Awareness Education General

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

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.

Advocacy Awareness Compassion Education General

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.

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.

Awareness Education General

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.

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.

Awareness Education General

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.

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.

Awareness Education

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!

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.



Merry Christmas …

As you read this most of the MLD Family™ is up and in the midst of their Christmas day – we have a Hawaiian family that is (hopefully) still snoozing!

It’s Christmas all over the world … from New Zealand & Australia through SE and central Asia, Europe, Africa, North, Central and South America the MLD Family™ covers the globe and includes all continents except Antarctica (as far as we know!)
No matter where you are we wish you a Merry Christmas and send butterfly hugs and a special blessing to each and every one of you! May your time with family be good and there hugs tight!
We know that we also span many religions and belief systems … and there is room for everyone here in the MLD Family. If Christmas is not your special day, we hope the spirit of Christmas – love, joy, peace and especially hope – envelopes you today and throughout the season.
I read a very poignant post from a MLD mom a day or two ago lamenting the fact that Christmas Day is anything but normal in their household with several MLD children.  The children, while sharing joy their own special way, were not able to “attack” the presents, the wrapping paper and the edible Christmas goodies as they once had.  Her sense of loss is immense.  For many we no longer have a loved one celebrating Christmas with us – another immense loss. We know both of these circumstances to be the case in our household and are sure it is the same for many and probably most of you too.  We change, adapt and make new traditions but still mourn what once was.  So for all of you we want to send a special butterfly hug and blessings – know you are not alone with your feelings.  We hope that in however you respond it leads to a day and season with happy memories, joy, peace and love.
Merry Christmas all,
Clinical Care Education General Newborn Screening Policy

Mld Family Conference™ – Register Now!

MLD Family Conference™ - Pittsburgh 2014 - low
MLD Family Conference™ – 2014 Pittsburgh … click to enlarge

Registration for our 2105 MLD Family Conference in Newark Delaware is underway and closes in just a couple of weeks.  If you are a MLD Family we’re anxious to have you register.

Many of your MLD Family will be there to meet, share, and socialize with.
Please bring your MLD loved one with you – we not only want to meet them, we have a special professional photographer to take your family’s photo while capturing the spirit of our special loved ones and the MLD journey through photography.
You will again find familiar faces in the Respite room to care for your other children and your MLD loved ones.
Those with MLD angels are always lovingly encouraged to attend – you have so much to share with the rest of us and you will surely find folks that “just get it”.
Conference details and an agenda are here:  We’ve organized some travel grants as well as registration scholarships if you need some help.
Some other highlights:
* Dr. Biffi will be attending (in person) and sharing/discussing the Milano gene therapy clinical trial.
* Shire will be discussing their ERT clinical trial status and sharing some interim results.
* Newborn screening … updates on the assay development, federal/state policy & actions, and the RUSP Roundtable we are organizing … and how you can help!
On Saturday, as usual, you will drive the Practical Care agenda, … including a discussion about medical marijuana  & CBD oil .
* We’re working hard on a special fun Saturday evening event, a memorial butterfly release, the traditional MLD “bashing”, and MLD After Hours.
We have many of the global MLD experts attending so you can meet them and ask any questions you may have.
With travel support and scholarships available, all you need to do is register!  You can defer paying the modest registration fees for a few weeks if you need to, but we want to know you are coming so we save the right number of sleeping rooms!
Awareness Clinical Care General Research

Centers of Excellence for Leukodystrophies and Lysosomal Disease

Earlier last month we had the opportunity to see several presentations about the Leukodystrophy Center of Excellence (CoE) at Children’s Hospital of Philadelphia (CHOP), which opened today, May 1st.
The mission of the [CHOP Leukodystrophy CoE] center is “to deliver cutting-edge, integrated, multidisciplinary clinical care, diagnostic evaluation, and therapeutics to infants, children and youth with inherited white matter disease.”
We are excited about the multi-disciplinary approach of collaborative and comprehensive care this center is now providing for leukodystrophy patients and families. Under the directorship of Dr. Amy Waldman, care plans are being developed by teams of specialists, with a designated CHOP care coordinator and extensive family/caregiver involvement. The CHOP team will include a standard suite of specialists and will include additional experts from other CHOP specialties who will come and go as situations arise. Appointments and treatments will be consolidated into one day’s visit, where possible, so families don’t have to make multiple trips to the CoE thereby improving the scope of care and reducing the burden on families and patients. We are planning to have representatives from CHOP come and present at our MLD Family Conference™ in Delaware this July.  We also hope to hear 1st hand reports from Philly area families about the CHOP CoE.
Dr. Escolar’s Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at Children’s Hospital of Pittsburgh, the White Matter Disease Program under Dr. Vanderver at Children’s National in DC, Dr. Eichler’s ALD Connect program at Boston Children’s, and the Kennedy Krieger Institute Moser Center for Leukodystrophies each offer similar but independent programs, each with their own focus and roots.
MLD Foundation is an avid supporter of helping these existing centers work more closely together to improve patient care for all the leukodystrophies and to improve how network and clinical data is gathered, shared, and studied to improve care, advance understanding, and expedite therapies. This will require helping the centers to work more closely, establishing common methodologies, expanding their capabilities to serve all leukodystrophies, and putting more uniformity and structure into the clinical care and research strategies.  As resources become available the program can be expanded to include CoE’s in other parts of the country so every leukodystrophy family has a CoE close to them.
We are actively working with GLIA (Global Leukodystrophy Initiative – a two-year old international collaboration of leukodystrophy clinical and research experts), industry pharma partners, advocacy groups, and other MLD experts to develop standards of care, registries for common data collection, resource directories, access to experts, training and awareness, and maybe even provide some seed funding to help new centers to launch.  Imagine if these experts were able to implement CoE’s for leukodystrophies at all of their home medical centers – what a powerful and accessible clinical care and research force that network would be.
MLD Foundation’s OpenNHS Manifesto offers a peek into how we think pre-clinical Natural History Study collaborations should operate.  We’re thinking the CoE picture should have similar overriding and undergirding principles. Maybe an OpenCoE Manifesto is in order?

Congratulations to CHOP!

Read CHOP’s press release here


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.