New Year’s Reflections … and Highlights from December Meeting in Boston

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Happy New Year!  As we head out of the holiday season and into a new year, it is a time that we reflect on life, cherish family, and count our blessings for all that we hold close to our hearts. Holiday music has been playing everywhere you go for the past month; while I enjoy all of the holiday songs, one song in particular, “Grown-Up Christmas List”, profoundly speaks to me at this point in my life. The lyrics are:

“No more lives torn apart,

And wars would never start,

And time would heal all hearts.

And every one would have a friend,

And right would always win,

And love would never end

This is my grown-up Christmas list.

This is my only lifelong wish”

YES. With the commercialism of Christmas in today’s society, much of this gets lost in the shuffle. But for me, and for what my family has endured as a result of the devastating effects of MLD, my grown-up Christmas list goes far beyond gifts wrapped beautifully under a tree. For me, since MLD has been in our lives, the loss we and others have experienced glaringly exposes the lies of commercialized Christmas. Shiny presents under the tree do not address our hopes and dreams. What we want is life for our children, hope for future families receiving a diagnosis of MLD. My lifelong wish is to see a cure for MLD, so that no other child has to endure what my beautiful girl, Emily, has had to endure. So that the pain caused by MLD would be avoided, and so that families receiving an MLD diagnosis would not be faced with little to no options. Emily Pierce - 2014

A few weeks ago, in mid-December, I had the privilege of attending a meeting organized by Dean & Teryn Suhr (MLD Foundation) with Dr. Alessandra Biffi and Dr. Florian Eichler at Mass General Hospital in Boston, MA. I came away from the meeting feeling like I had received a grown-up Christmas gift…two leading doctors/researchers investing and caring for OUR children and OUR rare disease. It was encouraging and refreshing. The goal of the meeting was to lay groundwork for future interaction; to discuss initiatives and action plans to make progress. [Dr. Biffi is on the MLD Foundation’s Medical and Scientific Advisory Board]

There is much to be done. Dean and Teryn are behind the scenes, pushing for good communication between those involved. Their involvement is a personal agenda that bears the weight of all of our hearts, collectively. They ultimately are fighting the MLD battle on the front lines for all of us. Dr. Eichler has been involved over the last 18 months creating a clinical & research community for ALD (adrenoleukodystrophy) called ALDConnect. The registry and community they created is a good prototype for what we can create for MLD patients to help advance research. Dr. Biffi and Dr. Eichler discussed what type of information would be helpful to obtain from MLD families. A similar patient-powered registry for MLD is in the final stages of debug by MLD Foundation (as a result of a federal grant like ALDConnect) and will be rolled out shortly. We, as the MLD Family, will become ultimately responsible in ensuring the success of information collected. A collection of information is vital for researchers to use in searching for a cure for MLD. We, as families, hold the KEY TO INFORMATION that is beyond valuable. It is my hope that we can harness our information and use it to its greatest potential.

In addition, we discussed the idea of Centers of Excellence, and what that could look like for MLD families. There is a tremendous need for knowledgeable and highly qualified centers for MLD patients and their families. Too often, our local doctors do not have the expertise or knowledge to adequately support MLD patients. With the help of a Center of Excellence, families would receive specialized care at a center, with support given to local medical teams.

Teryn’s work with developing a Newborn Screening Test for MLD was discussed. At this point a pilot study is being planned. The hope is that a 2016 pilot study will prove the test is reliable and credible. This would be HUGE!

It is very exciting to have Dr. Biffi now in the U.S. working on behalf of MLD.  It is my hope that new interest will be sparked throughout the U.S. because of her presence here. As families who have been involved with Dr. Biffi’s gene therapy work in Italy have already experienced, I was greatly impressed by Dr. Biffi’s genuine concern for MLD and desire to make a difference. We, as MLD parents, obviously want to see research done on MLD because our children have been deeply affected by it. It is refreshing to see doctors with a heart for MLD born out of their own desire to make a difference.

At one point during our meeting we discussed the burden of responsiblity that many MLD families feel in paying it forward…helping others that will come after us even if our own children may not benefit. Dr. Biffi recognized that this has affected her very deeply in her own research and experience with MLD. She personally has experienced the selfless attitude of many families to do whatever it takes for the greater good, to make the world a better place in the future for MLD, even if we may not benefit immediately from it. I was touched by her emotion and recognition of the heart of MLD families as a whole.

Ultimately, I am encouraged. Things are happening for MLD, research is being done. Not as fast as I would like, but at least it is progress. Maybe, just maybe, our hope of a cure is coming….

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