Archives for June 2009

Hannah is definitely becoming her mother’s daughter.  She is becoming fiercely independent, stubborn, and wants to be in control of what she does.  Don’t know who that would sound like in our family!  LOL

Physical therapy (Wednesday):  She had a great PT day with Ms. Pam.  Even though she was visibly tired from the lack of a morning nap, she was a champ and had a great time.  We worked on balancing while sitting, balancing against the big peanut ball, getting our knees up into the crawling position, and quite a few other things.  By the time the session was over, Hannah was exhausted, but she was smiling.  The best news was that Pam did her one-month reevaluation of Hannah’s progress, and Hannah has hit 4 out of 9 long-term goals already!!!!  THAT is my girl 🙂

Occupational therapy (Thursday):  We talked about her absolute refusal to let us put our fingers into her mouth, let us feed her with a spoon, etc.  This is where the words “stubborn” and “control” were first thrown around.  Pat, her OT, thinks that this is a protective measure because she is scared to get stuff in her mouth that is not on her own terms.  She has no problem putting anything and everything in her mouth as long as SHE does it. 

Pat gave her a long gummy worm to hold and eat, and she was very curious at first, but then she was in heaven.  Since she has no teeth yet, she was unable to puncture the worm.  We also tried a lollipop, and she LOVED that UNTIL one of us tried holding it and letting us put it in her mouth.  She would keep trying to grab it out of our hands!  So Pat suggested why try opening her up to tastes in her mouth with solid foods that she can’t break off like gummi worms, lollipops, cold zucchini, cold carrots with ranch, thick pretzel rods with salt, etc. 

We are also to take a week off from trying to spoon feed her anything.  We are still going to feed her the baby food in each of her bottles with formula, but we will let her experiment and try putting the food into her mouth.

Developmental Therapy (Friday):  Hannah was just not in the mood.  Even though Hannah loves Jenny, her therapist, she just wasn’t having any more manipulation and work.  It could be that she was getting used to her orthotics and her feet were feeling weird or that she just wasn’t feeling like herself.  But, Jenny is scheduled to come back this Monday, so we will try again!

Surprisingly, Hannah hasn’t really complained much about her new ankle/foot braces.  I was expecting a bit of a fight, but nope, it hasn’t happened!  

She does fight, however, when I put the stride-right size 4-1/2 extra wide shoes over her SureStep orthotics.  We are going to have to look out for other shoes because those just are so klunky!   Also, I think going from being barefoot and wearing socks all the time to trying out these big clown-like shoes (with the stride-rites on) totally throws her off. 

She probably feels like she has weights on her foot!

They are really cute, actually.  They have pink, purple, and yellow flowers on them with a pink velcro strap.  Hopefully, these will last for about 4 months (so we were told).  

She is to eventually wear them all day long except for naps and sleep time.  But until then, the first day is two hours on two separate occasions, then three hours on two separate occasions, four hours on two separate occasions, etc.

http://www.boston.com/business/healthcare/articles/2009/06/18/genzyme_plight_leaves_patients_uneasy/

The article came out that I was interviewed for yesterday afternoon.  I’m so glad to see the neuronopathic Gaucher’s disease is finally getting some awareness, but I wish it was not because of the Genzyme plant shutdown.  Again, here are my thoughts on the situation just in case it wasn’t clear in the article.

But, at least now there are more people who know how devastating a disease that Neuronopathic Gaucher’s Disease (as opposed to the type 1 Gaucher’s Disease) is for families.   I wish they had elaborated more on how children with type 2 and type 3 have severe and progressive neurodegenerative brain function decline and that type 2 children have a life expectancy of no more than 2 years and that type 3 children have a life expectancy of young adulthood — if they are fortunate.

It is such a misconception that all Gaucher’s Disease is a treatable disease.  Yes, for the 95% of those patients with type 1, it IS a treatable disease.  But for patients like Hannah and Kyle and the other GD23 patients, it is the only option we have of keeping our children comfortable and prolonging their lives in hopes to find a treatment that will cross the blood-brain barrier and remove the fatty particles from our children’s brain that are not being filtered out.  It angers me to no end that there are so many websites on the internet that report this falsity!

Our children our so incredibly underfunded and underresearched.  Genzyme’s Cerezyme has given up “hope” to help slow down the progression of the neuronopathic portion of the disease so that we can work to find a treatment!   Hopefully the Parkinson’s Disease community will open their eyes soon to see that our children may hold a key to understanding their disease and work with us!

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

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!!!!

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.