Did you know that today, Tuesday, December 1st, is Giving Tuesday?
After a month of “Black Friday” and yesterday’s “Cyber Monday” frenzy, it’s a day to focus on our loved ones!
We aren’t asking for your donations …
MLD Foundation knows that MLD families have their hands full with their loved ones so for the past two decades we’ve made it our practice to not directly ask you to be our primary source of financial support.
But with that said, we are so thankful for the many families over the years who have organized events and fundraisers … and we are so humbled to be remembered when loved ones get their angel wings.
We are asking you to please share with your friends, extended family, …
Today we’re asking you to share with your extended family, friends, neighbors, co-workers, and social networks how important and impactful MLD Foundation has been to your family. We need your help to ask for their support!
How we use donations …
We are frugal with all donations … they go directly to expenses surrounding our core We C.A.R.E.™ mission …
We C.A.R.E.™ … Compassion for families, increasing Awareness, influencing & funding Research, and promoting Education for metachromatic leukodystrophy, a very rare terminal genetic neuro-metabolic disease where over half the cases affect infants.
Since our founding, we have not had any paid staff, all of our work has been a labor of love … no donations have gone to salaries.
2021 will be busy and productive
As we highlighted in last week’s Thanksgiving blog, 2020 has been a very productive year, and 2021 is looking to be the same.
We have a major multi-year project underway making newborn screening a reality for all families worldwide so children have the broadest and optimal choice of therapies while their loved ones are pre-symptomatic and therapies are most effective.
But that’s not all – we are working to assure access and reimbursement for the gene therapy emerging in the EU, we’re supporting the submission and review of gene therapy by the FDA in the USA, increasing physician and family awareness, improving clinician education, developing an MLD Standard of Care, and supporting a number of new therapies in development and under clinical trial at nearly a half dozen biopharma companies, and so much more.
Please share … a few moments of your time will allow us to to keep serving you!
We heard earlier this week that nearly 4 in 5 people are already looking forward to putting 2020 behind us. The pandemic (family safety, work, school, loss of loved ones, individual and community response, social isolation, etc.), US elections, income, health, … it is affected every one of us, and it’s overwhelming.
But we are still thankful…
… not for MLD, not for loss, but for all of you – our friends, family, the MLD Family™, the greater MLD community, the MLD researchers and clinicians, regulators, policymakers, and the rare disease ecosystem who supports us.
The MLD Family™ …
… is supporting each other. There is advice, compassion, and the sharing of excess or needed supplies. We can’t meet in person, but we’re connecting with regular men’s, women’s, and now couple’s calls and so much more as we adapt to new ways of connecting.
MLD Research is progressing …
Orchard Therapeutics has achieved EMA/CHMP recommendation for approval of gene therapy in Europe. They have also filed an IND with the US FDA, a key stepping stone formalizing communications with the FDA as they move one step closer to US review and approval.
Takeda continues its ERT clinical trial. Homology Medicine continues to make pre-clinical progress with their gene therapy. And we are working with several other biopharma companies, too!
MLD Newborn Screening …
We have to diagnose children earlier in order for them to have good viable life-saving therapy options!
The MLD Newborn Screening program is making great progress. New York is right on the cusp of launching an MLD pilot study into parts of their state. The MD NBS Expert Advisory Group is meeting monthly. Many of you are participating with the Working Focus Groups – you can still join us for our December meetings!
MLD Cinical Care Continues to Improve …
We are blessed to have many wonderful and knowledgable MLD clinical researchers … we still need more, but those who do support our community are open, supportive, and often go the extra mile as they care for our loved ones in person or remotely. We worry about their health as they are called into care situations where additional COVID resources are necessary – let’s all keep doing our part to keep these COVID care needs minimized and our clinicians safe!
In 2020 we started to lay the foundation for creating an MLD Standard of Care so we can all more easily get approval and reimbursement for better, more consistent, and more appropriate MLD clinical care.
Let’s keep connected …
Subscribe to this blog to be kept updated on therapeutic advances and ongoing efforts to improve other aspects of MLD quality of life.
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!
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.
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.
A MLD mom recently asked about donating her son’s brain and other tissue to research after he passed. There is no more personal or profound donation that can be made to advance MLD research. This post is a lightly edited copy of my response to this special MLD mom …
It’s always difficult to talk about tissue donations. It’s a very sensitive and personal topic. Our desire at MLD Foundation is that you be informed and consider tissue donation … it is critical that researchers have access to MLD tissues, including brains and other organs, to better their basic science understanding and to focus and expedite their work toward therapies.
UMB Brain & Tissue Bank at the University of Maryland
We currently recommend the UMB Brain & Tissue Bank at the University of Maryland.
We have visited them several times over the years, met with and queried their staff, and know first hand they treat every sample with the greatest respect. They have been a primary national tissue bank for the NIH (National Institutes of Health) for over 15 years and allow access by non-NIH researchers from academic institutions and pharma companies so donations them them are very accessible.
They do all of their work behind the scenes and while they prefer the donation paperwork to be signed and placed on file in advance with them and your local care team, they can often work quickly if things suddenly take a turn for the worse and they need to move more quickly.
What does this cost? Can I have a normal memorial and viewing?
There is no cost to your family. Taking tissue samples does not affect your ability to have any form of traditional memorial ceremony or viewings.
We are happy to help you along in this process. MLD tissue, especially brain tissue, is very valuable. Don’t worry that you do not live in the Maryland area – they can arrange for the tissue samples to be taken in nearly any city across the US.
p.s. MLD Foundation is investigating using additional tissue banks, but the Univ. of MD is currently our primary choice for donations. Keeping as many samples as possible in one place as opposed to scattering them at multiple institutions makes the tissues a more accessible and valuable resource.
I 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 office 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
We 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.
A 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
I 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.
Ok , 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 …
One 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.
#FMLD … 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.
For those of you who know me, I have been a teaching computer skills to middle school kids for 17 years!. While I love school now as a teacher, I did not enjoy all aspects of school as a student. My favorite classes were Science and Gym! Social Studies, not so much! Shhhhh….. I really had no interest in our government. Politics…….yuck!!!!!
So you can imagine my terror when Michelle Pierce, one of my best friends and another MLD Mom, sent me an email inviting me to join her on a trip to DC for Rare Disease Week. Buzzwords like: “Legislative Conference” & “Day on the Hill” were making me wish I would have paid more attention in Social Studies class! However, knowing that we would have a blast together as we always do and knowing we could help our MLD Family was an honor I was not going to pass up.
On the Sunday before I departed for DC, I got a very unfortunate phone call from Michelle saying that Emily had a fever and was not feeling well. Monday poor Emily was feeling worse and was admitted in the hospital. You all know as MLD parents, sometimes our little ones have a different agenda. (Please say a prayer for Michelle, Emily and their family as of today they are still in the hospital. http://www.caringbridge.org/visit/emilypierce )
Now it turned out that I was headed to DC sans-Michelle. . I arrived late Monday night, met with Dean for a bite to eat and to discuss the agenda for the next two days.
Tuesday was our “learning” day. We attended the Legislative Conference from 8:30am – 5:30pm. The day started out with an AMAZING breakfast followed by the Welcome which was conducted by our very own Dean Suhr! (Dean, you did a great job by the way 🙂 …. we need to get you a bell for the next MLD Family Conference 😉 )
The rest of the morning there were discussions on the upcoming election, appropriation process, and information on the FDA, PDUFA, and NIH (a lot of acronyms).
Before we broke for lunch we discussed the OPEN Act Accelerating Cures and Treatments, the Rare Disease Caucus, Patient Focused Impact Assessment Act, and the Rare Disease Fund Act of 2015. These were the very things we were going to “Ask” for in our meetings on Capitol Hill the following day.
After lunch we discussed strategies on how to attend meetings. Topics discussed were: How to build relationships with members of Congress, sharing our advocate stories, congressional scorecards, hill asks and leave behinds.
They put on a very entertaining and informative skit on what to not do and what to do at our Congressional meetings followed by breakout sessions.
The final step of the conference was to break out into our groups that would be visiting senators and congressman from our state. It was amazing getting to know the group of advocates from NJ.
Some advocates were parents like me, some were grandparents, there was a mother and daughter and some amazing people who had rare diseases themselves.
The next day was the “march on the hill”. We had an agenda to meet with Senators and Congressmen from NJ. Mostly we met with their office staff. Never underestimate the staff personnel. They are the right hand men and women of your senators and congressman. They hear advocate’s stories and direct connections to the things we are trying to pass on the hill and report back to them with a “this is a worthy cause, let’s endorse” or “this may not be the direction we want to take”.
After meetings all day, I have to say each and every congressional representative we met from NJ was open and receptive to the things we were fighting for.
We even had an unexpected meeting with a member of Congress during lunch. He joined the rare disease caucus right on the spot and endorsed the Open Act. Pretty amazing stuff. (As an inside joke, all credit goes out to a cookie…. ask me about it the next time you see me!).
Overall, it was an honor to increases awareness of MLD as a rare disease and to represent all of you as a MLD mom on Capitol Hill. I strongly recommend all of you to participate if you can next year!
p.s. [from Dean] … Thanks, Kim. I was thrilled to have you there, too! I look forward to a bell – and a cookie at our upcoming MLD Family Conference (July 15-16)!
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.
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.
When we hear “clippity clop” our brains immediately think horses.
Zebra is the American medical slang for arriving at an exotic medical diagnosis when a more commonplace explanation is more likely. It is shorthand for the aphorism coined in the late 1940s by Dr. Theodore Woodward, professor at the University of Maryland School of Medicine, who instructed his medical interns: “When you hear hoofbeats, think of horses not zebras“. Since horses are common in Maryland while zebras are relatively rare, logically one could confidently guess that an animal making hoofbeats is probably a horse. By 1960, the aphorism was widely known in medical circles.
The National Organization for Rare Disorders (NORD) estimates that it takes an average of 9 years for a rare disease patient to get an accurate diagnosis. Our experience with MLD is not that long, but it can easily be 6-12 or even 18 months for the late infantiles and 2-3 years or more for the juvenile MLD patients to be diagnosed. Too many are thinking horses, not zebras!
As an Advocacy Group leader, we often receive phone calls from families wanting to know how to cure MLD because the family thinks their symptoms match according to what they found online using “Dr. Google” and “Dr. Facebook”. After lengthy conversation we often shed additional insight and guide the family another direction – often in the midst of what is a moment of more frustration and uncertainty, but hopefully also with a bit of hope they are getting closer to finding their own zebra.
Some very creative types from the Technical University of Denmark, including Radu Dragusin, have launched a search engine dedicated to helping physicians diagnose rare diseases called FindZebra.com. But doctors will not use the tool if they keep thinking horses.
And also, please remember that it’s not just doctors that raise yellow flags about rare disease. Parents, teachers, friends, and other children often have insight that something is wrong.
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.
If everyone with a Rare Disease lived in the same country we’d be the 3rd most populous country in the World!
Rare disease affects all population groups in all countries and all sexes. Some rare diseases are more prevalent in a few cultures where there has been less outside family mixing.
It might help you to visualize the third most populous country is the United States* – we’re also the 3rd largest geographically*. Or think of ½ of the people in Europe all in one country. That’s a lot of people … but since 1 in 10 people have a Rare Disease it makes perfect sense.
My name is Tarryn and my older sister Wanita was diagnosed with MLD in 2007. She was 16 and I was 14 when she passed away and passed in 2010 from juvenile MLD. I live in South Africa.
She was so loving and so caring. Wanita was a very friendly person who loved everybody she met. It was a very difficult time for me as she was my sister. I grew up with her and I loved her. From her being there all the time to her being gone in a matter of seconds it really took a lot out of me and even 5 years later I still battle to understand it and cope with it. It was a very emotional time for my family and I but one thing I’ll always cherish is the memories we got out of it and the laughs we shared together. Right to the very end she was a happy happy little girl. Even though she was in so much pain she always managed to give us a smile and a little giggle.
I use to find it very difficult to speak about her with other people and explain my feelings toward it. I always managed to break out into tears and be very sensitive about the subject, but as time went on I almost felt like I was just staying in that bad patch and bad place of feeling alone and constantly miserable. I knew if I carried on putting it in the back of my mind that things wouldn’t get better and that I wouldn’t be able to let go. I decided to start slowly and little by little I became ok with speaking about her and listening to stories that was remembered by my family. Although I must admit I still get choked up looking at pictures but I’ve realised that it’s ok it’s not that I’m staying in the past or I’m making myself sad it’s just my way of grieving and I take a bit longer than other people do.
I miss her everyday and I often wonder what life would be like with an older sister and think of all the things we should have done together. I never got to gossip or go shopping or go to the movies, tell secrets and all the things other sisters get to do with each other. But I now get to make sure that my other sisters get that kind of attention from me as an older sister to them I try to fill in the missing gaps that were left behind with me when Wanita left.
I still have my difficult days and days where all I do is sleep and cry and hold her teddy. But everyday I know it’s getting better and she’s in a better place in heaven where she’s watching down on me everyday and holding my hand as I take my journey alone in this big bad world.
I miss her with my whole heart but I don’t wish her back here as I know she’s in a better place and she’s happier than she’s ever been in her life