I talked to my contact on Friday who told me that Hannah and the other GD23 children will not miss any treatments.  These children (and all children under 18 who have Gaucher’s disease) are their top priority in terms of receiving the rations of what is left during their Cerezyme shortage.  The official announcement was posted at the National Gaucher Foundation website, and it lists Hannah as Group 1A in terms of being one of the most vulnerable patients.

Group 1: Most vulnerable patients

a. Infants, children and adolescents (less than or equal to 18 years old) and patients with type 3 Gaucher disease should continue receiving Cerezyme according to their current dose and frequency, without any interruptions.

I just had a feeling, deep in my heart, that Genzyme would take care of Hannah and the other type 2 and type 3 kids.  That’s why when a different Boston Globe reporter called me a few days after the original article appeared with Hannah and wanted my new reaction to the extended delay that was just announced, I just told the reporter “Let’s see what they do before we start to freak out.”   

Thankfully, this is one less worry that we have to deal with.  Hannah will continue to get her treatment without missing anything.

Understandably, this is HUGE news in the rare disease world.  You have one of the most profitable treatment production companies in the world being shut down.  Around 8,000 patients, including Hannah, are directly affected by this.   But it wasn’t done maliciously, and there was no intent ever to harm people.  It is a crappy situation that has happened, and we, the patients and parents, have to just suck it up that it happened and work WITH Genzyme towards a solution.  I don’t have the energy to get angry over something that is over and done with and that I have no control over.

I still have no idea how this is going to affect Hannah directly.  I’ve been talking to one of the people I have been working with over at Genzyme, and there really isn’t anything to share yet.  But she promised to touch base with me often, and she has already proven that today.

I keep getting asked “Aren’t you angry at Genzyme” for this?  Truth is, I’m not angry at them.  I’m disappointed that the situation happened.  I’m scared to death for Hannah.  But you know, Genzyme was the only one that researched and came up with a treatment for Gaucher’s Disease at a time when no one else touched it.  Even though this isn’t a cure for neuronopathic Gaucher’s disease, the Cerezyme directly has impacted the health of Hannah and the other nGD children in a positive way.

The people I have met at Genzyme have been absolutely wonderful and supportive.  From our case manager to our local Genzyme rep to their patient advocacy representatives… they have all just been fantastic.  They don’t act like a “big company,” and they have treated my concerns with Hannah on a very personal level, not as if she was just another patient.

So “no,” I’m not angry AT Genzyme.  I’m just disappointed with this situation and very scared as to how this is going to affect Hannah’s life.  I just need to know how Genzyme is going to handle the remaining inventory and the lack of inventory.

Related post at the Children’s Rare Disease Network

I have emailed all of Hannah’s main physicians, and a couple speculate that Hannah should be considered a priority patient because of the severity of her disease and her age, but they have no control or say in the distribution of the Cerezyme that is left.   But if they run out of Cerezyme, even if she is a priority (again, purely speculation, no proof), you can’t give her a treatment with a drug that doesn’t exist!

I’m scared to death that Hannah will miss a number of treatments and that her condition is going to go into a decline.  She worked so hard for the past 4 months worth of treatments, and we have seen such a huge improvement in her attitude, ability, and just her overall wellness.  Even though the Cerezyme doesn’t cross the blood-brain barrier, it definitely has worked for her spleen, liver, lungs, bones, and other organs.  Her previous bloodwork and reduction in spleen size is proof of that.

How does this happen?  How can a company as huge as Genzyme catch a virus that would completely shut down an entire factory?  After talking to our local genzyme rep, it does seem as they are working as fast as they can to figure out exactly what they are going to do and how they are going to handle all 5000 of their Gaucher patients (of which only a couple hundred are GD23). 

Based on this Bloomberg article, “The shutdown of the plant, Allston Landing in Boston, will cause a shortage in August of Cerezyme, a drug that treats Gaucher disease…”.   August is less than 2 months away!

Doesn’t Hannah have enough strikes going against her already with this disease?!  Please, please someone give her a break!!!!

http://www.google.com/hostednews/ap/article/ALeqM5hYFudhNd3uLPeN-pYJsu1dVT62wwD98RSO5O4

NEW YORK (AP) — Genzyme Corp. said Tuesday it shut down a key production facility as it cleans viral contamination that has been slowing down the process for making supplies of two biotech-based drugs.

The biotechnology company said the virus, which is not harmful to people, was detected in one of six bioreactors at a facility in Allston, Mass., and as a precaution, it will shut down until the end of July to properly clean all of its equipment.

Bioreactors are used in the production of living cells, which are in turn used to make the biotech-based drugs Cerezyme and Fabrazyme. Supplies of those drugs will be constrained because of the shutdown.

Fabrazyme treats an inherited disorder known as Fabry disease, which is caused by the buildup of a particular type of fat in the body’s cells. Cerezyme treats Gaucher disease, an enzyme disorder that can result in liver and neurological problems.

Genzyme said it has confirmed that the virus was the cause of two previous declines in cell productivity at the Allston facility and another one in Geel, Belgium. The company is adding steps to increase raw materials screening and viral removal processes. Meanwhile, Cerezyme and Fabrazyme inventories are not sufficient to meet global demand.

Genzyme is still measuring the effect of the delays on Cerezyme, but the company expects temporary supply constraints to begin in September for Fabrazyme.

“The patients who need these therapies are our priority,” Chairman and CEO Henri A. Termeer said in a statement. “We are confident in the quality of the products produced in Allston and in our ability to resolve the issue affecting the plant.”

In a separate statement, BioMarin Pharmaceutical Inc. of Novato, Calif., said the contamination will not impact production of Aldurazyme, which treats an enzyme disorder and is marketed by Genzyme.

“We are unsure how quickly the facilities will be able to replace ‘lost product,’ thus we can only estimate what the value of the six-week delay is,” said Deutsche Bank-North America analyst Mark Schoenebaum, in a note to investors.

There is one family that I have come to know over the past few months who has a son just under 2 years old.  He is just a gorgeous little boy!  Unfortunately, they had recently retyped his classification from type 3 to type 2 due to an updated DNA sequencing, I understand.  After talking to his dad, I was friggin’ PISSED OFF that this was possible!  Type 2 only has a life expectancy of “up to” 2 years old!  This baby boy was already almost there.  I spent that entire afternoon angry and doing whatever I could to find information on researching or just anything.

There is so little out there research wise for our kids.  It sucks.  There has to be a way to change this.  I will FIND a way to change this. 

We still don’t know if Hannah has type 2 or type 3.  Last we were told by Dr. Schiffmann, Hannah’s neuro, that it looked like it could be a “slow type 2″ or a “severe type 3.”  She is the “unknown” Gaucher’s baby.

Please keep these families in your thoughts and prayers.

Be at Peace, Maddie.   Please take a moment to share your support.

A personal message from John C. McGinley, actor and father of Max, who lives with Down Syndrome.

Hi, I’m John C. McGinley. I’m an ambassador for the National Down Syndrome Society, and today I’m teaming up with Special Olympics to bring you a message that’s important to me.

So many times in life you are asked to change…

Change your clothes. Change lanes. Change jobs. Change the sheets. Change flights. Change your tune. Change horses midstream. Change your latitudes and your attitudes!

Change, and the ability to adapt, is to the human condition as air is to the lungs. We change, and in the doing, we thrive!

In fact, we just elected a president who promised, above all else, to “change.”

What if, on March 31, you elected to change the way you use the words “retard” and “retarded”?

Hardly seems like the largest of sacrifices. Not when you consider the changes in language that you have, so willingly, already elected to integrate into your vernacular. You no longer use the words nigger, or kike, or faggot, or jap, or kraut, or mick, or wop.

Why would you? Why on earth would you? Those are all words that hurt. Those are all racial and ethnic slurs and epithets that perpetuate negative stigmas. They are painful! And that is not okay. It is wrong to pain people with your language. Especially, when you have already been made aware of your oral transgression’s impact.

Make no mistake about it: WORDS DO HURT! And when you pepper your speak with “retard” and “retarded,” you are spreading hurt. So stop it. Stop saying “retard” and “retarded.” Those words suck! You are better than that and you definitely do not need to be “that guy.”

There is no longer any acceptable occasion to lace your dialogue with the words “retard” and “retarded.” Without fail, those words are the stuff of hurt. They, straight up, are. So, stop it! Stop using the “R-word.”

The 7 million people with intellectual disabilities (around the planet) who are on the receiving end of this hate speak are genetically designed to love unconditionally. These “retards” are NEVER going to return your vitriol. Ever! So what could possibly be the up-side of continuing to use the “R-word” in your daily discourse?

We love you. We do!

And, just in case you missed it and you need an extra hug? We love you!

You do not need to love us in any kind of reciprocal fashion. You don’t. (It’s not that kind of bargain.)

But, how about on March 31, you elect to change? A word? Two stinkin’ syllables?

On March 31, join us and “Spread the Word to End the Word.” And the word is “retard!” It HURTS! So help us to cut it out.

Thank you! We do love you!

John C. McGinley

* Learn more about Spread the Word to End the Word
* Take the pledge to stop using the R-word
* John C. McGinley on “The Bonnie Hunt Show”

If you are blogging today in support of Spread the Word to End the Word, we would love to know. Simply leave a link to your post in comments here.

Not blogging…you may also leave a comment of support on this post.

I have had no luck yet finding out.  There doesn’t seem to be a website for Neuraltus that I can find.  I have emailed two of the founders at their respective hospitals.  I have also emailed two of the venture capital partners.  I cannot find any contact information for the CEO they mention in the article, Ari Azhir.   I found a phone number for the company Azhir works for, but when I called it, it was disconnected (probably old).  I’ll give these emails a couple of days.  Then, if I don’t get an answer, I will start calling around. 

I just need to know if this is hope for GD2 or GD3… even if they can’t give me details yet, just let me know which GD it is for.  If anyone can help find out, I would so appreciate the assistance!

• I’m angry that Hannah is sick with this type of disease.  She is such a beautiful, sweet baby. 
• I’m angry that I am constantly worrying about her prognosis.  I admit that I am cherishing the moments more than I probably would have, but photos and videos can’t capture her soft touch, her caress, or her genuine smile when she sees me.
• I’m disappointed that certain people I hoped to be able to count on for help and support have not only not been there for us but basically have disappeared from our lives.  There are even quite a few that I haven’t even heard from since we found out Hannah was sick.
• I’m angry that I am no longer the “in touch” mom I was.  Last year I was room mom for both Ethan and Abby’s classes and loved it.  I knew all the parents and knew all the kids.  This year, I couldn’t even tell you 1/3rd of the kids’ names in either of their classes.  I can’t attend all their functions, and I admittedly even missed on of Ethan’s recently because I just forgot about it (and feel horrible since all but two kids had their parents show up).
• I’m disappointed that I’ve let myself go to the point where I can’t even stand looking in the mirror anymore.   I actually got a manicure and a haircut before we left for Vegas.  Would you believe it had been almost 4 months since I had my rat’s nest of hair cut?  I can’t remember the last time I got a manicure before last month.  I felt pretty and feminine — I actually felt like a woman!
• I am angry because of our financial situation.  We were so self-sufficient before this situation.  Two incomes (even though mine was part-time so I could be the involved mom), nice small savings.   Now, we are down to just one income and our savings is dwindling down to make up for my lost income.  I’m trying to get writing jobs, but it is very difficult — I am thankful I have been able to get two paid articles, however!

I am extremely thankful for, however, those people who I didn’t know would be there for us who have come through for us with flying colors with all kinds of support.   You know who you are.

Take a moment to read her latest post, as it just pisses me off to no end why people aren’t willing to be more compassionate and willing to help a stranger save their child’s life!