FDA Approves Gene Therapy Treatment for MLD

It’s been a while since I’ve posted to the blog, but not for lack of updates…lack of time.

While much has happened since my last post in November 2023 (Keira turned 4, I continued advocacy efforts for Right to Try 2.0, which you can read in the Wall Street Journal, USA Today and The Epoch Times and all three girls immediately became Swiftiies after seeing the Eras Tour on TV). But one of the most important updates is that the FDA approved the gene therapy treatment Keira received in Italy (called Libmeldy in Europe and Lenmeldy in the US)!

If you haven’t yet read the details of the FDA approval, you can find it here.

We have been overwhelmed with emotion, thinking of all the families who will be spared from losing a child to this disease now that this treatment is approved. A huge round of applause goes to all of the doctors, nurses, advocates, gene therapy families, and many more who have had a role to play in this process. It has been years in the making!

Since the approval, I have also had the honor of sharing the girls’ story with CNN and NewsNation, which you can watch here:

It’s always bittersweet to share the girls’ story with the world, but I know it’s an important one that is helping to create massize change for other families like ours.

Thank you to all of you have been along with us on this journey!

Next step: getting MLD added to nationwide Newborn Screening so that all babies are tested in time to actually get the FDA approved treatment! More on that soon…

What a Miracle Looks Like

I recently took these photos of Keira when she was playing on Livvy’s Make-a-Wish swing set, and I can’t stop thinking about them. I’m sure to a “normal” parent, this would look like everyday life. But to me, seeing Keira’s face in both pictures…it just exudes hope, joy, happiness, and gratefulness. Her standing there, so strong…it’s what a miracle looks like (to us anyway). It is something her sister Livvy was never able to do. And the fact that Keira can, will forever blow me away.

I’m sharing these photos here not for just our own memory, but to also give hope to any other family whose newborn receives this diagnosis; to show the advances in modern medicine; to show what’s possible when the government and insurance companies get out of their own red tape and grow a heart; to show what is possible if EVERY child is screened at birth for this disease. Thousands of lives would be saved annually. And so many families would be spared of the devastation, grief, and heartbreak that comes with losing a child. Instead, they would get moments like these.

PFDD for MLD on Oct 21st

These letters may not mean much to you but they mean SO much to the MLD community of patients and their loved ones. Because on October 21st, a select group of individuals in that community (including yours truly), get to share their stories in a PFDD, meaning Patient Focused Drug-Development meeting, with the FDA, researchers, clinicians, and other stakeholders. Yes…I said the FDA!

I am blown away that we get to shine a light on this horrible disease and share that there is actually a treatment option out there that can save non-symptomatic patients with this disease, like Keira.

And YOU can be a part of it! Both the speakers, as well as their family and friends, can log on to this Zoom discussion to share what you see first-hand regarding this disease and how a treatment like the gene therapy Keira received could be beneficial (which, by beneficial, I mean the absolute best option on Earth).

Myself and other panelists meeting on Zoom to practice our presentations for the Oct 21st PFDD.

Here is the link to register and join us on Zoom on October 21st: www.mldpfdd.org.

This PFDD means quite a few – very important – things:

1. Our community has raised enough awareness about this terrible disease to get in front of the FDA, researchers and other key stakeholders and share its affect on patients and caregivers and the only treatment options that exist.

2. This could raise awareness for the need for the Newborn Screening panel to include MLD. Because the gene therapy Keira received has come to the US (and is already approved in the EU), we have a way to treat newborns diagnosed with MLD. And unless it’s treated fast, they will end up with a fate like Livvy’s.

3. Once they see the odds this community is up against and the options available, they may be more open to approving treatments for life-ending disease. No child should die by age 6 when they have the chance to live a full life if they were diagnosed at birth.

As part of the panels presenting, I will am getting to share our family’s story in relation to current and future treatments for MLD. Including, the two treatment options we used for the girls (Livvy’s clinical trial and Keira’s gene therapy), any complications that resulted (like Livvy’s internal port in the clinical trial), how we manage Livvy’s symptoms, how Keira is symptom-free nd how willing we are to do anything to give our children the chance at a better life.

Here is the link again to stay up to date and join us online October 21st: www.mldpfdd.org. By registering you will also have access to the September 12th community webinar.

If you or a family member have been affected by this disease I highly urge you to join me – attendees can share their insights too!

UPDATE: to see the full MLD PFDD, including my testimony, it is now online here: www.mldpfdd.org.