parenting

Congressional Briefing #2

While our trip to D.C. in May was both successful and hopeful in sharing our family’s story with lawmakers, truly moving the needle seemed to warrant another trip and another Congressional Briefing.

This past week, Keira and I returned to the Capital, where we were included in a panel discussion about our family’s experience and how newborn screening for MLD could change – and save – the lives of so many.

Included among the panel were the following:

It was a great discussion with perspectives from each of the panelists.

One glaring statistic I learned: the test for MLD newborn screening (to be added to the foot prick test after birth) only costs $5-8 per baby! Compared to the millions in costs for a single symptomatic child, like our daughter Livvy, who will need a variety of special needs equipment, 10+ medications/day, and numerous hospital and ER visits (to name a few things) before passing away at an average age of 6.

In attendance were other MLD families as well as members of a variety of House and Senate committees. The feedback seemed very positive.

Earlier that day, we also had an unexpected meeting with the White House Domestic Policy Council staff to similarly share our family’s story and the importance of adding MLD to newborn screening when there has been an FDA approved treatment for it for well over a year and a half.

It was also a positive meeting, and little did we know it may have actually made a difference.

A mere 48 hours later we were invited back.

I don’t know what this meeting entails, but we are VERY hopeful that it will include ensuring nationwide screening for MLD so that any child diagnosed will have access to the same FDA approved treatment that Keira received.

We will keep everyone updated!

In the meantime, here are a few photos from last week’s trip to D.C.

Livvy’s 6th Birthday Par-Tay

On May 21st, 2024, we hit a milestone we honestly didn’t expect: Livvy turned 6 years old! 

With the average lifespan of a child with late infantile MLD being 6 years of age, it’s a number that’s always in the back of your mind as a parent. But every MLD kiddo is different. Some pass a year after diagnosis, some live to age 12…doctors will never predict this timeline because the disease is so rare, and there’s no way of telling the medical journey each child will take.

Within the past 6 months, she’s declined so much. One day, her oxygen levels would be at 81% and her heart rate at 180…we think “this is it”. Yet the next day, she wakes up smiling. Throwing up one week, seizures the next. It has been a rollercoaster.

I, honestly, did not expect her to make it to her birthday. But I also knew we had to make it a big deal. So despite the “what ifs” rolling through my mind, the planning began.

For the theme…we knew since seeing Taylor Swift’s Eras Tour on Disney+ all three girls have become major Swifties (Taylor Swift is even on Livvy’s eye gaze device so she can request to watch the concert). So, naturally, we asked Livvy…do you want a Taylor Swift birthday?? And she got the BIGGEST smile on her face.

From the invite, outfits, and decor to the cake and party favors, everything was Swiftie themed, and approved by Livvy.

Here’s a glimpse of her special day, along with some links to things I bought, in case you’re planning a Swiftie party of your own!

The invite, and some of the things we bought, to make the day extra special:

Moms Making a Difference

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!

Why We Need Newborn Screening for MLD

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.

Keira’s 3-Year Post Gene Therapy Check Up

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

  • Basal Blood Sample + Urine Tests
  • EEG
  • General Clinical Evaluation
  • Audio/Visual Evaluation
  • Left Hand Wrist X-Ray to determine bone age
  • Cardiological Exam + Echocardiogram and Electrocardiogram

Day 2

  • Psychological Exam

Day 3

  • Abdomen + Thyroid Ultrasound
  • Neurological Motor Examination

Day 4

  • MRI
  • Bone Marrow Aspirate
  • Electromyography
  • Lumbar Puncture
  • Blood Draw

Day 5

  • Endocrinological Evaluation

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:

A Sound Bath for Livvy

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.

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.

Why Holidays are Exhausting (Now)

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! ❤️

Easter with our girls 🥰

3 Years of Keira

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.

Keira on the playground at school
Keira and Eva with Clifford, the big red dog.
Keira at school on Ground Hog’s Day
Climbing the geodome in our back yard (something Livvy could never do)
Keira and our new puppy, Penny Lane
Keira at gymnastics
Putting on makeup at her vanity.
Swinging with Livvy

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. 🥰

Advocacy in Atlanta and London

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! 🇮🇹