Category: Newborn Screening

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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 General Newborn Screening Research

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

#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!

Categories
Advocacy General Newborn Screening Research

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

#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!

Categories
Advocacy General Newborn Screening Research

Your Giving Keeps Us Going! #GivingTuesday

#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!

Categories
Advocacy Awareness Compassion Newborn Screening Research

MLD Newborn Screening Pilot Study – Announcement

Today is Rare Disease Day. It’s an appropriate day to announce we have come one step closer to a MLD Newborn Screen!

The pilot study to test the newly developed MLD Newborn assay/technique on current newborn babies born in Washington state will be starting within the next three months once testing lab equipment is in place.

tandem mass

The MLD Foundation will continue to push forward until all newborns are tested for MLD. Thank you Dr. Michael Gelb  for your tireless work to make MLD newborn screening a reality.
‪

#‎mldfamily‬ ‪#‎mldfoundation‬ ‪#‎FMLD‬ #fmld ‪#‎runovermld‬ ‪#‎rarediseaseday2016‬

Categories
Advocacy Awareness Education General Newborn Screening

MLD Foundation – Very Active This Rare Disease Day (2/29)

February 29th is Rare Disease Day this year.  1 in 10 – 30 million Americans – have one of the 7,000 rare diseases.

On this rare day take a look around – who is it in your circle that has a rare disease?

MLD Foundation is very busy this Rare Disease Day not only on behalf of metachromatic leukodystrophy, but also on behalf of all with rare diseases because at helps the rare disease community will help MLD along our journey.

Monday – Rare Disease Day at the NIH

  • One of 40 exhibitors and poster presenter at this very important Advocacy Day.  The poster is about the RUSP roundtable, and initiative focused on improving newborn screening.
  • RUSP Roundtable is a MLD Foundation organized, hosted and sponsored event that is a unique gathering of key opinion influencers in the newborn space representing clinicians, state & public health, advocates, genetics, genomic sequencing, industry, ethics, privacy, and more to improve newborn and childhood screening and health.
  • We are pleased to be the inspiration for newborn screening legislation just  introduced in California by EveryLife Foundation that will require California to quickly implement new screens as they are approved by the federal ACHDNC.  Right now each new disease requires legislative authorization.  This “Once and Done” legislation will be model legislation for all the other states.

Tuesday – Rare Disease Legislative Conference

  • Dean is the host and moderator for a day-long legislative training conference for nearly 300 advocates from e very state who have gathered in Washington DC.  This is his 3rd year in this role and he continues to make sure every advocate walks away better informed and more confident as they impact policy for all of us.
  • Newborn Screening breakout session presenter.  Dean is responsible for sharing a full overview of the process, status, issues, and opportunities in Newborn Screening.

Wednesday – Rare Disease on Capitol Hill

  • 300 advocates will split up to meet with all of their Congressional representatives using the training from Tuesday’s legislative conference to advance Rare Disease awareness and policy.
  • Dean is leading a group of advocates representing the Pacific Northwest for six meetings with our Congressional representatives.

Thursday – Rare Disease Congressional Caucus

  • The House has had a Rare Disease Caucus for quite a number of years.  New this year is a Senate Rare Disease Caucus.  The Senate has very few caucuses so this in itself is rather unique.
  • Dean will be attending the Rare Disease Caucus meeting to share the Rare Disease voice.

The month of February is Rare Disease Month – our time to increase awareness of the possibility of Rare Diseases as a diagnosis.  Please do your part – share these posts and plan a special event for Rare Disease Day.

Rare Facts – what we’ve learned so far …

 

 

 

Februrdd-logo-transparentary is Rare Disease month, culminating on February 29th – a Rare Day indeed – which is Rare Disease Day.

 

Sign up to follow this blog and be sure to share this post.

  1. Harvey, A. M.; et al. (1979). Differential Diagnosis (3rd ed.). Philadelphia: W.B. Saunders
  2. Imperato, Pascal James (1979). Medical Detective. New York: Richard Marek. ISBN 0-399-90058-6
  3. Sotos, John G. (2006) [1991]. Zebra Cards: An Aid to Obscure Diagnoses. Mt. Vernon, VA: Mt. Vernon Book Systems. ISBN 978-0-9818193-0-3
  4. https://www.sireninteractive.com/sirensong/findzebra-rare-disease-search-engine
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 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
Newborn Screening Research

MLD Newborn Screening – We need your blood & urine!

The MLD Foundation is collaborating with researchers at the University of Washington who are working on developing a newborn screen for MLD that would hopefully address the problems encountered with traditional screening approaches caused by the MLD pseudo-deficiency.

For their work they need samples of blood and urine from 15 affected MLD individuals. All samples would be anonymous/de-identified to the researchers.

Criteria for participating is:

  • A confirmed diagnosis of MLD (No age restriction)
  • No treatment (no transplant)
  • Living within the US (due to need for quick return once samples are drawn)
  • Willingness to prick the skin to obtain blood
  • Willingness to follow instructions to obtain samples
  • Agree to mail samples within 24 hours of obtaining them
  • Agree to release the MLD Foundation and the University of Washington from any liability

If you would like to participate, please send an email to research@MLDfoundation.org

We will respond with the release and send you the packet to obtain the samples.

We hope to have the sample collections completed in the next two weeks.

Thank you for considering to help develop a Newborn screen for MLD.

Categories
Advocacy Awareness Education General Newborn Screening Policy Research

RARE Patient Advocacy Summit – 2012

I was pleased to be the organizer and host for the RARE Project | Global Genes RARE Patient Advocacy Summit on September 29th, 2012. The day-long event with 140 in attendance and over 120 viewing via a live webcast.  Videos of the event are available below for viewing.

Continue reading “RARE Patient Advocacy Summit – 2012”