Rare Disease Week in DC … a parent’s perspective

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For those of you who know me, I have been a teaching computer skills to middle school kids for 17 years!.  While I love school now as a teacher, I did not enjoy all aspects of school as a student.  My favorite classes were Science and Gym!  Social Studies, not so much!  Shhhhh….. I really had no interest in our government.  Politics…….yuck!!!!!

So you can imagine my terror when Michelle Pierce, one of my best friends and another MLD Mom, sent me an email inviting me to join her on a trip to DC for Rare Disease Week.    Buzzwords like:  “Legislative Conference” & “Day on the Hill” were making me wish I would have paid more attention in Social Studies class!  However, knowing that we would have a blast together as we always do and knowing we could help our MLD Family was an honor I was not going to pass up.

On the Sunday before I departed for DC, I got a very unfortunate phone call from Michelle saying that Emily had a fever and was not feeling well.  Monday poor Emily was feeling worse and was admitted in the hospital.  You all know as MLD parents, sometimes our little ones have a different agenda.  (Please say a prayer for Michelle, Emily and their family as of today they are still in the hospital.  http://www.caringbridge.org/visit/emilypierce )

Now it turned out that I was headed to DC sans-Michelle. . I arrived late Monday night, met with Dean for a bite to eat and to discuss the agenda for the next two days.

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Kim Brown & Dean Suhr sporting matching MLD butterfly jewelry – on Capitol Hill in Washington DC 2016 for Rare Disease Week.

Tuesday was our “learning” day.  We attended the Legislative Conference from 8:30am – 5:30pm.  The day started out with an AMAZING breakfast followed by the Welcome which was conducted by our very own Dean Suhr!  (Dean, you did a great job by the way 🙂 …. we need to get you a bell for the next MLD Family Conference 😉 )

 

The rest of the morning there were discussions on the upcoming election, appropriation process, and information on the FDA, PDUFA, and NIH (a lot of acronyms).

Before we broke for lunch we discussed the OPEN Act Accelerating Cures and Treatments, the Rare Disease Caucus, Patient Focused Impact Assessment Act, and the Rare Disease Fund Act of 2015.  These were the very things we were going to “Ask” for in our meetings on Capitol Hill the following day.

After lunch we discussed strategies on how to attend meetings.  Topics discussed were: How to build relationships with members of Congress, sharing our advocate stories, congressional scorecards, hill asks and leave behinds.

They put on a very entertaining and informative skit on what to not do and what to do at our Congressional meetings followed by breakout sessions.

New Jersey The final step of the conference was to break out into our groups that would be visiting senators and congressman from our state.  It was amazing getting to know the group of advocates from NJ.

Some advocates were parents like me, some were grandparents, there was a mother and daughter and some amazing people who had rare diseases themselves.

The next day was the “march on the hill”.  We had an agenda to meet with Senators and Congressmen from NJ.  Mostly we met with their office staff.  Never underestimate the staff personnel.  They are the right hand men and women of your senators and congressman.  They hear advocate’s stories and direct connections to the things we are trying to pass on the hill and report back to them with a “this is a worthy cause, let’s endorse” or  “this may not be the direction we want to take”.

After meetings all day, I have to say each and every congressional representative we met from NJ was open and receptive to the things we were fighting for.

cookie We even had an unexpected meeting with a member of Congress during lunch.  He joined the rare disease caucus right on the spot and endorsed the Open Act.  Pretty amazing stuff.  (As an inside joke, all credit goes out to a cookie…. ask me about it the next time you see me!).

Overall, it was an honor to increases awareness of MLD as a rare disease and to represent all of you as a MLD mom on Capitol Hill.  I strongly recommend all of you to participate if you can next year!

~Kim

p.s. [from Dean] … Thanks, Kim.  I was thrilled to have you there, too! I look forward to a bell – and a cookie at our upcoming MLD Family Conference (July 15-16)!

(Check out Kim’s blog for her daughter Reese here). Emily Sevcik, a MLD mom from North Carolina was also there.

Rare Disease Day is the last day of February. Rare Disease Legislative Advocates, a program of EveryLife Foundation organizes the week, they offer modest travel stipends, and take care of all of the logistics.  Do plan to join us in 2017.  It’s important (and fun) work.

 

 

50% of those with Rare Disease are Children, 30% will not live to age 5

50-percent-children 50% of those affected with Rare Disease are Children!

Of those children, 30% will not live to see their 5th birthday.

birthday_candles Rare Disease is a leading killer of our children. Nearly a third of the children with rare disease will not live to see their 5th birthday.

Rare Disease is responsible for 35% of all deaths (of any cause) during the first year of life!

Less than 5% of Rare Diseases currently have a FDA approved  disease altering therapy that permanently cures or stops the disease.


Rare Facts – what we’ve learned so far … 1 in 10 - February Rare Disease Month square

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February is Rare Disease month, culminating on February 29th – a Rare Day indeed – which is Rare Disease Day.
Stay tuned for month of Rare Disease facts, tidbits and things to know.

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Say it’s not true … New Zealand proposes NO access to an “effective therapy” for a rare disease

Has my Sunday morning coffee not kicked in?  Am I reading this wrong? Tell me it’s not true …

  • Alexion has an “effective therapy” for paroxysmal nocturnal haemoglobinuria
  • New Zealand is proposing to decline access to therapy for its citizens  … not because it does not work – they acknowledge it is an “effective therapy” – rather, they think it’s too expensive.
  • Less than 5% of the over 7,000 rare diseases have therapies and they want to hold one of the few back !!!!!!????

Until this morning, I didn’t even know what paroxysmal nocturnal haemoglobinuria (Marchiafava-Micheli syndrome or PNH) was – all I need to know was they are fellow brothers and sisters with rare disease.  We must come to their support.

Enough already!  Well over 95% of the rare diseases are struggling to understand their disease and develop therapies … yet here we have a disease with a therapy that some bean counting bureaucrat says $$ x number of patients = too much.  What they conveniently ignore in their public stance is that Alexion, like all rare disease drug companies, will work with countries that need help to offset the list price because they care about the patient.  PHARMAC (New Zealand’s purchasing agency) you should care too!

We must not allow any more piecemeal incursions on the progress we are making towards therapies for all rare diseases.  If your disease is lucky enough to have a therapy in the future – the PNH struggle could be yours.  We must education and inform now!

So what can or should you do?  read on – it won’t take much time… Continue reading

Our new blog …

Welcome to the MLD Foundation’s new blog!  We’re excited to share about topics of interest to the MLD, lysosomal disease, leukodystrophy, and frankly, the entire rare disease community.

Many of you in the general public and the MLD Family know us from the family support we provide to families affected by MLD … MLD Family Conferences™, MLD Family Gatherings™, the MLD Family Discussion List™, the MLD Foundation web site, etc., but that is only a part of what we do!

We spend a lot of “behind the scenes” time working with researchers (both academic and at industry) and an increasing amount of effort affecting policy.  We are active in Newborn Screening, FDA policy (PDUFA, FDADSIA, compassionate access, Patient representative Program, etc.), NIH projects (RDCRN, CPAG, NCATS, GRDR, ORDR, etc.), educating and impacting Capital Hill (we can’t “lobby” but our voices are heard loud and clear on funding, sequester, and impacting new legislation), a slew of rare disease activities (registries, biobanks, World Rare Disease Day) and the list goes on.

Continue reading