So few seem to care about rare disease…why?

Vote for the Top 10 Ideas for Change in America

I don’t know why I am taking this so personally, but rare disease has dropped down to 11th place on Change.org’s program where they will use their huge supporters and connections to assist those top 10 causes – We went from number 1 down to number 11!!

People seem to care more about  chimpanzees, prison time for good behavior, and gardens in kid’s schools than they do about saving the lives of innocent children who are dying from and surviving with rare diseases!  Seriously!  It really is frustrating me because I…just…don’t….get…it!

Do people just see the link and say “well, someone else will do it?”  Do people who vote on this really care more about freeing chimps than saving children?

We only have a few hours left, 15 or so I think.  I hope to all hope that we can make the top 10.

Would you please, please, please vote and help me spread the word. We need to make that top 10, we really do.

Important Cerezyme update from Genzyme!

Hannah is going to get her treatments!! 

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.

Cerezyme Shortage and Genzyme update

Would you believe I have spent the last three hours talking to various people about this including a reporter from the Boston Globe?

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

Where does Genzyme’s Cerezyme shutdown leave us?

I have no friggin’ clue! 

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!!!!

Genzyme facility shut down! Not enough Cerezyme for global demand?!

I already have a message into my contact over at Genzyme.  I want to find out how this is going to affect Hannah’s treatment schedule and the other GD23 kids!

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.

What the hell? THREE new GD2 kids, just not right!

In the past month, I have been contacted by three families of children who have recently been diagnosed with Gaucher’s Disease type 2, the fast progressive form.  It breaks my heart that there are more babies even a bit younger than Hannah is now going through this hellish disease.  

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, Madeline “Maddie” Spohr

After getting back from a wonderful week-long vacation away from Gaucher’s disease, therapies, and the stresses of researching to find who is working on understanding Hannah’s condition, I came home to read about little Maddie Spohr.   My heart is breaking for Heather, Mike, and their families and friends.

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

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