Category: Policy

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Awareness Clinical Care Compassion Education General Newborn Screening Policy

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.

Categories
Advocacy Awareness Education Policy

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

Categories
Advocacy Awareness Education General Policy

Our first Rare Disease Week in DC

rare disease week Capitol Hill group photo 2017


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.

Categories
Advocacy Awareness Compassion General Policy Research

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 …

Categories
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: http://mldfoundation.org/mldfc/mld2015-de.php  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!
Categories
Advocacy General Policy Research

Join our call for OPEN Natural History Studies

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

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

Say it’s not true … New Zealand proposes NO access to an “effective therapy” for a rare disease

Has my Sunday morning coffee not kicked in?  Am I reading this wrong? Tell me it’s not true …

  • Alexion has an “effective therapy” for paroxysmal nocturnal haemoglobinuria
  • New Zealand is proposing to decline access to therapy for its citizens  … not because it does not work – they acknowledge it is an “effective therapy” – rather, they think it’s too expensive.
  • Less than 5% of the over 7,000 rare diseases have therapies and they want to hold one of the few back !!!!!!????

Until this morning, I didn’t even know what paroxysmal nocturnal haemoglobinuria (Marchiafava-Micheli syndrome or PNH) was – all I need to know was they are fellow brothers and sisters with rare disease.  We must come to their support.

Enough already!  Well over 95% of the rare diseases are struggling to understand their disease and develop therapies … yet here we have a disease with a therapy that some bean counting bureaucrat says $$ x number of patients = too much.  What they conveniently ignore in their public stance is that Alexion, like all rare disease drug companies, will work with countries that need help to offset the list price because they care about the patient.  PHARMAC (New Zealand’s purchasing agency) you should care too!

We must not allow any more piecemeal incursions on the progress we are making towards therapies for all rare diseases.  If your disease is lucky enough to have a therapy in the future – the PNH struggle could be yours.  We must education and inform now!

So what can or should you do?  read on – it won’t take much time…

Continue reading “Say it’s not true … New Zealand proposes NO access to an “effective therapy” for a rare disease”
Categories
Advocacy Newborn Screening Policy Research

Newborn Screening – Should a Viable Therapy be a Requirement for a NBS?

The requirements for adding a Newborn Screen (NBS) to the RUSP (Recommended Uniform Screening Panel by the SACHDNC/DACHDNC (Secretary’s Discretionary Advisory Committee on Heritable Disorders in Newborns and Children) consists of four primary criteria:

  1. An acceptable treatment protocol in place that changes the outcome for patients diagnosed early with the disease
  2. An understanding of the condition’s natural history
  3. An understanding about who will be treated as a patient
  4. A NBS screening test that is reliable for both affected and unaffected patients and is acceptable to the public.

We are slowly becoming better at identifying and diagnosing Rare Diseases, unfortunately diagnosis occurs most often after symptoms are presenting. The great majority of the 7,000+ rare diseases do not have efficacious therapies. More than half of all rare diseases affect children and 30% of those children will not live to see their 5th birthday (1).

“There is always a therapy – it may not be a cure or a disease specific treatment, but we can always do something to optimize quality of life.” Paraphrase of Dr. Marc Patterson from the Mayo Clinic, Rochester MN.

With MLD and many other rare diseases, the diagnostic odyssey can last years and usually there are multiple misdiagnoses along the way.  If we don’t know what disease we are dealing with we can’t be sure we are providing the best care. A NBS for MLD, even without a treatment, would avoid the diagnostic odyssey and allow parents to know up front what to anticipate for the best care of their child – resulting in an optimized quality of life for their child and for the family.

There are good arguments for requiring a viable treatment before formalizing a NBS as well. Test and treat – don’t create a sense of helplessness and panic where there is no therapy. Don’t cause parents to take desperate actions to “do anything” for their child.

In the absence of a viable treatment a whole slew of questions come to mind … who is going to follow up with and provide social and medical care for the family, is there a financial impact on society for increased earlier care, would the role of the family support organizations change, what about the ethics of detecting a disease with a later onset, or parents that want to opt out except for disease with viable therapies, etc. …

Parents and families are starting to clamor for more medical knowledge sooner so they can better care for their children and industry is also awakening to the advantages of a pre-viable-therapy NBS – the potential negative this would have on the ability to capture natural histories that are necessary to get therapies approved being traded off for the identification of patients for potential study and real disease prevalence information.

I am calling for a NBS Therapy Summit or series of summits in the near future, perhaps starting next fall or winter, to encourage all interested and affected parties to share their concerns, views, issues, and thoughts.  An open discussion will give us all indications as to if the viable therapy requirement should be reconsidered.  If you are a public health official,  researcher, policy/regulatory person, SACHDNC committee member, parent, advocacy group member, an industry representative, clinician, or just interested in this topic I encourage your participation.

Follow this blog and I will keep you posted on any progress towards a summit..

Categories
Advocacy Awareness Policy Research

Rare Disease Advocacy – Behind the Scenes

I ran across this article a few minutes ago. It’s a great insight into the challenges those of us working in rare disease advocacy working encounter.

Every person and agency mentioned in this article is someone we at the MLD Foundation regularly come into contact with as we work on behalf of those with MLD.
http://cen.acs.org/content/dam/cen/91/19/09119-cover.pdf

Categories
Policy Research

US Announces BRAIN initiative with $100m of 2014 funding

President Obama today announced the Brain Research through Advancing Innovative Neurotechnologies (BRAIN) initiative and an anticipated $100M of US government funding in the next fiscal year. That is part of several hundred million more committed by private partners and foundations to this project to better understand how the brain works.
http://www.nih.gov/science/brain/

NIH Director Francis Collins discussing the BRAIN initiative

NIH Director Francis Collins – “It aims to bring together nanoscience, engineering, and neurology to make sense of how the brain works—how those circuits in the brain allow us to do all the complicated things that we currently don’t understand.”

There is a lot to understand and while we love the focus on the basic science of the brain – we anxiously await, and hope to contribute to, the goals of this project. And we can’t forget the European Commission’s €1bn award to their Human Brain Project.
http://www.publicserviceeurope.com/article/3011/graphene-and-brain-projects-win-1bn-eu-competition

What do you think? How would you like to see all of this support work together?

Not everyone is pleased: http://www.guardian.co.uk/commentisfree/2013/apr/02/president-obama-brain-mapping-project-not-ideal