We have 20/20 Vision for MLD

2020 will bring new clinical and therapeutic care to the MLD community.

When we started serving MLD Families in 1999 – two decades ago – we had no idea how challenging and time-consuming it would be to improve clinical care and disease altering therapies.

Along with your support, we’ve done a lot of heavy and consistent lifting these last 20 years.

If you read nothing else of this blog, please know that we gratefully THANK YOU and wish you and the MLD community a Happy New Year!!

Our Time is Now!

We look forward to reaping the benefits of these past two decades and our ongoing work during 2020 and the first couple of years in this new decade. During 2020, after many years of research, pilot studies, and clinical trials, families will start to benefit directly as this work becomes available to families to improve the quality of life for those with MLD.

NEWBORN SCREENING … Newborn screening is critical to identifying MLD at the earliest possible time – birth. These infants will have the greatest benefit from current and new disease-altering therapies.

We’ll see the launch of newborn screening in the first US public health system in parts of the state of New York as a precursor to a federal RUSP application, screening in more US states, and adding newborn screening to various international health systems too!

Teryn Suhr of MLD Foundation took the lead to develop the screening technique that is being used today. We’ve led in instituting powerful state NBS policy in California and Florida. We’ve hosted a Newborn Screening Summit for MLD experts and will host several more this year. We are continuing and expanding work as we are coordinate and manage a federal RUSP nomination as well as state-by-state & country-by-country MLD newborn screening implementation.

Early diagnosis through newborn screening and an expanding choice of therapies means each family can choose what is best for their child.

GENE THERAPY … gene therapy clinical trials have shown extraordinary results with pre-symptomatic children. Orchard Therapeutics filed with the EMA this past fall and should have their response – hopefully, an approval – around mid-year. We hope the US FDA review will start in early 2021 – maybe sooner!

Homology Medicines is seeing excellent pre-clinical research for its novel approach to gene therapy.

MLD Foundation is and has been working with at least four other pharmaceutical companies and research spinouts but cannot share more about their pre-clinical work (yet) due to NDA requirements. We speak regularly with startup companies and venture capital companies about the opportunities and challenges surrounding MLD.

And there is more …

STEM CELL TRANSPLANT … we are seeing ongoing improvements in MLD stem cell transplant, MLD’s only widely available therapy. In addition to the studies underway at various hospitals and academic institutions to reduce mortality, reduce chemotherapy, and improve outcomes for current MLD transplants, Magenta Therapeutics has a clinical trial studying cell-expansion and is working in the lab to eliminate chemotherapy as part of the transplant process.

BETTER DISEASE UNDERSTANDING … There are over 300 mutations known to cause MLD – that’s 90,000 potential mutation combinations. We only know the progression of a handful of those mutation pairs with decent certainty. MLD Foundation is actively engaged in a genotype-phenotype study to better help families make optimal informed quality of life clinical and therapeutic decisions.

We’re also active in two academic Natural History studies and operate an MLD Patient Powered Registry where MLD families are sharing their MLD journies so we can improve not only the medical care, but also improve the social, emotional, financial, public services, and creative family-driven/inspired quality of life strategies and decisions.

We have been meeting with the FDA since 2007 to expand their understanding of MLD and the therapeutical needs of the community. As we get closer to a regulatory filing we will both focus and expand the communications with the agency.

But not everything about living with MLD is medical

COMPASSION AND SUPPORT FOR FAMILIES … We do our best to address the needs of MLD families in hands-on practical ways … some recent examples of direct engagement: we’ve helped several families get wheelchair vans for their loved ones, We’ve re-purposed medical equipment, provided logistical and financial support to help a family get same-day passports to get to Italy for gene therapy evaluation, helped overturn MEDICAID out of state therapy rejections, visited Italy to help a family enroll in the gene therapy, helped families make numerous therapy and non-therapy decisions, appeared at a deposition to help a family get in-state MEDICAID support for their family.

But perhaps the most impactful work we do is when we meet with families in person, at conferences, and over the phone. As we all know, an MLD diagnosis is just the start of a journey filled with decisions impacting all facets of life all while grieving the impact of MLD on a loved one and our parental/spousal expectations for life.

We spend hours on the phone with many of the newly diagnosed families helping them to learn about the disease, what to expect, clinical and therapeutic decisions, life decisions, and just being there with them as they digest an overwhelming amount of information and make decisions no parent or spouse should ever have to make.

And of course, we have host an annual MLD Family Conference™. This is where you can meet with dozens of other MLD families face to face with extended time for conversation. There are always MLD clinical and research experts to engage as well. In 2019 we launched the MLD Newborn Screening Academy. In 2020 we will continue that education and empowerment. MLD cannot reach the finish line without your direct efforts in your home state.

How Do We Do It?

We do all of this with your support … financial, time, energies, introductions to your connections and resources, “tips” about new ideas, approaches, and activities, and with the support of your thoughts and prayers.

Our philosophy has always been to try to meet researchers, companies, regulators, policy-makers, investors, other advocacy organizations, and most importantly, families, in person whenever possible. We visit them in their offices, labs, hospital rooms, and homes. We have found that we can have more intimate, detailed and informative conversations in person than via email or phone. We make it a point to share whatever information we can to connect the knowledge, needs, and experiences of one person with another … and sometimes that includes finances too! We’ve seen dramatic results and huge leverage with this strategy.

As you can see below, it’s a lot of nights on the road on your behalf. Life with MLD never stops so there are no days off … we are always honored to be working for you as our mobile phones and laptops travel with us.

The total is since 2008, when we started using TripIt to manage our travel.

In addition to face-to-face meetings, we spend extensive time in Washington DC with the FDA, NIH, other advocacy groups, and policy-makers. There are a half dozen or so key conferences and events each year. However, we don’t just attend those conferences, we also actively participate by presenting, booth displays to educate, posters to educate, and participating in panels to inspire.

MLD PATIENT POWERED REGISTRY … This is how our experiences are being gathered to impact researchers, clinicians regulators like the FDA, and policymakers. Unlike most natural history studies that only ask a small number of families a limited and focused set of disease-specific medical questions, the MLD PPR covers all aspects of life with MLD … from diagnosis to extended family, finances, clinical care, social services, and much much more.

As we gather more data we gain breadth, understanding, and perspective. All of this allows us to have a greater impact as we use the data. Researchers can request access to the de-identified data so they can efficiently advance their work.

We want all families to participate … no matter how recent or long ago your MLD experience is, no matter if your loved one is living or has passed, no matter what your home country is – everyone has MLD journey experiences to share and for us to learn from.

How Can You Help?

Reach back to us and let us know you are interested. Every one of you has skills that enhance or expand what we can do, knows people we don’t, and lives in a different part of the country or the globe.

Got a minute? 2 minutes? 60 minutes? We will be blessed by just a minute or two whenever you can spare them.

We recognize that your emotional and physical needs will ebb and flow as you navigate the MLD journey. We know that too, so we will always try to make sure you are supported and not overwhelmed.

Do you love social media? We have a special need for someone or multiple people to help us with our social media.

— 
Dean Suhr
President
MLD Foundation
21345 Miles Drive
West Linn, OR 97068-2878 USA

1+503-656-4808 or 1-800-617-8387

http://MLDfoundation.org Serving the MLD Community since 2001We C.A.R.E.™ … We are the largest charity worldwide focused on MLD family Compassion, Awareness, Research and Education.

Minnesota at Rare Disease Week on the Hill

Last year when I read Kim Brown’s blog on her experience on the Hill for Rare Disease Week 2016, I told my husband, Trevis, that I wanted to go to Washington DC in 2017 and be an advocate for our precious son, Thomas, who left this earth to become an angel in October of 2015.  After seeing all of the emails from Dean and Teryn Suhr of MLD Foundation and after visiting in person with them and Christine Hoffman when they all made a trip to Minneapolis, I applied for a stipend through EveryLife Foundation and soon I found myself booking flights for DC.  I convinced my husband Trevis to come as well and the next thing we knew we were on our way to DC not really knowing what kind of experience that we would have.

We arrived into DC in the afternoon of Monday, February 27 and met up with Dean and Teryn Suhr and Eric and Christine Hoffman, fellow MLD parents, for the viewing of Rare Disease Documentary Screening of Up For Air at the United States Naval Heritage Center.  The movie was very nicely put together regarding an individual who was living with Cystic Fibrosis, and his journey through the disease.   After a late dinner and lots of travel, we were ready for bed as we knew we had another busy tomorrow learning about all of the policies that we were advocating for in our meetings on the Hill on Wednesday.

Tuesday morning we went to the day-long RDLA Legislative Conference, hoping they would teach us what to say to our Congress men and women on Wednesday.  When we got there we were inundated with a lot of information about current policies affecting the rare disease community.  Specifically they talked about what needed to be included in the Affordable Care Act Replacement Plan to not harm rare disease patients going forward, the Rare Disease Congressional Caucus and its importance, rationale for increased funding related to the National Institute of Health (NIH) and Federal Drug Administration (FDA), and the support of the OPEN ACT.  By the end of the day we felt prepared for our meetings with our Congress men and women on Wednesday.  In the afternoon we were able to go to a breakout session where they taught us how to tell our story which included our plug for why we needed their support within 90 seconds.  We also got to meet other constituents from the State of Minnesota as we would spend most of the day with them on Wednesday telling our story and making our asks of our state Legislatures.

That evening and during the day we were able to meet other MLD families as there were 14 of us representing MLD this year.  It was pretty amazing and let me say our MLD families are awesome, I might be a little biased!  We learned a lot on Tuesday and we were ready for the Hill on Wednesday.

Wednesday, March 1 we got up bright and early for breakfast before they sent us off to the Hill.  We met up with our MN team right after breakfast and headed to our first meeting.  We all had our 90 second elevator speech ready for our meetings with our specific “asks”.  Brett Robertson, a MLD dad, was in our group from MN, but even though we had similar stories our “asks” were very different, which made our meetings even more impactful.  Everyone in our group had their opportunity to present their story and articulate their “ask” to the congressional staffer and/or the Representative or Senator.  We were most interested in obtaining funding for the NIH and FDA, so that we can continue to search for cures for this awful disease.  At every meeting that we had, we left a letter that told Thomas’ Story in more detail along with our specific asks, which of course had pictures of our sweet boy.

As we moved from meeting to meeting we were lucky to get our own tour of the House side of the Capital with former Congressmen Brian Baird from the state of Washington.  Brian is a Board Member of the Pulmonary Fibrosis Advocates as his father passed away from this disease and Paul Fogelberg, who is from MN, the founder of Pulmonary Fibrosis Advocates was also in our group. Paul and Brian have been on the Hill many, many times advocating for rare diseases, which made our meetings even better as they both were able to add pertinent color to emphasize to the Staffer or the Congressmen important issues worthy of their consideration as it relates to the rare disease community.  Our team was a well-oiled machine by the time we went to our last meeting.

Before we headed back to our hotel room, we attended the Rare Artist Reception where we were able to view spectacular art created by artists with Rare Diseases.  We were amazed at the talent that we have in the rare disease community.  Each piece had a unique story, which made it even more amazing.

Overall Rare Disease Week on the Hill was incredible and truly life changing.  It was a very emotional couple of days, but knowing that we were advocating for not only our MLD families, but also the Rare Disease Community as a whole gave us a sense of accomplishment and us asking ourselves what more we can do for the rare disease community.  Thomas is no longer with us, so we now have to continue his legacy and to be his voice for all of the other kiddos and families in the United States that are fighting rare diseases.  We need to continue to fight for cures!  I would encourage all of the MLD families to start planning now to make it to Rare Disease Week on the Hill in 2018.  It was an amazing experience!

Laura & Trevis Alberts

Our first Rare Disease Week in DC


At the 2016 MLD Family Conference a conversation with Dean led to a decision to attend the Rare Disease week.
It was a first visit for wife Nancy and I to Rare Disease week and a pleasure for us to assist daughter Michelle in attending this year.

Last year she had planned to attend but her daughter Emily had been admitted to Boston Children’s Hospital so Kim Brown had to pave the way and the great job she did encouraged us . Having visited DC all the way back to 1968 and many times since, I can conclude that big government is definitely in vogue.
Our first challenge was finding the right hotel and transportation and as always Dean came to the rescue. We stayed in Arlington Hilton Garden Inn based on one caveat, they gave us a reservation that could be cancelled at the last minute, no charge. Michelle was a suspect attendee based on her stroke and cancer recovery status but she was able to recover sufficient to make the trip. We used the metro to transfer from the hotel to meetings and soon were comfortable with travel inside the beltway. My recommendation would be to use Uber (what a great innovation in free and fair trade) to avoid any walking and searching for buildings in the rain.

We attended the RDLA Legislative Conference on Tuesday, which was a series of presentations related to rare disease issues apart from one political speech in support of the ACA which is an oxymoron. Most of the presentation related to current issues of interest to the advocacy community. The room was packed with attendees and the presentations were helpful in preparing us for the next day.

We met and heard some people from NC who had significant experience in advocacy and the group that we participated in helped navigate us through the halls of the senate and congress during our representative visits on Wednesday. We were prepared that we would not get to visit face to face with our representatives and that senior staffers were equally important.

I did see a number of senators in the basement as they departed the subway to the capitol building including Elizabeth Warren who smiled at Michelle as she was being pushed by me but had an MA Rare Disease badge on. My disappointment at not seeing any senator or congressman in our office visits was more than countered by the magnificent scene on Tuesday’s TV appearance of Megan Crowley* in POTUS’ message to a joint session of Congress and the first time ever Presidential recognition of Rare Disease Day!

In summary, it was a great experience and one we will repeat again next year, Lord willing. For many years I have lamented my lack of involvement in the MLD lobby. Dean and Teryn have carried the baton alone too long. This year was a manifold increase from Kim Brown’s sole visit last year. I hope that next year we will have an MLD hotel block rate to encourage participation.

Maybe Trump will attend 😊

 

Farewell, Adios, Ciao, Au Revoir, Sayonara and Zàijiàn,

Tony Hodgson for Michelle Hodgson Pierce and Nancy Hodgson

* Megan Crowley, her father John and the rest of her family were featured in the 2010 film, Extraordinary Measures.

A Call for Rare Facts Unity & Consistency

It’s Our Opinion …

I presented this poster at the NIH’s Rare Disease Day event earlier this week (2/27/17).  In short, to maximize impact and credibility, we are asking all organizations – government, advocacy, industry/pharma, academia, etc. to be consistent with their public sharing of Rare Disease facts.

I realize that sometimes we must be very scientific about things, but for basic Rare Disease awareness, where there are no absolute numbers, we need to be consistent in order to be most credible and impactful.

We suggest that this should be our common voice with regard to Rare Disease Facts:

  • 7,000+ rare diseases
  • over 80% of Rare Diseases are genetic
  • 1 in 10 have a rare disease … over 30 million Americans, 350m worldwide
  • over 50% of which are children
  • 30% of those children will not live to see their 5th birthday
  • <5% of rare diseases have approved therapies
  • and as of early 2017 only a few hundred rare diseases have therapies … 95% do not have a therapy!

A good source

Global Genes presents a nice summary of these Rare Disease facts, and more,  on their Rare Disease Facts page.

* images source: Global Genes 

Tissue Donations … The Ultimate Gift!

A MLD mom recently asked about donating her son’s brain and other tissue to research after he passed.  There is no more personal or profound donation that can be made to advance MLD research.  This post is a lightly edited copy of my response to this special MLD mom …

It’s always difficult to talk about tissue donations. It’s a very sensitive and personal topic. Our desire at MLD Foundation is that you be informed and consider tissue donation … it is critical that researchers have access to MLD tissues, including brains and other organs, to better their basic science understanding and to focus and expedite their work toward therapies.

UMB Brain & Tissue Bank at the University of Maryland

We currently recommend the UMB Brain & Tissue Bank at the University of Maryland.
We have visited them several times over the years, met with and queried their staff, and know first hand they treat every sample with the greatest respect. They have been a primary national tissue bank for the NIH (National Institutes of Health) for over 15 years and allow access by non-NIH researchers from academic institutions and pharma companies so donations them them are very accessible.

They do all of their work behind the scenes and while they prefer the donation paperwork to be signed and placed on file in advance with them and your local care team, they can often work quickly if things suddenly take a turn for the worse and they need to move more quickly.

 What does this cost?  Can I have a normal memorial and viewing?

There is no cost to your family. Taking tissue samples does not affect your ability to have any form of traditional memorial ceremony or viewings.

The paperwork is fairly simple. You can learn more, including registering online here: http://www.medschool.umaryland.edu/btbank/family/

Videos …

Here are two videos that may answer a few more questions and help convey the value of tissue donations:
–  Mystery Disorders of the Brain
–  About the Brain and Tissue Bank

More questions?

We are happy to help you along in this process. MLD tissue, especially brain tissue, is very valuable. Don’t worry that you do not live in the Maryland area – they can arrange for the tissue samples to be taken in nearly any city across the US.

If you have any other questions please let us know.

p.s. MLD Foundation is investigating using additional tissue banks, but the Univ. of MD is currently our primary choice for donations. Keeping as many samples as possible in one place as opposed to scattering them at multiple institutions makes the tissues a more accessible and valuable resource.

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 …
jetitup2016-11
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.

Icratelakevodka 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-senateoffice 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

curesnowpictWe 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-draftA 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

biosummit2016I 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-uairbnb-new-logo-1-1024x863Ok , 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

edengetsherwings201611One 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.


#FMLDfmldcar … 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 …

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 …

 

 

 

Februrdd-logo-transparentary 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-ZebrasZebra 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 remezebras-1mber 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-transparentFebruary 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-children50% of those affected with Rare Disease are Children!

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

birthday_candlesRare 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.