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.

Super Bowl Alternative – MLD Registry

Are you bored waiting for the SuperBowl pre-game? Or twiddling your thumbs while waiting for the next commercial to air?

If so, please take a few minutes and start to enter your data into the new MLD Patient-Powered Registry. We want to understand MLD better, accurately characterize the MLD patient, family, and caregiver journey, justify newborn screening, improve clinical care and of course, to improve research and approval of new therapies. We can’t do this without you!

YOU WILL GET SOMETHING BACK FOR EVERY QUESTION YOU ANSWER … the survey is designed to report back the results of everyone else’s answers as you complete each question so you will know if you are typical or a bit different than other MLD families. Of course, the first few of you filling in the survey won’t have a lot of other family’s data to look at but after the first 10 or 20 of you participate it will become a rich dataset.

WE NEED EVERYONE TO PARTICIPATE … Please note that we want to know about your MLD loved one(s), including MLD angels that live with us in our hearts. By sharing your experiences and data your loved ones will be part of changing the world for those that haven’t started the MLD journey.

YOU CAN PARTICIPATE if your loved one HAS ANOTHER LEUKODYSTROPHY or LYSOSOMAL DISEASE … We won’t ask you to fill out the MLD specific questions, but there is plenty to learn from the broader community as well.

We’ve been working a long time to get this survey launched … there are modules for you to complete at your own pace on demographics, diagnostics, therapies, cannabis, awareness, newborns screening and

You own your survey data and will always have 100% control over it. MLD Foundation will manage your data and creates the survey modules, Genetic Alliance developed and is hosting the survey platform, and Private Access will make sure that it is always secure.

Over the next few days we will tell you more about the survey and how we are using the data you provide.

At the Super Bowl we know there will be a winner and a loser … but rest assured that we all will win if you participate in the MLD Patient-Powered Registry!

Thank you!

5 Biotechs Actively Developing MLD Therapies

2019 is going to be a very interesting and productive year for MLD therapy development. The trials for both gene therapy and enzyme replacement therapy will be expanded and for the first time are headed towards sites in the United States. A third biotech has publically announced MLD is an active development candidate.

We are getting ever closer to a NDA* filing for review (and hopefully approval) with the FDA and other global regulatory agencies.

Last December we met and strategized with four pharma/biotech companies who are actively working on MLD therapies. For now, we cannot name one of those companies or talk about what they are working on but we will tell you about the others plus a fifth parter we are also working with. There is a sixth company under wraps – but that’s for another time.

MLD Foundation spends considerable effort working with academic, institutional, and corporate researchers around the globe helping to advance MLD basic research, influence clinical trial design and strategies, and expediting clinical trial development and recruiting. We are equally active and aggressive in diagnostics, including newborn screening, and policy related to regulatory approval, access, and reimbursement (including pricing). Our view certainly starts in the USA, our home country, however, we have a global footprint ad active connections from Australia, through southeast Asia, and across Europe.

TAKEDA (SHIRE) – Enzyme Replacement Therapy (ERT)
The acquisition of Shire by Takeda was completed yesterday (Jan. 8th). Part of Takeda’s interest in Shire was its extensive rare disease portfolio, including its lysosomal disease portfolio where is where the MLD ERT program resides. The company name is now Takeda, but the team working on MLD remains intact and is expanding slightly. Shire will open the next phase of their ERT trial in April with global recruiting of 35 late infantile patients including 10 sites here in the USA.

Orchard TherapeuticsGene Therapy
Orchard Therapeutics gene therapy program has an active trial underway (also for late infantiles) working to validate the freezing of the genetically modified material for transport to and from the Italian processing facility. This process has been validated previously by another company so it’s likely it will work. Once that is complete we expect Orchard to open global sites for future phases of their clinical trials, including sites in the USA.

Homology MedicinesGene Therapy
Homology Medicines has been working on MLD for quite some time without much public fanfare. Their gene therapy therapeutic approach is being validated in PKU. MLD was just given the go-ahead by their Board as their lead central nervous system product and will head into IND-enabling* studies. Homology has just moved into a new facility and will be doing their gene editing on site in their new manufacturing facility.

Both Orchard and Homology had initial public offerings in the US last year that are enabling their programs to progress quickly.

And a fifth biotech partner, Armagen, continues their clinical trial on another lysosomal disease alongside pre-clinical basic science work on MLD.

We will be sharing more on each of these programs in the coming days and weeks including how they might affect each of your loved ones and how you can help them move forward.

* NDA – New Drug Application is the formal application for FDA review and approval which leads to widespread availability of a new therapy or drug.
* IND – Investigative New Drug is the terminology used by the FDA as they consider an application for clinical trials in humans.

Christmas Message – to the MLD Family

It’s Christmas all over the world  … and is usually my tradition, I share some personal thoughts with all of you, my MLD Family.


As many of you know, we lost our Darcee to MLD in 1995 and while Lindy is still with us, she is losing the MLD battle bit by bit.  Tonight Teryn, Lindy and I shared a full turkey dinner … a quiet and special time.  It took a long time for Lindy to chew and swallow.  As her eating abilities decline, we don’t know, but this might be the last time she will eat a formal meal like this.  Throughout the meal she was vocalizing to us … and a couple of times it seemed she was trying so hard to get 2 or 3 words out – but we could not understand them.  We don’t know what she was trying to say, but when we snuggle with her and speak to her she always smiles so we have an alternate means of communication!
So that left Teryn and I to do the talking. We chatted for bit and then circled around to a MLD family that we know who has one child in transplant, and a second who is headed to Milan today (Christmas day) for gene therapy. We have become very tightly engaged with this family having walked the journey after being able to meet them just 48 hours after thier first child was diagnosed.

Earlier tonight at Christmas eve church service we crossed paths with a friend we had not seen for several years.  She lost one of her children to SIDS many years ago … in December.  Which reminded us of another MLD family who is very close to us who lost their daughter to MLD in December, and of course our Darcee’s angel date in December 16th.

Christmas is a time of great joy for many children and families … but it is often mixed with the sadness of a loss of a loved one – either as an angel or perhaps just the continued progression of MLD.  For those of us who are Christians there is often conflict with the expectations of joy this time of year.

Life is complicated.  And with MLD, like so many other rare diseases, the path is uncertain, and full of both expected and unexpected surprises.  Some of those surprises knock us off our feet and take our breath away replacing it with despair and sadness … and others – often simple little things – bring smiles, happiness, contentment, and joy.
So wherever you are on the journey and whatever you are feeling … I can only share what works for me … its the joy of the greater MLD Family that loves and cares for each other.  We have personally met many of you, talked with others over the phone, shared personal email conversations. I am honored to know you and your MLD loved ones.  I am honored to be able to represent you as we do the work of MLD Foundation on behalf of each of you.

Please give a hug, hold a hand, speak kindly, and/or share a smile with all of those around you this holiday season.  Find a moment (or more) of joy – I know it’s in those around you.  And especially if you are struggling, reach out.  We are all here for you!
For those of you that lost a loved one this year, or anytime, and struggle with Christmas and the holidays, I dedicate the following song to you.  May its message of love and peace give you comfort …

Merry Christmas,
Dean (and Teryn & Lindy too!)         —

Listen to the song here:https://www.youtube.com/watch?v=0yFXfAGl17M

The story behind this Song:
“So last year, was a really tough year for us.  We lost our daughter, Annie.  People talk about grief, pain, fear, sorrow.  All of these words, can’t really describe how you feel when you really go through the loss of a loved one.  Even though we held onto hope, that we would somehow see her again, it was just a brutal time that we were going through, right at Christmas.  It felt pretty hard to celebrate.  
And then I found this song.  It was just a video on Facebook by this Christian artist and he was singing about the very struggle I was having.  As my wife and I listened to the words of this song, it expressed exactly what we were feeling. It also gave us what we needed at the time.  That was comfort.  So many people struggle with loss at this time of year, not just me.  If you are missing someone this Christmas, I want to dedicate this song to you.  I also want to dedicate it to Annie, my sweet Annie, who I miss very much.”-Jon Schmidt
Lyrics:I’m not going to lie.Christmas really hurts this timeCause you’re not here to celebrate with me.Tears fill my eyes.And memories flood my mind,As I place your ornament upon our tree.Although this year I have a broken heart,It gives me hope and joy as I remember where you are.  
Chorus:You’re with the Son of God.You’re with the Prince of Peace.You’re with the one we’re celebratingAnd that thought amazes me.Sometimes I still break down,Grieving that we’re apart,But the sweetest gift is knowing where you are.You’re with the Son of God.
Got your picture in a frame And a stocking with your name.Oh God knows it’s been hard letting go. And I can’t bring you back,But I’ll see you again.And oh, that thought is healing to my soul.I’ll miss making angels with you in the snow.I guess instead you will be singing with them All around God’s throne.
Chorus
And I know the Christmas seasonWas your favorite time of year.You loved to help us decorate our tree.But now that you’re with Jesus,I can’t imagine how you feelCause He’s the one who bled and diedUpon the tree for you and me.
Chorus
Credits: “The Sweetest Gift” written by Craig AvenProduced by Jon Schmidt and Chuck E. Myers “sea”Arranged by Jon Schmidt, Chuck Myers, Al van der Beek & Steven Sharp NelsonCraig Aven: VocalsJon Schmidt: PianoSteven Sharp Nelson: CelloPiano and vocals recorded by Jake Bowen at Big Idea StudiosCello recorded by Al van der Beek at TPG StudiosMastered by Al van der Beek
Video Produced and Filmed by Paul Anderson & Shaye ScottVideo Edited by Shaye Scott & Paul Anderson
#thepianoguys#pianocello

— 
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.

Your Giving Keeps Us Going – and directly helps families! #GivingTuesday

#GivingTuesday is Here!

Here in the US we celebrated Thanksgiving this past weekend.  It’s a time of family, thanks, and giving.  Most of us “gave” at the mall on Black Friday or online on Cyber Monday … but now it’s #GivingTuesday, an annual day where the world comes together to give.

November is MLD Foundation’s second busiest travel and meeting time … so much so that we have yet to decompress and summarize all that we have done. Your generous gifts are what enables us to work on your behalf!

We’ve Been Busy!

We’ll send out some summary postings over the next few weeks, but in the meantime, here are a few highlights of our last 60 days …

  • We are working with yet another drug company on a MLD therapy … and one therapy might see an FDA registration next year!
  • MLD gene therapy has a new owner, Orchard Therapeutics … and they are moving much more quickly than the prior owner.
  • The MLD newborn screening pilot study is making great progress and we are preparing to launch in another state in a few months.
  • Met with a pharma partner to help advance an ongoing genotype-phenotype study they have underway,  This will be important to try to determine what form of MLD progression is expected if a baby is diagnosed at birth … and potentially for those diagnosed with early symptoms too.
  • Attended the annual Rare Diseases and Orphan Products Breakthrough Summit sponsored by NORD.
  • Met with industry, BIO, and numerous advocacy organizations to drive collaboration on rare disease policy – especially for ACA and Orphan Drug Tax policy issues.
  • Met with another Pharma company who detailed to us some success and roadblocks for their therapy development.

And Most Importantly …

  • Continued our Compassion support for families … recently on the phone and in person in California, Maryland, Colorado, and even Perth Australia, and around the globe via email and social media. We’ve recently helped families get confirming diagnostics, make therapy decisions (including gene therapy, stem cell transplant, and no therapy), connect with clinical resources, obtain wheelchair vans and other equipment, and have been a source of direct financial support when unexpected expenses have arisen.

Please remember to give on #GivingTuesday to support MLD Foundation! There are no salaries paid here – all donations go directly to Compassion support for families and to advance MLD Research and Awareness.

http://mldfoundation.org/donations.php

 

Thank You!

Your Giving Keeps Us Going and directly helps families! #GivingTuesday

#GivingTuesday is Here!

Here in the US we celebrated Thanksgiving this past weekend.  It’s a time of family, thanks, and giving.  Most of us “gave” at the mall on Black Friday or online on Cyber Monday … but now it’s #GivingTuesday, an annual day where the world comes together to give.

November is MLD Foundation’s second busiest travel and meeting time … but this month we had an exceptionally busy time supporting families as well. Your generous gifts are what enables us to work on your behalf!

We’ve Been Busy!

We’ll send out some summary postings over the next few weeks, but in the meantime, here are a few highlights of our last 60 days …

  • We are working with yet another drug company on a MLD therapy … and one therapy might see an FDA registration next year!
  • MLD gene therapy has a new owner, Orchard Therapeutics … and they are moving much more quickly than the prior owner.
  • The MLD newborn screening pilot study is making great progress and we are preparing to launch in another state in a few months.
  • Met with a pharma partner to help advance an ongoing genotype-phenotype study they have underway,  This will be important to try to determine what form of MLD progression is expected if a baby is diagnosed at birth … and potentially for those diagnosed with early symptoms too.
  • Attended the annual Rare Diseases and Orphan Products Breakthrough Summit sponsored by NORD.
  • Met with industry, BIO, and numerous advocacy organizations to drive collaboration on rare disease policy – especially for ACA and Orphan Drug Tax policy issues.
  • Met with another Pharma company who detailed to us some success and roadblocks for their therapy development.

And Most Importantly …

  • Continued our Compassion support for families … recently on the phone and in person in California, Maryland, Colorado, and even Perth Australia, and around the globe via email and social media. We’ve recently helped families get confirming diagnostics, make therapy decisions (including gene therapy, stem cell transplant, and no therapy), connect with clinical resources, obtain wheelchair vans and other equipment, and have been a source of direct financial support when unexpected expenses have arisen.

Please remember to give on #GivingTuesday to support MLD Foundation! There are no salaries paid here – all donations go directly to Compassion support for families and to advance MLD Research and Awareness.

http://mldfoundation.org/donations.php

 

Thank You!

Always Thankful !!!

We are thankful …

  • for you,
  • your support,
  • and all of the MLD progress this year!

Teryn and I are so thankful for the wonderful people we meet as we both live with MLD (Lindy turned 38 this year!) and support families with MLD. We’ve met dozens of new families this year, many in person, as we answer questions and provide guidance on therapies and clinical care.  We’ve followed the journey with other families who lost their loved ones this year –while sad, it’s a great time of sharing and support. And, we are working with an even better and bigger team of researchers and biotech/pharma partners to get therapies to market!


We’ll provide more details on 2018’s highlights in our December update, but here are a few key items:

  • We are working with yet another drug company on a MLD therapy … and one therapy might see a FDA registration next year!
  • MLD gene therapy has a new owner, Orchard Therapeutics … and they are moving much more quickly than the prior owner.
  • The MLD newborn screening pilot study is making great progress and we are preparing to launch in another state in a few months.

If your inbox is anything like mine, it’s full of requests for support.  Nevertheless, we want to gently remind you that we need your support too! .. and we want to make it easier than ever, too.

Amazon Smile donations are FREE to YOU and are now easier than ever!  In the past, we have asked you to bookmark and start your shopping at  https://Smile.Amazon.com every time you shop at Amazon.  When you start there Amazon donates 0.5% of the value of your order to MLD Foundation at no cost to you.  While this still works, it turns out that most folks forget to start at the Smile page.  Now we have a couple of browser extensions you can load and they will automatically make sure we get credit for your order every time.  Simply load them once and shop!

Of course, a regular donation is always appreciated.

YOUR generous help makes our work possible. All of your donation goes to advance our We C.A.R.E.™ mission … no salaries are paid at MLD Foundation.

Thank You!


Safari Extension Installation Instructions.

Please note that we are working to make this process automated and IOS compatible. Right now it works only on laptops and desktops.

  1. Go to Safari->Preferences->Advanced
  2. Check “Show Develop menu in menu bar”
  3. Go to Safari->Show Extension Builder
  4. Click on the “+” on bottom left and choose “Add Extension…”
  5. Choose the KeepOnSmiling.safariextension folder inside the folder you just downloaded using the provided link (inside your Downloads folder).
  6. Choose “Install”

For more information visit MLDfoundation.org or email us at info@MLDfoundation.org

GSK Launches Phase 3 Cryopreserved Gene Therapy Clinical Trial

New Clinical Trial for MLD

GSK has just launched a Phase 3 clinical trial to study the efficacy of a cryopreserved formulation of their gene therapy, i.e. freezing the modified cells before transfusion.

Recruiting of pre-symptomatic late infantile and early juvenile patients will start immediately.

This study still requires patients to travel to Milano, Italy for their transplant – similar to how previous patients have accessed the San Rafaelle gene therapy.

Laying The Groundwork for Sites in Other Countries

Most notable is that this trial lays the groundwork for patients to eventually access the gene therapy in a local medical center outside of Italy.  Their cells will still be genetically modified in Italy – the cryopreservation allows for international transport of the modified cells.  In the USA, the next step would be a New Drug Application (NDA) to seek approval for offering the gene therapy in the USA.

Inclusion criteria can be found here. We are happy to discuss this trial and inclusion criteria with any of you tat think you may be eligible.  We know the Principal Investigator in Italy well and can help you with the referral process to assess eligibility.

Deeper Dive

For those of you wishing to dig  little deeper, here’s a good article about gene therapy cyropreservation  – in general, not necessary reflecting the the GSK/San Rafaelle flow or specific issues.

Please subscribe to this blog (button in the upper right part of this page – if you are reading this in email you are already subscribed!) to be kept up to date on this new Clinical Trial.

Your Giving Keeps Us Going! #GivingTuesday

#GivingTuesday is Here!

Here in the US we celebrated Thanksgiving this past weekend.  It’s a time of family, thanks, and giving.  Most of us “gave” at the mall on Black Friday or online on Cyber Monday … but now it’s #GivingTuesday, an annual day where the world comes together to give.

November is MLD Foundation’s second busiest travel and meeting time … so much so that we have yet to decompress and summarize all that we have done. Your generous gifts are what enables us to work on your behalf!

We’ve Been Busy!

We’ll send out some summary postings over the next few weeks, but in the meantime, here are a few highlights of our last 60 days …

  • Teryn was an invited panelist to a Social Security Administration event on SSI Compassionate Allowances where she presented the case to add juvenile and adult MLD to the CAL … and also insight on how SSA can be more effective n supporting families.
  • Attended the annual Rare Diseases and Orphan Products Breakthrough Summit sponsored by NORD.
  • Met with industry, BIO, and numerous advocacy organizations to drive collaboration on rare disease policy – especially for ACA and Orphan Drug Tax policy issues.
  • Met with another Pharma company who detailed to us, for the first time, the details of their internal development work on MLD.  That makes 3 companies who have active MLD projects plus at least two more we cannot name just yet.
  • Hosted a MLD Newborn Screening Summit in Philadelphia with some 40 experts attending to focus our collaborative efforts to get MLD newborn screening (NBS) going in the US and abroad.  The lab test results for the proposed screen are looking very good but there is much to do to get this ready for population-wide public health implementation.
  • Met with a well respected and very knowledgable doctor/researcher who is anxious to pursue more MLD work … and is an active advisor/consultant for pharma and biotech investors.
  • Working to bring two more strains of MLD mice to the US from Germany. MLD Foundation brought the first strain to the US in 2011.
  • Continued our Compassion support for families … on the phone, in person in Philadelphia and Boston, and around the globe via email and social media. We’ve recently helped families get confirming diagnostics, make therapy decisions, connect with clinical resources, obtain wheelchair vans and other equipment, and have been a source of direct financial support when unexpected expenses have arisen.
  • We even provided video and live streaming support for GLIA, the Global Leukodystrophy Initiative so leukodystrophy researchers can better collaborate.

Please remember to give on #GivingTuesday to support MLD Foundation! There are no salaries paid here – all donations go directly to Compassion support for families and to advance MLD Research and Awareness.

http://mldfoundation.org/donations.php

 

Thank You!

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