September 3 Deadline!

 

Enzyme Replacement Therapy - The stuff works!

There are only a few more days left to help Allyson Lock and other New Zealand patients out. September 3 is the deadline to submit an email to PHARMAC’s Review of Exceptional Circumstances praising the effectiveness of enzyme replacement therapy (ERT) for Pompe patients.

You have read on my blog about the progress I’ve made along with the progress of my friends Maddie and Emma. There are lots of patients out there who are taking back their lives because of ERT – the stuff works!

Please take 10 minutes to send an email urging the NZ government to approve this life saving treatment for their citizens. We have already received a lot of positive feedback, but we need more people to add their voice to the cause.

All submissions must be made by September 3 to be considered during the review process.

Thank you to everyone who has already written and to those of you who will! Your email can make a difference.

Still Fighting for ERT in NZ & Still Need Your Help!

 

Allyson needs ERT to help her fight Pompe disease, an email from you could help make that happen.

On July 28, 2010, I posted an entry (“10 Minutes”) asking everyone to write letters to New Zealand’s Minister of Health, Hon Tony Ryall on behalf of Allyson Lock. Several of us received standard letters of response from Ryall’s office. Yesterday, my best friend received a “personal response” from Ryall – I have copied the text of the letter below. (Thank you V!)

In the letter, Ryall encourages us submit information directly to PHARMAC, which is the NZ government agency that decides which medicines used in the community are publicly-funded.

“PHARMAC is currently consulting on potential changes to its EC policy. You, your friend Monique or Ms Lock may like to make a submission on the discussion document. It can be found on PHARMAC’s website (www.pharmac.govt.nz). Select ‘Patients & Consumers’, then ‘Have Your Say’ and “EC Review’.”

CLICK HERE TO SUBMIT NOW

Hurry! The deadline to submit is September 3, 2010! I have already sent my letter, now it is your turn.

 

Ryall’s letter…

Dear Ms. Shannen

Thank you for your email of 29 July 2010 about enzyme replacement therapy (ERT) for the treatment of Pompe Disease.

I am advised that Myozyme (alglucosidase alfa) was registered by Medsafe for use in New Zealand in April 2009. However, this medication is not currently funded by PHARMAC, the government agency that decides which medicines used in the community are publicly-funded. Ms Lock’s GP, if they have not already done so, can make an application to PHARMAC to fund the medication for her under the Community Exceptional Circumstances (CEC). PHARMAC advises that CEC funding is only available in situations where the disease/condition is rare, or the response to treatment is unusual, or there is some other unusual combination of clinical circumstances. PHARMAC defines ’rare’ and ’unusual’ as less than ten cases nationally.

Where one of the above criteria is met, CEC applications are then further examined taking into account the following considerations:

• the suitability of the pharmaceutical for which funding is sought;
• the clinical benefit;
• the cost-effectiveness of the treatment; and
• The patient’s ability to pay for the treatment.

Where the cost of a treatment being applied for exceeds $15,000 for the total course of treatment, PHARMAC’s 9 Decision Criteria are also considered.

PHARMAC received two applications last year to fund Myozyme under CEC. The Exceptional Circumstances Panel sought further information on these applications and will consider any other applications it receives for new patients applying for ERT for Pompe Disease.

PHARMAC is currently consulting on potential changes to its EC policy. You, your friend Monique or Ms Lock may like to make a submission on the discussion document. It can be found on PHARMAC’s website (www.pharmacy.gov.nz). Select ‘Patients & Consumers’, then ‘Have Your Say’ and “EC Review’.

The Government has provided an extra $40 million in 2009/10 and $20million in 2010/11 for funding medicines used in the community, but it is not possible to subsidise every medicine available in New Zealand.

Yours Sincerely

Hon Tony Ryall

Minister of Health

Saves Lives!

Let your voice be heard! Patents in New Zealand don’t have to be dying from Pompe, they could be receiving enzyme replacement therapy instead and be FIGHTING POMPE!

Please take 10 minutes to make a submission to the discussion document. Thank you!

The First Lumizyme Infusion

June 16, 2010. Today I had my 7^th infusion. What made this infusion different is that it was the first official Lumizyme infusion since Genzyme received their FDA approval to produce the drug commercially.

 

Those of you who have been following along and keeping track of my infusions know that today is not my normal infusion day. The University of Florida wanted to be one of or the first to administer the newly approved drug and asked me to be the first recipient. They were in a race with Duke University to be the first to infuse Lumizyme. Duke ended up not administering Lumizyme today, but rumor has it that a small town in New York had an infusion today too. But I’m pretty sure UF is happy to just hold the bragging rights over Duke.

 

The hospital sent a car to drive me to and from my infusion, which made it nice because it turned out to be a really long infusion day. I arrived at Shands Medical Center at UF and met with my study nurse Linsday Falk and Dr. Barry Byrne. I had new paperwork to go over and sign, Dr. Byrne said it was essentially like starting all over again. Representatives from the University’s Media Department were on hand to record the “historic” event. You can view the article here and video footage should be available on the UF website later.

 

Paula Graham, Medical Science Director Genzyme, Dr. Barry Byrne, Monique Griffin, Study Coordinator Lindsay Falk BSN, RNC, Ivy Kelly RN, Sarah Kulke, MD, Director, US Medical Affairs Genzyme.

Representatives from Genzyme were also on hand because months earlier they had scheduled a teaching seminar at the University. So it was just a coincidence they were there for the first Lumizyme infusion. They were very gracious and excited to see all Genzyme‘s hardwork in action. It was a real treat to have them there along with, Dr. Byrne, Lindsay, and the Media Department.

It was a little strange to have so many people and cameras in my infusion room, but my life hasn’t been exactly normal these days anyway. Later in the day I spoke with a reporter from the Gainesville Sun and her article can be viewed here.

Everything went well and it was a pretty exciting day for Dr. Byrne and his research team, the University, Genzyme, and of course me. I was happy to be part of it and glad the chose me to receive the first Lumizyme infusion.

They said I may receive further media requests, but the UF Media Department will help field those for me. What a day! If nothing else, I hope the day brings more awareness to Pompe Disease and the amazing work Dr. Byrne and the folks at Genzyme are doing.

Today’s even almost didn’t happen. We all had to work around the clock for the week leading up to today in order to put everything in place. Phone calls, emails, faxes were going non-stop between UF, Genzyme, myself, my insurance company, the pharmaceutical distributor, and the wholesaler. I didn’t receive the final ok that today’s infusion was going to happen until 8:30pm last night.

In less than two weeks I will return to UF for my next Lumizyme infusion. Somehow I think it will be less eventful.

Photo by John Pastor, University of Florida News and Communications

I Will Get Treatment!

My trip this week to Mayo went very well. I met my new doctor and he has scheduled me for more tests and meetings with a physical therapist and the pulmonary specialist. He is also weaning me off of one of my headache medicines.

The real good news is that I was accepted into an ATAP study – basically a clinical trial for Pompe Disease where I will receive enzyme replacement therapy (ERT). This is great news! This will stop the disease from progressing and could possibly return some of my strength. I am scheduled for my first IV infusion on March 15, after that I will receive the treatment every 2 weeks forever or until another treatment can be developed. I will meet with the doctor who is heading up the study on March 1 and he will conduct some preliminary blood work at that time and I’ll sign my life away to medical science and officially become a lab rat.

It is such a relief to be scheduled for treatment for a disease that was once a mystery. Just think, it was only a two months ago that my aunt and I braved a blizzard in Minnesota in search for answers at the Mayo Clinic in Rochester and now on March 15 I will get my first treatment for Pompe Disease. I only found out about the ATAP study because a father of a young Pompe patient passed a ton of information on to me an encouraged me to “be my own advocate” and luckily I took his advice to heart and researched what was available for me. (Thank you Matt!) Openings in clinical trials are few and far between, had I waited who knows when another opening would have come up – if ever. I am lucky and thankful to the online Pompe community. There are only an estimated couple hundred people living in the US with Pompe Disease so we are small yet supportive community.

What is Pompe Disease?

Now that I have been diagnosed with Pompe Disease a lot people have been asking what it is. Sure you can surf the internet and try to figure it out, but there really is not a whole lot of information out there and what is out there can be confusing or contradictory. I’m still trying to figure it out myself. Pompe Disease falls under the large umbrella of Muscular Dystrophy meaning that, well in the most broadest terms it weakens the muscles.

Pompe Disease is also known as Acid Maltase Deficiency which is a Glycogen Storage Disease – confused yet? It is caused by a defective gene that results in a deficiency of an enzyme. Ok – my body can’t break down glycogen so it gets stored in the muscles which weakens them and causes all sorts of problems with mobility, breathing, the liver, and heart. Basically, as my doctor put it, “This is case where your DNA let you down.”

The disease is progressive and very rare. They estimate that only 5,000 – 10,000 people worldwide have Pompe Disease. I guess I am one of the luckier ones as it is much more aggressive in children than adults, but I am far from lucky. Pompe Disease is not curable. It is only treatable and currently it is only treatable if you can get into a clinical trial as the FDA has not approved the Enzyme Replacement Therapy for commercial use in adults. I am currently trying to get into a clinical trial and will keep you posted.