Happy Mother’s Day! We couldn’t go throughout the day without sneaking on the blog to celebrate our very own Super Mom, who was just featured in So Scottsdale Magazine’s May 2024 issue that had a special section about “Moms Making a Difference”.
See it below or read it online here!
Happy Mother’s Day, Mom! We are so lucky to have you and love you so much!
Now that the U.S. has an FDA approved treatment for Metachromatic Leukodystrophy (MLD), you’d think they would automatically add it to the nationwide Newborn Screening recommendations for all states in order to immediately begin saving lives, right? Wrong.
Accomplishing this is also quite the process and one that requires the entire MLD community to share their stories, educate the committee who makes the decision as to what goes on the RUSP (Recommended Uniform Screening Panel) and make it completely obvious that doing so would save thousands of lives (especially now that there is an approved treatment which must be given before children become symptomatic in order for it to be effective).
So, who is this committee? It’s called the ACHDNC, or Advisory Committee on Heritable Disorders in Newborns and Children. According to their website, it is comprised of 10+ doctors whose specialties range from pathology, genetics and public health practice to laboratory services, pediatrics and molecular biology (to name a few). It is they who determine whether a disease gets added to the RUSP and therefore recommended to every state in the nation to be included in the foot prick blood spot test that every baby gets at their first visit to the pediatrician.
Only then will MLD be diagnosed in time for a child to receive the FDA approved treatment. Without it, babies with MLD will ultimately become symptomatic, and it will be too late. But they may be able to spare their future children now knowing it’s genetic. Just as we have with Livvy and Keira, families across the nation will be forced to lose one child in order to save another. Which is absolutely unacceptable when there is this life-saving treatment available in the U.S.
So, what do we as a community do? We speak up.
Last year, myself along with many other MLD families made public comments to the ACHDNC in support of adding MLD to the RUSP.
You can view my remarks (with Livvy by my side) below at the 1:33:52 mark.
Today, on Friday, May 10th, I’ll be speaking with the committee again. But this time, I’ll have Keira with me so they can see for themselves the power of this gene therapy treatment to not just transform but save lives.
To think this therapy has been approved since March 18, 2024…just imagine how many babies have been born since then whose parents have no idea their child could become symptomatic with MLD and by the time they find out it will be too late.
That is exactly what we are trying to prevent. Hopefully they hear us loud and clear.
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…
I can’t believe it’s been three+ years since Keira received this life-saving treatment. As we do annually, one of us heads back to Italy with her, along with Eva and one of our Moms (while the other stays home with Livvy), for her usual check up.
But this is not just your typical pediatrician visit. It’s 4-5 full days of various tests, blood draws, and evaluations to ensure everything internally is working as it should and that there are still no signs of MLD.
Here is what each day entailed:
Day 1
Day 2
Day 3
Day 4
Day 5
I am happy to report that all of her tests (so far) have come back great! The white matter in her brain that, as a baby, showed some inital signs of degeneration have actually now shown signs of regeneration in the MRI. There is no other word for it than miraculous.
And Keira handled it all very well, all things considered. When we spoke with her on WhatsApp one day, she nonchalantly said, “Oh ya, I just got a blood draw at the hospital.” Then continued on with the conversation about the playground they went to the other day.
We knew she was doing well, and is even advanced in some areas, but to have this confirmation from the doctors that everything internally is just as it appears externally, is a huge relief!
It is amazing to see her grow and develop in ways we never got to see with Livvy, and we can’t wait to see what the future holds for Keira.
Because all went so well, we now only have to go back every other year for check-ups. See you in 2025, Milano!
See a few photos from her time at Ospedale San Raffaele below:
As Livvy has continued to regress, we have noticed one thing has remained true – her love of music! After getting a facial recently at Nourish Face & Body, the owner Brooke used these chimes during my session that I instantly knew Livvy would love, called Koshi Chimes. We bought a set for her 5th birthday, and hearing them always makes her smile.
After sharing that with Brooke, she asked if Livvy would enjoy a sound bath (or sound healing session). It was something we had never even considered before – she usually just receives music therapy once a month through Hospice of the Valley – but jumped at the chance for her to have a new experience and got it scheduled.
So, what is sound healing? It’s a therapy that uses different sound waves to balance energy in the body and enhances relaxation that taps into your parasympathetic nervous system calming and resting the entire being.
And Livvy LOVED it! She was smiling and taking nice deep breaths through the entire session.
For a child who cannot move on her own or speak for herself and her body is going through SO much internally, we were thrilled to find something she could enjoy so much.
Brooke shared that sound healing improves energy, physical and emotional health and well-being, and can release stuck energy in the body.
Some other key benefits of sound healing include:
1. Reducing anxiety and depression
2. Enhancing immune function
3. Reducing stress and promoting relaxation
4. Reducing pain and inflammation
5. Improving focus, concentration, and clarity
6. Enhancing mood
Sound healing can benefit people of all ages and health statuses. From those who need relaxation and stress reduction to those with physical and psychological health challenges. It can be particularly helpful for those with chronic pain, anxiety, and depression.
For more information, or to find a spa that offers this in your area, a quick Google search should do the trick. But to see more about Nourish Face & Body, visit: www.nourishfaceandbody.com.
When Livvy was diagnosed with MLD in March of 2020, we were told the average life span is six years old. A year later, another little girl in Arizona who was diagnosed around the same time as Livvy passed away. We knew our moments were fleeting, time was precious and to treasure each day as if it were her last.
Fast forward to present day, and we just celebrated Livvy’s 5th birthday on May 21st. Surrounded by our family, we all sang Happy Birthday and I had to go into the kitchen afterward to wipe the tears away. What a miracle she has even made it to age 5.
In these past few years, she has accomplished so much for someone her age and with her diagnosis. And we hope to continue giving her a myriad of opportunities despite everything she has endured up to this point and may be going through in the future.
At year 5, here are some of Livvy’s favorite things:
– Listening to music and her music therapy sessions (the harp and chimes are her faves)
– Watching her sisters be silly
– Color: pink
– Watching the birds
– Going for walks
– Movies: Little Mermaid, Beauty & the Beast, Encanto, Luca
– Bubbles
– Odysea Aquarium (sharks, in particular)
– Car rides anywhere
– Funny noises
We’re so grateful to have her little spirit brightening our days and look forward to what the next year will hold for our girl. Happy Birthday, Livvy!
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.
I’m finally coming up for air from Easter weekend. And I’m still exhausted…mentally.
As with most holidays since receiving Livvy’s terminal diagnosis that stripped her of her abilities to walk, talk, and enjoy so many things in life, I dread them. Holidays are no longer what they used to be. They’re all now a glaring reminder of everything our daughter can no longer do.
While you would probably never know that by seeing me during the holidays because we keep things as absolutely normal as possible for the girls, I have to mentally prepare before each one.
How do we keep Livvy as involved with her sisters as possible? What “toys” do we get her now that she can’t even hold on to anything? What can we do to still give Keira and Eva the same opportunities as we normally would but not exclude Livvy? How can we have her help us decorate? Will the clothes we order be stretchy enough to go over her arms when she’s having trouble straightening them? What equipment and supplies should we bring if we have to go to a grandparents house? The questions go on and on.
It’s exhausting. And stressful. And sad.
But these are the things parents of children with MLD have to think about.
Not to mention the fact that with each passing holiday, we are one more holiday closer to her not being here. Which, as I write this, I suppose is a true statement for all of us but not a thought that is as omnipresent as it is for a parent of a terminally ill child.
Will this be her last Easter? Her last birthday? Her last Christmas? I think that thought on every holiday.
This Easter was particularly hard because Livvy was battling her 5th UTI in a row, spiked a fever and then had a seizure the morning we were going to take them all to meet their cousins at a nearby farm for an egg hunt with fair rides.
With an Easter excursion out of the plans for her, it was all about rest, relaxation, keeping her food and meds down and doing whatever we could to get a smile back on her face.
Thankfully, we got a new, additional medication prescribed (Augmentin), and it’s doing the trick to get her well. We are hoping it keeps these infections at bay (since Keflex did not) as we prepare for her 5th birthday next month. A very happy occasion, absolutely, but another event that will take its toll both mentally and emotionally.
To my fellow parents of terminally ill children: stay strong and don’t feel bad about taking a break after the holidays. I know I always need one, and Lord knows we ALL deserve it! ❤️
Wow. It has been a minute (or more like 6 months or so) since I’ve actually posted an update here. Life, travel, advocacy, parenting, work, holidays and everything in between has taken up our time and if there’s one thing I know: time with our girls over anything else is time not wasted.
Now that I have a few minutes, I wanted to share an update on Keira. She is officially 3 years old (as of January 9th) and you would never know she was diagnosed with the same disease as her sister, who is enrolled in Hospice. The difference between the two is night and day.
We are always looking at Keira in amazement over one thing or another. If it’s not her ability to run and climb, it’s how advanced she is in communication (she has since moved up a level in school because of it) or her love of make up or her opinions on our attire, or her skills at back seat driving. I wish I could share a video of her every single day because the world (and more particularly the FDA) needs to see what gene therapy for MLD (Metachromatic Leukodystrophy) can do. It’s truly been our miracle.
Just for fun…we asked her the following questions so you could get to know her right now:
1. If you won a million dollars, what would you buy?
A Barbie Lego!
2. How long does it take to get to Italy?
Far
3. What job would you like to do when you grow up?
Elsa
4. At what age do you become an adult?
16
5. If you could be a superhero, what superpower would you have?
I can use powers, and I can make ice.
6. What is your favorite animal?
Seahorse and horses.
7. If you could eat one thing for the rest of your life, what would it be?
Mac and cheeeeeeese!
8. What’s your favorite color?
Pink and Orange
9. What does love mean to you?
It means I love you!
10. What’s your favorite movie?
Elsa and Anna
11. Where did you go in Paris?
The Eiffel Tower!
While she is definitely a “three-nager” and quite sassy and independent, we always remind ourselves that even the hard days are miraculous days. Had she not received this treatment, she wouldn’t even be speaking at this point. So even a “No!” Or “I’m not going to!” response is internally met with a bit of joy on our part. We never got these moments with Livvy so we cherish it all; the good, bad and the sassy. 🥰
This month has been a whirlwind of travel – first to Atlanta to speak about Right to Try 2.0 at the State Policy Network’s 30th Annual Conference and then to London to speak about the gene therapy Keira received, how it has transformed her life and how we are helping other families like ours. Next? To Milan for Keira’s 2-Year post- gene therapy check up! Time flies!!
I was so honored to be included in these opportunities this month and I hope it only sheds a light on the legislation that needs to change to help families and patients like our daughters.
I was shocked – in a good way – to see Keira’s sweet face on every seat in the room when I walked in to speak. The face of hope for other patients striving to get that one treatment in the world that could change their life right here at home in the US, as opposed to having to raise money and uproot their lives for access to life-saving treatments.
I am so grateful for the Goldwater Institute who invited me to SPN’s 30th Annual conference to speak at their panel on “How Your State Can Unleash the Future of Medicine”. They are an amazing organization doing so much across the nation to make positive change. My time with them only inspired me to do more.
From Atlanta, I headed across the pond to London to speak to the staff of the genetics company who was instrumental in treating Keira.
Their 170+ staff rarely get to actually see the results of their hard work so I was amazed at the feedback I received sharing how well Keira is doing today and the work our family has done to help others.
They are true miracle workers and it was an unbelievable honor to meet them and share that it’s because of them we get to see miracles on a daily basis through Keira.
Next stop: Milan, Italy! 🇮🇹
The Riley's Road to Italy 