie and tell them that they were the same color before I had Lasik done and who knows what happened.

10. I type 75 words per minute at 98% accuracy. (I just did a typing test, literally 30 seconds ago, so I know this is true.) Don't ever challenge me to a type off, because I will smoke you.

Wednesday, February 3, 2010

Lauren's First Powerchair

I've mentioned in the past that SMA overwhelms me sometimes. This week is another one of those times, I'm afraid. It's been a rough week in the SMA community. I'm trying to shake off this sour attitude, but for now, I thought I'd share a fun power wheelchair update. Lauren's chair has arrived! Actually, we're still waiting on the chest harness to be delivered, so the chair is sitting in a warehouse in Tempe at the moment. But we got to 'meet' her chair this week, and I am so psyched. I'm trying to decide on a name for her chair. My old favorite car was named 'Buttercup', but this sassyness-on-wheels needs a hipper name. I am accepting suggestions.

For those interested, the chair is a Permobil K450, and in Pop Star Pink, of course. Arranged for by my favorite wheelchair dude, Josh, to whom I've previously devoted a blog post.

And yes, this is probably the most expensive mainstream powerchair anywhere. I'm pretty sure that my college degree cost less, seriously. Without further ado, meet Lauren's chair.

Also, if you want to know why Lauren regularly points at the camera and calls it a pirate, it's because I use a Flip and there's some resemblance to an eyepatch. Well, I guess there is if you're two.