Reflections on Rare Disease Week 2015

Rare Disease infographic - Global Genes 2015 thumbnailToday, February 28th, is Rare Disease Day (actually RDD is the 29th – but we don’t have one of those this year!).

Today we celebrate and recognize the 1 in 10 of us that have one of the 7,000+ rare diseases … over 30 million here in the US and 350M worldwide, what would be the world’s 3rd largest country (more populated than the US) if we all lived in one place.  Less than 5% of the diseases have a formal therapy, over 50% of the diseases affect children, and 30% of those children will not live past the age of 5. In a world where doctors hear hooves and see horses, we are all zebras.  A good infographic about Rare disease can be found here.

RD Week Logo-for-banner-980x520

Recognizing this, MLD Foundation, both Teryn and I, spent the week in Washington DC for Rare Disease Week.  I wanted to share some reflections and highlights of our week with you.

On the lighter side, we joined with others at the Carnegie Institute of Science for a reception and a screening of the film RARE.  It was a time to catch up with many friends we have come to know through our work over the years … and to meet many more new advocates.  There was a preview screening of a film called Banner on the Moon.

The social highlight of the week was not watching films, it was the RAREARTIST receptionRareArtist 2015 - Therapy Dog - 13 yr Cody SpaderRareArtist 2015 Puppy Power Tegan Skye 9 yr Chordoma Thursday evening. I was able to talk to three of the artists.  13-year-old Cody Spader’s Therapy Dog shares his journey through surgery for complex seizures.  9-year-old Tegan Skye was dressed in a cute light blue dress and when I approached her to ask about her picture as the event started she was uncertain what to say … but once she became comfortable I learned that her father has Chordoma and needed to travel several thousand miles for specialized surgery.  Their family dog had always comforted dad at home by laying in his lap, but the dog could not travel to the hospital.  Little Tegan was very concerned that her dad be comforted so she drew this picture for her dad to put up in his hospital room while he recovered.  Hearing her tell this story not only brought a tear to my eye, but it also reminded me that no family member is every un-affected by rare disease.

On the business side of things, I was asked back for the second year to be the Moderator and Host for some 250 advocates from all 50 states at RDLA’s all-day Legislative Conference.  My job, besides keeping the event logistics running and on time (after 8 hours of sessions we ended just 90 seconds late), was my responsibility to welcome, include, educate, and engage the advocates so they had everything they needed to be powerful advocates during their Capitol Hill meetings the next day.  My brief motivational kick off talk, What Do You See, was based on the idea that what others see in us is not the inadequacies we see when we look into the mirror.  The advocates in that room needed to know they were leaders and perfectly capable of representing their specific disease communities, and when we divided 30 million Americans across each of them they were actually representing about a quarter of a million each!  We spent the day learning from and interacting from panelists which include legislative aides and a chief of staff from the Hill, advocacy leaders, lobbying firms, and many more.

In amongst some 1200 researchers at the LDN/WORLD meeting on Lysosomal Storage Diseases a couple of weeks earlier we met a Pennsylvania mother with a child with a rare disease.  She was passionate about learning about the research and supporting families with her daughter’s form of MPS.  After several conversations over the course of a couple of days at that meeting, we invited her to DC to share some of her passion with her federal representatives.  Registration was closed but we got her a place and onto the Hill day schedules.  She wrote me a quick note of appreciation yesterday – I was so thrilled she was engaged, connected and now not alone!  She joined the over 50% of the advocates at the conference who were 1st timers on the Hill.

On Wednesday we all put on our red RDLA scarfs and headed to meetings with our Congressmen and Congresswomen.   In between meetings we generally had to do a lot of walking to get between offices and across the Capitol from the House office buildings to the Senate office buildings. We saw dozens of other red-scarved Rare Disease advocates heading opposite directions.  The feedback from Advocates was about positive engagements as they discussed the 21st Century Cures Initiative, CURE (Compassionate Use), OPEN Act (Orphan Products), and Dormant Products /MODDERN (repurposing drugs).  I can’t count the number of times we were stopped as advocates, 1st timers and returning “old” friends mentioned how empowered and productive they were being … all for all of you!

We finished the week with an all day meeting on Friday at the NIH. We heard from Francis Collins, Director of the NIH and a huge fan of Rare Diseases, the FDA, NCATS, and a very interesting panel of creative patient-advocates turned science-advocates including Jill Wood of Jonah’s Just Begun/Phoenix Nest, Matt Might of, and Barbara Handelin of BioPontis Alliance.  Discussions included basic science, policy, funding, biotech start-ups, novel collaborations, clinical trials, newborn screening, identifying undiagnosed and mis-diagnosed rare disease patients, and much more.

We are humbled to be able to represent you as participants and leaders in Washington DC, and around the world.  Personally, our passion is always driven by MLD, but we know that a rising Rare Disease ocean benefits all diseases, including MLD.

You are special, you are RARE, but RARE is not rare, and you are not alone!

Have a good day.

Butterfly Hugs!



Advocacy General Research

openNHS Manifesto – Meeting Report

A meeting of researchers, clinicians, industry and academia was convened by the MLD Foundation on June 24th in Washington, DC to discuss the openNHS Manifesto we wrote about in this blog post.

Since a NHS is not a therapy, NHS participants have historically be giving time, energy, and effort, not to mention exposing their MLD loved ones to occasional invasive and potentially painful testing with limited feedback from the NHS study teams.

The openNHS Manifesto

  • recognizes the importance of NHS to better understand the disease and as a baseline to determine efficacy and obtain regulatory approval of new therapies.
  • calls for the NHS study team to be well-informed about MLD and to give back to the participants ideas and insight into improving the participants quality of life and ongoing clinical care.
  • calls for study sponsors to collaborate pre-clinically up front with other researchers and industry to design a study that meets the sponsor’s needs as well as  reasonably anticipated future needs
  • calls for study data to be open and accessible as raw data (in its entirety) to future researchers.  The Manifesto recognizes that some limited time protection may be necessary to honor publishing and IP rights.

At the DC meeting there was extensive discussion and sharing of perspectives and concerns about openNHS from many points of view.

We are pleased to report the meeting was a success on all fronts!  MLD Foundation, on behalf of those affected with MLD and the ongoing research community, was able to facilitate full support of the Manifesto and will be working with MLD collaborators in general, as well as Shire as sponsor of the current US late infantile NHS, to implement the Manifesto on current and future MLD Natural History Studies.

We look forward to sharing more specifics about what this means to MLD families and NHS study participants in the near future.

We will also be sharing our success with other advocacy groups with the hope that they too can call for openNHS in their communities.

Advocacy Awareness Education General Research

Report from FDA PFFD IEM meeting

Great Patient Focused Drug Development (PFDD) meeting at the FDA Tuesday discussing patients perspective on the neurological inborn errors of metabolism (IEM). Dean Suhr, president of the MLD Foundation, spoke on the second panel of the day and was able to both share and stir the pot a bit with regard to some of the patient perspectives on what we want in therapies, risk/benefit, access to trials in the US, compassionate/named access, patient reported outcomes, and consent.  It’s not all about statistics and biochemistry – we have life to live!

View from the panel of ½ of the audience of advocates, families, researchers, and industry
View from the panel of ½ of the audience of advocates, families, researchers, and industry at the FDA PFDD meeting on IEM.

Also met the Medical Officer at the FDA assigned to gene therapy and made sure she talked to Becky Vivian, a MLD mom who was there with her kids Eli and Ella showing the remarkable results from the Italian gene therapy clinical trial.

Both kids had the Italian Gene Therapy and are are on no post-transplant drugs.
The Vivian family – both kids had the Italian Gene Therapy and are on no post-transplant drugs. They, and the rest of the trial participants, are doing great.

In the next couple of days we’ll be sharing how to add your voice to the formal written docket for this meeting. This is our opportunity for the MLD community to be heard so we hope for many of you to share.

A MLD grandmother was also present – we had a great talk. Turns out she is a researcher and has done some work at the NIH. She wants to work with us … and you … to write a paper on bone marrow transplant outcomes. We’ll have more to share on that soon too.


openNHS Manifesto

On the 24th of this month we are convening a meeting of MLD researchers, industry, and academia in Washington DC to discuss openNHS, a project we hope starts with MLD but quickly expands to all rare diseases.

We’ve prepared and sent out an openNHS Manifesto to frame our discussions.  Please read this document and let us know if you have any feedback, questions or suggestions.

You can read more about this project in this blog post.


Advocacy General Policy Research

Join our call for OPEN Natural History Studies

A new Natural History Study (NHS) for MLD was launched a few weeks ago. We have taken the bold step of recommending that families NOT participate in this study … for now:

It is our belief that all natural history studies be OPEN access, meaning the study data be maximized by being made available to other researchers from other academic institutions and companies, and be as collaborative as possible. Properly designed studies will protect your privacy while maximizing the use of your data to facilitate longevity in MLD research. 
In our opinion this new NHS does not adequately meet this criteria. We are (February 2014) in discussions with the study sponsors to address these concerns.
from (see the detailed explanation near the bottom of this page)
This study is the fourth NHS that we are aware of for MLD and was launched by a long-standing pharmaceutical partner and MLD collaborator, Shire. We want to be clear that our don’t participate for now recommendation is not a Shire specific issue nor is Shire resisting discussing our concerns. Further, this “not participate”  stance is not because there are any fundamental scientific problems with the study, rather it’s that we want to optimize the value, usefulness, and knowledge gained from this rare disease Natural History Study for the researchers and for the patients.
We are actively working to bring the MLD community of Shire, GSK, Biomarin, several academic institutions, several other advocacy groups, and even some local treating clinicians together in the next month or two to collaboratively work on the following concerns and requests so we can get back to helping recruit for this study.
We are asking for two things before we encourage families to participate in this, or any other Natural History Study …
  1. OPEN collaborative Natural History Studies … meaning that the study is designed collaboratively and all ofthe the collected RAW data is made available openly to all future researchers.
    • MLD natural history studies are invasive and painful for the child who participates (nerve conduction and Lumbar Puncture/Spinal Taps). They also require a commitment that significant time and energy be put forth by families to make the repeat their visits to the study center knowing that they will not be receiving any therapy clinical trial access, i.e. they are giving to hopefully help the next generation of patients, not their own children.
    • Today, the current practice is one company designs their own NHS, collects and silos the raw data, uses the data for their application with the FDA, and then publishes the highlights.  Since only the summary data is published, the next company has to start from scratch with their own new study, engaging & testing more patients, etc.  That requires twice as many patients, twice as much patient sacrifice, twice as much cost, and perhaps twice as much time.  We don’t have a large enough community or enough time to double and triple dip – in fact, yesterday we lost another MLD patient, the 9th we know of this year.
    • The results from natural history studies are necessary for a new FDA/EMA therapy approval applications,however, these patients are untreated so their data is independent of any particular therapy.  Hence a NHS, just like developing a newborn screen, is a matter of common concern, not competitive advantage.
    • We are asking that Natural History Studies be collaboratively designed, collaboratively implemented, and all RAW data (not just the published summaries) be available for any researcher to access for any future study.  This collaborative approach will likely involve cost sharing as well so it’s complicated to set up but this approach allows us to gather the data as efficiently and as quickly as possible – while optimizing the “use” of the patient community.
  2. Give back to the patients/families with each NHS study visit … give the families information to take home after each visit to help them improve quality of life for their loved ones.
    • The NHS study centers have experts in gathering the NHS data, however, while they may understand lysosomal disease or leukodystrophies in general, they are generally not currently providing any direct MLD clinical feedback to the patients.
    • We already have a model for this in our community, the NDRD in Pittsburgh. In fact, families visit and re-visit the NDRD from literally across the country for the clinical expertise  and are then recruited into the natural history studies.  The NDRD has become a source of expertise and clinical support for many similar rare diseases.  They give clinical recommendations to the family to improve day to day quality of life and also become a medical resource for the local treating care team in the family’s home town.
    • We are asking that each study center be equipped to be a Center of Excellence for MLD where they can, and do, provide clinical expertise with each visit in addition to gathering the specific NHS data. This approach, as has been demonstrated by the NDRD, is a model that works for research and the families.
    • We are working to develop a Standard of Care for MLD to further support these clinical Center of Excellence goals and the local treating physicians when they go back home.
To our knowledge, no patients have been recruited for this specific Natural History Study.  We hope to impact the collaborative and clinical nature of how the study proceeds before any patients are enrolled, and frankly do not think these requests will impact the core study design in any significant ways.  As we all know, once patients are enrolled and data gathering momentum is established, change becomes more difficult.
We have excellent contact and influence with the MLD families worldwide. We are using this position and those relationships to try to affect a fundamental change in how Natural History Studies are implemented for MLD and for all rare diseases.
It is very bold to take this sort of position publicly – but it’s our moral responsibility to stand up for the patients.  We firmly believe this “patient-first” while “optimizing research” stance is optimal for patients and researchers.
If your organization supports this philosophy for OPEN Natural History Studies please comment here and then email us to let us know.  Advocacy groups can be the catalyst for these changes.
Dean Suhr, President  co-founder
MLD Foundation     
We C.A.R.E.™ for MLD families around the globe … for over 13 years!

DACHDNC recommends Pompe Disease for Newborn Screening Recommended Panel

The Secretary’s Discretionary Advisory Committee for Heritable Disorders in Newborns and Children (DACHDNC/SACHDNC), in a vote of 11 – 2, recommended the addition of Pompe Disease to the recommended uniform newborn screening panel (RUSP). This recommendation will be sent to the Secretary of Health and Human Services to approve adding Pompe to the RUSP.

After the HHS Secretary, Kathleen Sebelius, approves the committee’s recommendation, it is expected to be 3-5 years before the majority of states will be screening for Pompe.  Several states are running pilot and test programs already.

Pompe and MLD are both lysosomal diseases.  The Pompe NBS test uses a Tandem Mass Spectrometer, likely the same instrument that MLD will require when its screen is optimized.

Much like MLD, Pompe has several ages of onset, the early onset is the primary target of the NBS, but the screen will also detect a later onset form.  Early onset Pompe, if undetected, has an average age of death before 9 months. An enzyme replacement therapy developed by Genzyme, Myozyme, was  approved by the FDA in 2006.

The development of Myozyme was the focus of the 2010 film about the Crowley familyExtraordinary Measures, starring  Brendan FraserHarrison Ford, and Keri Russell.  While the film “Hollywood-izes” the story, compresses the actual time the development took, and shows an optimized ending, it is a good overview of what it takes sometimes to get new therapies developed for rare diseases.

A link to the press release can be seen here.


Advocacy Awareness Education General Newborn Screening Policy Research

RARE Patient Advocacy Summit – 2012

I was pleased to be the organizer and host for the RARE Project | Global Genes RARE Patient Advocacy Summit on September 29th, 2012. The day-long event with 140 in attendance and over 120 viewing via a live webcast.  Videos of the event are available below for viewing.

Awareness Education General Research

List of Rare Diseases

This list was prepared using data supplied by the NIH’s Office of Rare Disease Research in late 2011. Please note that your medical providers and insurance payors probably have their own lists of diseases they think are rare – this list is for quick reference only. 

Quick Jump: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Rare Diseases and Disorders Starting With “A”

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  • Aagenaes syndrome
  • Aarskog syndrome
  • Aase Smith syndrome
  • ABCD syndrome
  • Abderhalden Kaufmann Lignac syndrome
  • Abdominal aortic aneurysm
  • Abdominal chemodectomas with cutaneous angiolipomas
  • Abdominal cystic lymphangioma

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.