Capitol Hill, BIO, 21st Century Cures, Airbnb, and one more thing … Reflecting on my DC week

The first rule of blogging is to post good content on a regular basis.  The second is to keep your posts short, to the point and to not mix multiple topics into one post.  Oh boy, am I in trouble …
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My 6th trip to DC this year ended reflecting at 35,000′ with a Crater Lake Hazelnut Espresso Vodka courtesy of gold status on Alaska Airlines as I flew non-stop back home to Portland Friday evening.

I cratelakevodka admit I was stoked because of so many good people, connections, meetings, and events that I had experienced over the past three days.

And then I connected to Alaska’s WiFi …

Before I tell you what I learned from the world below,  let me share a few of the other highlights … each of which I will share much more about in coming posts.

13 Senate ofice meetings in one day

Jay Griessing of Biomarin set up and attended 14 Senate us-senate office meetings and one House meeting with me … 13 Senate meetings on Wednesday alone!  I have been to Senate offices many times over perhaps a decade – my prior max was 6 or 7 meetings. And better yet, because Congress is in recess (out campaigning) the two of us were very efficient as we meet with the staffers who do the real work on the Hill.

21st Century Cures is alive

curesnowpict We discussed 21st Century Cures, its history and what we hope to accomplish over the next few weeks during the lame duck Congressional session.  The short update … there is a lot of enthusiasm on both the Senate and House side to get #CURESnow passed.  It might be slimmed down a bit but we’ll take it.

Rare Policy

rarepolicy-home-pages-draft A missing voice was identified at 21st Century Cures strategic planning meeting held two weeks ago duringmy 5th trip to DC at the NORD Rare Disease Summit.
We need the voice of the patients, families, caregivers, and general public to push CURES to the finish line.  I am about 24 hours away from launching a platform that lets this audience contact Congress with 1-click in a much more impactful way … and gives those of us managing these programs a lot more ability to build on these grass-roots networks.  I spent three late nights last week communicating with a development team in India … and watching the Cubs historic win streamed to a small corner of my screen.


BIO Patient & Health Advocacy Summit

biosummit2016 I again attended this annual gathering of advocacy and industry. The #BIOsummit2016 sessions and particularly the networking was exceptionally rich this year.  BIO does great job of balancing the content and attendance so we all come away enriched and informed.  I spent time with dozens of people from multiple stakeholder communities … advocacy, industry, policy, organizational leadership, consultants, communications, etc.

Airbnb

airbnd-chic-14th-u airbnb-new-logo-1-1024x863 Ok , I’m adventuresome, frugal with MLD Foundation funds, and we’d reached our quota of room nights with Hilton family hotels to keep our status with them … so I made my first Airbnb reservation and stayed at a place described as Chic designer-rustic, 14th & U Neighborhood, Metro (if you sty there tell them Dean recommend you).  A 3rd floor room, a tiny European style bathroom with a sideways sink, WiFi and great hosts.  I’m no longer an Airbnb virgin.

And then

edengetsherwings201611 One email subject line whisked me from this whirlwind activity, progress, and networking and reminded me of the reality of why I’m doing this … Eden gets her wings”.  Beth is not a MLD carrier and Eden was healthy by all accounts when she was adopted from Ethiopia by her single mother, Beth.  7-year old Eden was finally free from MLD, but no longer with us.  Late infantile MLD starts to show its devastation around 18-24 months, just after Eden was brought to the US to live what was supposed to be a happy healthy life.


#FMLD fmldcar … which properly stands for Fighting MLD … but that’s not quite how I feel right now.  ;(

I love what I do … and yet I hate the reasons I ever had to start doing it.  MLD and Rare Disease are my passion and focus … but there are times where overall health and sometimes even bigger things are the concerns.

more to come …

Rare Disease Week in DC … a parent’s perspective

RareDiseaseWeek-Logo-rgb-larger

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.

Kim Brown - RDW-DC 2016

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.

 

 

MLD Newborn Screening Pilot Study – Announcement

Today is Rare Disease Day. It’s an appropriate day to announce we have come one step closer to a MLD Newborn Screen!

The pilot study to test the newly developed MLD Newborn assay/technique on current newborn babies born in Washington state will be starting within the next three months once testing lab equipment is in place.

tandem mass

The MLD Foundation will continue to push forward until all newborns are tested for MLD. Thank you Dr. Michael Gelb  for your tireless work to make MLD newborn screening a reality.

#‎mldfamily‬ ‪#‎mldfoundation‬ ‪#‎FMLD‬ #fmld ‪#‎runovermld‬ ‪#‎rarediseaseday2016‬

MLD Foundation – Very Active This Rare Disease Day (2/29)

February 29th is Rare Disease Day this year.  1 in 10 – 30 million Americans – have one of the 7,000 rare diseases.

On this rare day take a look around – who is it in your circle that has a rare disease?

MLD Foundation is very busy this Rare Disease Day not only on behalf of metachromatic leukodystrophy, but also on behalf of all with rare diseases because at helps the rare disease community will help MLD along our journey.

Monday – Rare Disease Day at the NIH

  • One of 40 exhibitors and poster presenter at this very important Advocacy Day.  The poster is about the RUSP roundtable, and initiative focused on improving newborn screening.
  • RUSP Roundtable is a MLD Foundation organized, hosted and sponsored event that is a unique gathering of key opinion influencers in the newborn space representing clinicians, state & public health, advocates, genetics, genomic sequencing, industry, ethics, privacy, and more to improve newborn and childhood screening and health.
  • We are pleased to be the inspiration for newborn screening legislation just  introduced in California by EveryLife Foundation that will require California to quickly implement new screens as they are approved by the federal ACHDNC.  Right now each new disease requires legislative authorization.  This “Once and Done” legislation will be model legislation for all the other states.

Tuesday – Rare Disease Legislative Conference

  • Dean is the host and moderator for a day-long legislative training conference for nearly 300 advocates from e very state who have gathered in Washington DC.  This is his 3rd year in this role and he continues to make sure every advocate walks away better informed and more confident as they impact policy for all of us.
  • Newborn Screening breakout session presenter.  Dean is responsible for sharing a full overview of the process, status, issues, and opportunities in Newborn Screening.

Wednesday – Rare Disease on Capitol Hill

  • 300 advocates will split up to meet with all of their Congressional representatives using the training from Tuesday’s legislative conference to advance Rare Disease awareness and policy.
  • Dean is leading a group of advocates representing the Pacific Northwest for six meetings with our Congressional representatives.

Thursday – Rare Disease Congressional Caucus

  • The House has had a Rare Disease Caucus for quite a number of years.  New this year is a Senate Rare Disease Caucus.  The Senate has very few caucuses so this in itself is rather unique.
  • Dean will be attending the Rare Disease Caucus meeting to share the Rare Disease voice.

The month of February is Rare Disease Month – our time to increase awareness of the possibility of Rare Diseases as a diagnosis.  Please do your part – share these posts and plan a special event for Rare Disease Day.


Rare Facts – what we’ve learned so far …

 

 

 

Febru rdd-logo-transparent ary is Rare Disease month, culminating on February 29th – a Rare Day indeed – which is Rare Disease Day.

 

Sign up to follow this blog and be sure to share this post.


  1. Harvey, A. M.; et al. (1979). Differential Diagnosis (3rd ed.). Philadelphia: W.B. Saunders
  2. Imperato, Pascal James (1979). Medical Detective. New York: Richard Marek. ISBN 0-399-90058-6
  3. Sotos, John G. (2006) [1991]. Zebra Cards: An Aid to Obscure Diagnoses. Mt. Vernon, VA: Mt. Vernon Book Systems. ISBN 978-0-9818193-0-3
  4. https://www.sireninteractive.com/sirensong/findzebra-rare-disease-search-engine

Hear hoofbeats? Think Zebras … it could be a Rare Disease!

When we hear “clippity clop” our brains immediately think horses.

Think-Zebras Zebra is the American medical slang for arriving at an exotic medical diagnosis when a more commonplace explanation is more likely.[1] It is shorthand for the aphorism coined in the late 1940s by Dr. Theodore Woodward, professor at the University of Maryland School of Medicine, who instructed his medical interns: “When you hear hoofbeats, think of horses not zebras“.[2] Since horses are common in Maryland while zebras are relatively rare, logically one could confidently guess that an animal making hoofbeats is probably a horse. By 1960, the aphorism was widely known in medical circles.[3] 
The National Organization for Rare Disorders (NORD) estimates that it takes an average of 9 years for a rare disease patient to get an accurate diagnosis.[4]   Our experience with MLD is not that long, but it can easily be 6-12 or even 18 months for the late infantiles and 2-3 years or more for the juvenile MLD patients to be diagnosed. Too many are thinking horses, not zebras!

zebras-2

As an Advocacy Group leader, we often receive phone calls from families wanting to know how to cure MLD because the family thinks their symptoms match according to what they found online using “Dr. Google” and “Dr. Facebook”.  After lengthy conversation we often shed additional insight and guide the family another direction – often in the midst of what is a moment of more frustration and uncertainty, but hopefully also with a bit of hope they are getting closer to finding their own zebra.
Some very creative types from the Technical University of Denmark, including Radu Dragusin, have launched a search engine dedicated to helping physicians diagnose rare diseases called FindZebra.com.  But doctors will not use the tool if they keep thinking horses.

And also, please reme zebras-1 mber that it’s not just doctors that raise yellow flags about rare disease.  Parents, teachers, friends, and other children often have insight that something is wrong.

The month of February is Rare Disease Month – our time to increase awareness of the possibility of Rare Diseases as a diagnosis.  Please do your part – share these posts and plan a special event for Rare Disease Day.

 


Rare Facts – what we’ve learned so far …

 

 

rdd-logo-transparent February is Rare Disease month, culminating on February 29th – a Rare Day indeed – which is Rare Disease Day.

Stay tuned for a month of Rare Disease facts, tidbits and things to know.

Sign up to follow this blog and be sure to share this post.


  1. Harvey, A. M.; et al. (1979). Differential Diagnosis (3rd ed.). Philadelphia: W.B. Saunders
  2. Imperato, Pascal James (1979). Medical Detective. New York: Richard Marek. ISBN 0-399-90058-6
  3. Sotos, John G. (2006) [1991]. Zebra Cards: An Aid to Obscure Diagnoses. Mt. Vernon, VA: Mt. Vernon Book Systems. ISBN 978-0-9818193-0-3
  4. https://www.sireninteractive.com/sirensong/findzebra-rare-disease-search-engine

 

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

rdd-logo-transparent-small
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.

Sign up to follow this blog and be sure to share this post.

Rare Disease – 3rd Largest Country!

If everyone with a Rare Disease lived in the same country we’d be the 3rd most populous  country in the World!   3rd-largest-country---February-is-Rare-Disease-Month---wide

Rare disease affects all population groups in all countries and all sexes.  Some rare diseases are more prevalent in a few cultures where there has been less outside family mixing.

It might help you to visualize the third most populous country is the United States* – we’re also the 3rd largest geographically*.  Or think of ½ of the people in Europe all in one country.  That’s a lot of people … but since 1 in 10 people have a Rare Disease it makes perfect sense.


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

1 in 10 have a Rare Disease.
over 7,000 Rare Diseases … 30 million Americans, 30 million Europeans, 350 million world-wide are affected by Rare Disease.
80% of Rare Diseases are genetic.
Rare Disease would be the 3rd most populous country.

rdd-logo-transparent-small
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.

Sign up to follow this blog and be sure to share this post.

80% of Rare Diseases are Genetic

80% of the 7,000 Rare Diseases are genetic in nature.   80-are-genetic---February-is-Rare-Disease-Month

While most rare diseases show symptoms early in life, many are later onset diseases because our genetics are always with us.

Genetic inheritance patterns can vary from single gene autosomal recessive (like MLD) where 50% of offspring are carriers, 25% are affected, and 25% are free of the bad genes entirely … to autosomal dominant where 50% of offspring have the disease … to several forms of X-linked where which parent is affected and the sex of the child determine the inheritance pattern … or inheritance can be a more complicated multifactorial pattern that includes genes and environment … and there are mitochondrial inheritance patterns as well.  Learn more about forms of inheritance here.

Autosomal Recessive

It is important to note that carriers, while most often not sick, can pass along carrier or affected status if their spouse/partner is also a carrier.  Very rare diseases like MLD have a frequency of 1 in 40,000 births, but note this equates to 1 in 100 of the general population being a carrier.  That’s one carrier in every 3 or 4 school classrooms, 2 or three carriers in every movie theater, and about 685 carriers at this Sunday’s Super Bowl (68,500 seats)!

 

 


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

1 in 10 have a Rare Disease.
over 7,000 Rare Diseases … 30 million Americans, 30 million Europeans, 350 million world-wide are affected by Rare Disease.
80% of Rare Diseases are genetic.

rdd-logo-transparent-small
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.

Sign up to follow this blog and be sure to share this post.

Over 7,000 Rare Diseases

There are over 7,000 Rare Diseases. 7000-Rare-Diseases---February-is-Rare-Disease-Month

While each of the 7,000 diseases may be rare, when you add them all up they affect 30 million Americans … 30 million Europeans … 350 million around the globe … 1 of every 10 people have a Rare Disease.

Most of the muscular dystrophies are rare … cystic fibrosis is rare … many cancers are rare .. and metachromatic leukodystrophy is very rare, affecting 1 in 40,000 births with 1 in 100 of the general public being a carrier.

rdd-logo-transparent-small
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.

Sign up to follow this blog and be sure to share this post.

1 in 10 Have a Rare Disease

1 person in every 10 people has a Rare Disease. 1 in 10 - February Rare Disease Month square

 

30 million Americans … 30 million Europeans … 350 million around the globe … all with Rare Disease.

Pause for a moment and think about your family and those that live around you … many cancers and most childhood diseases are Rare Diseases.  On my block of 30 homes I know of three with Rare Disease … 1 in 10!

rdd-logo-transparent-small
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.

Sign up to follow this blog and be sure to share this post.