Saving Liv

Liv’s 2024-2025 school picture: 4K

Liv attends Monday - Friday mornings, and rides the bus to and from school. We have gotten reports that she enjoys music time with dancing, singing and shakers. She has struggled with wanting to settle down and sit for carpet time. She seems very happy to be back in school.

I have cut back my hours at work to just one day per week, so I’ve been able to put her on the bus and get her off. I’ve highly enjoyed the slower mornings, spending more time with kids before school, as well as having some time to myself to cook, exercise and relax.

We have noted less words from Liv, and she has basically lost the ability to answer any question. She can still communicate verbally that she wants to watch Dora, eat a bar or banana, read a book, get picked up, go downstairs, or get her pacifier. She also loves FaceTiming with grandma and papa Kohl and Stoop, Aunt Traci, Uncle Darren, cousin Sunny, Aunt Sarah and Uncle Jeff. She remains very hyper, happy, emotional and loving. I also feel like she and Liam have started to get along a little bit, and we seem to intervene a little less when they “play” together now. We are hopeful for a successful school year and limited sickness 🙏🏻😊

For those that believe in the power of prayer, we are asking you say a prayer for Liv’s Sanfilippo sister Sawyer. Sawyer is currently intubated due to a laryngospasm and they’re having trouble extubating her. Nothing about this diagnosis is easy, sending all our love to her mom Brittany Lagarde, dad Sam, and brother Zion.

Sale2Save total! We are really proud to say we raised $4,001 for the Cure Sanfilippo Foundation!
$1557 at our garage sale/cookie/lemonade stand this weekend.
$1444 from our Facebook/Instagram online fundraiser.
$1,000 match from a very special donation from the Means family, their daughter Abigail recently passed away, and is now free from Sanfilippo 🪽We are so appreciative of this donation, and send them a big hug.

There have been positive changes in the clinical trial world related to accelerated approval, showing more promise for a treatment option in the near future. This is very encouraging for us, as we know Liv is helping make history.

Thank you to everyone who supported us in person and online these past two weeks! We appreciate it all 💜

We had a GREAT first day of our Sale to Save, despite the persistent rain! We raised over $700, and are less than $300 away from getting that full $1k match!

Thank you to everyone who stopped by.

We will be here again 9-3 on Sunday, bring your kids, grab a drink and some cookies! Kelly Dr, Muskego. The weather tomorrow looks much nicer ☀️

PROGRESS 👏🏻👏🏻👏🏻💜💜💜
Moving forward in the clinical trial and FDA drug approval process. This is so encouraging.

📢MILESTONE BREAKING NEWS …
Ultragenyx Pharmaceutical Inc. announced just minutes ago that it held a successful meeting with the U.S. Food and Drug Administration (FDA), during which they reached agreement that cerebral spinal fluid (CSF) heparan sulfate (HS) is a REASONABLE SURROGATE ENDPOINT that could support submission of a biologics license application (BLA) seeking accelerated approval for UX111 (ABO-102) AAV gene therapy for the treatment of Sanfilippo syndrome (MPS IIIA). The company will need to finalize details of its BLA with the FDA in a pre-BLA meeting. Ultragenyx intends to file a BLA in late 2024 or early 2025 announced just minutes ago that it held a successful meeting with the U.S. Food and Drug Administration (FDA), during which they reached agreement that cerebral spinal fluid (CSF) heparan sulfate (HS) is a REASONABLE SURROGATE ENDPOINT that could support submission of a biologics license application (BLA) seeking accelerated approval for UX111 (ABO-102) AAV gene therapy for the treatment of Sanfilippo syndrome (MPS IIIA). The company will need to finalize details of its BLA with the FDA in a pre-BLA meeting. Ultragenyx intends to file a BLA in late 2024 or early 2025.

This is a massive “interim win” for the entire Sanfilippo Syndrome community (and by extension more broadly for patients with neurodegenerative forms of MPS). Establishing cerebral spinal fluid heparan sulfate as a reasonable surrogate endpoint will have a significant impact on the development of therapies aiming to treat the underlying enzyme deficiency of Sanfilippo.

This major milestone in FDA decision-making comes on the heels of the February 2024 workshop hosted by the Reagan Udall Foundation regarding “Developing Biomarkers to Support Accelerated Approval in Rare Diseases.” Cure Sanfilippo Foundation were among the organizations and industry experts urging the FDA to recognize the scientific relevance and utility of cerebrospinal fluid heparan sulfate, as a primary biomarker to support accelerated approval in the neuronopathic MPS disorders.

This is one of the major barriers we have all been working so hard together to overcome. Thanks to the many families, partners, and supporters who we walk forward with. We hope this is the beginning of heralding change in the way ultra rare disease treatments are developed for children in such great need.

Cure Sanfilippo Foundation's donors provided a significant early investment in the development of this treatment through the initial sponsor Abeona Therapeutics and academic study site in the US, along with many other co-funding organizations in the community. While drug development never moves as fast as this disease necessitates, we must recognize the important progress that has been made over the past decade. Our thanks go out to Ultragenyx for picking up the program and continuing to push forward. With hope!

Read Ultragenyx complete press release for more information. Link in comments.

Today Liv and I stopped at Vintage Grounds Coffeehouse in Muskego. For the past year+ they have been taking donations for Saving Liv 💜 We are so grateful for all they’ve done for us. They are always supporting local families and businesses. They are now taking donations for Pam, who has Stage 4 Pancreatic Cancer. It came on quickly. Her daughter works at VG and just graduated high school. All donations go directly to the family. Please consider stopping by to support this amazing local business 💜

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Olivia Update:

- Liv had an extremely hard week last week, with an illness that really took a lot out of her. She had 102+ temps for 5 days, wasn’t eating much of anything, and was very tired and emotional. She turned the corner earlier this week and we have been loving seeing more smiles and hearing more words.

- March is our diagnosis month, it will be 2 years on 3/28/24. This time of year brings up a lot of emotions as we remember the weeks leading up to that fateful call. Fundraising and raising awareness has given us an avenue to fight for Liv while we await a possible clinical trial.

-There is a lot going on behind the scenes in the clinical trial world right now with the FDA. Our biggest frustration lies in the difficulty for drug companies to get FDA approval due to the FDA’s high standards, despite previous trials which have shown significant positive benefits. Due to previous FDA denials, it discourages additional companies to want to take on the clinical trial process. The Cure Sanfilippo Foundation, parents, advocates and other Sanfilippo organizations are working hard to work with the FDA to make changes and we pray that will trickle down to a trial for Liv.

- Liv will have a brain and spine MRI at the end of April. She has some unusual reflexes (likely related to brain damage due to Sanfilippo), but in case they’re caused by unusual fluid swelling in her brain, her neurologist wants to take a look.

-Liv still attends St Paul’s Daycare two days per week, which will end in May. That will be a very tearful day for us, as St Paul’s has been with us since she was 12 weeks old. They have supported us in many ways, and have been wonderful to Liv. Liv has some behavioral issues, and we know a lot of Sanfilippo families that have been asked to leave their daycare settings because of that. Each time a behavioral issue came up, they offered assistance, support, and navigated a way to make things work. We love them so much, and we will have a tough time closing that chapter of Liv’s life.

- Overall Liv is a pretty happy girl, very hyper, with a minimal attention span. She still loves Dora the Explorer, Daniel Tiger and Cocomelon. She loves Liam, despite being a bit too physical with him sometimes. She loves her cousin Sunny, Aunt Traci, Uncle Darren, Aunt Sarah, Uncle Jeff, grandma and papa (x2), her daycare girlfriends, and mama and dad ❤️

-As always, thank you for your continued support of Olivia and our family 💜

Jordan Love went out of his way to send Liv a personally signed football! Olivia has a rare fatal genetic disorder called Sanfilippo Syndrome. She will lose all skills she has gained in her far too short life. There is currently no cure or treatment, but we are fighting hard to change that.

We are huge Packers fans, so this gift brought tears to our eyes. We continue to be humbled by compassionate, generous people. Can you all share this post, with hopes of it making it back to Jordan, the Packers, and the NFL. Thank you Jordan, and Go Pack Go! 🏈💚💛

We are so excited to announce that Denali Therapeutics has announced it is screening participants for a phase 1/2 enzyme replacement trial for Sanfilippo Syndrome Type A. Sites included are UNC (North Carolina) and UCSF (San Francisco) at this time.

Unfortunately Liv does not qualify for this trial, as she has Type B, but we are BEYOND excited about this opportunity for Liv’s friends and the advancement in research this shows. We are hopeful to see an enzyme replacement or gene therapy trial for type B soon.

In the meantime, we are praying for all the families applying, as we know there is limited space, and not every child that applies will get in. These drugs are very costly to make, which is one of many reasons why they limit the amount of kids able to be enrolled. They also want kids to be as cognitively strong as possible, with lesser disease advancement, so the drug can show more benefit. That being said, this application process can be really emotionally challenging for families, as they are fighting for a spot for their child. We will continue to pray for all our Type A families.

We hope that we get an opportunity to “fight” for a spot for Liv soon 💜

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Drum roll, please ... Thanks to YOU, the Giving Tuesday total is ... $324,753 raised!

When families engage their communities and personal networks around the country and world, the response is absolutely incredible. So much generosity and kindness.

We are humbled and inspired, energized and thankful. Thankful for your help in fighting for children with Sanfilippo. Once again, you've answered the call. You bring HOPE to so many families and children. Thank you!

The Giving Tuesday total includes all social media donations, Foundation website donations, a few checks, a stock donation, and others. Every dollar of the $100,000 match was captured and is included in these numbers. A second, family-foundation match also added another $25,000 match, which was also reached.

This weekend Olivia got to spend time with my Uncle Jeff, who shared that he and his community at The Mad Apple Burger & Billiard Co. in Appleton raised $1,300 for the Cure Sanfilippo Foundation. Sanfilippo Syndrome is a genetic neurodegenerative terminal disease, with no current treatment or cure, with life expectancy of mid to late teens. This donation is going directly to research to help try and save the life of Olivia, and her friends who have been given this awful diagnosis.
A special thanks to owner Kendal Koch and his staff who donated and helped raise the funds for donation. This is an extremely special and heartfelt donation, and we are so grateful.
Beautiful communities like this make sure we know we aren’t fighting this fight alone. We love you Liv! 💜

Clinical Trial Update & Fundraiser Update:

We have officially raised over $400,000 since launching Saving Liv last December. $15k from the golf outing put us over the $400k mark!! Tears are flowing as I type this because my heart bursts with love for this girl. Because of this money raised, you are giving her and other kids, a shot at a longer life. More quality time spent with their families. Better night’s sleep. More time mobile and able to keep up with their siblings.

We have exciting news about some upcoming clinical trials.

There are three upcoming clinical trials for Sanfilippo type B (Liv’s type of Sanfilippo) which are hopeful to get underway in late 2024, two enzyme replacement therapies and one gene therapy. One enzyme replacement option would be a weekly infusion into a reservoir implanted into Liv’s head, the other would be a weekly peripheral infusion via an IV line in her arm. The gene therapy trial would be a single infusion of a viral vector with the missing gene directly into the cerebrospinal fluid. They are in California, Germany, and Pennsylvania respectively (with potential alternative sites).

With no currently available clinical trials for type B (or any other subtype), we understand that the number of kids who apply will be higher than amount of space within each trial. Liv getting into one of these trials is not a given. We also know the younger and healthier the child is, the better their odds of being selected for a clinical trial. We hope to keep Liv as cognitively sharp as we can.

We understand that at any time these trials can be terminated or delayed. We are guarding our hearts a bit.

The money that was, and continues to be raised for Saving Liv, continues to go directly into the research to advance more therapies into clinical trials, so that more opportunities become available for treatment faster, which has led to these clinical trials. We couldn’t be more grateful for your support. We are not only fighting for Liv’s life, we are honoring those kids who have lost their battle with Sanfillipo, we are fighting for every child living with this disease, and giving hope to every family that gets this diagnosis in the future.

If you’ve donated, watched, or shared her story, then you’ve helped bring this opportunity closer, and we are forever grateful.

Asking for all the good vibes as we enter 2024 🙏🏻💜

We wanted to give a BIG shout out to Vintage Grounds Coffeehouse in Muskego for supporting Liv and our family following her diagnosis. Erin Zielinski went out of her way to help us right after she heard our story in December, and they’ve had a donation box up ever since. We are forever grateful. The last three photos are a throwback to March 29, 2022 when I took Liv to Vintage Grounds one day after her diagnosis. I needed to get out of the house and I knew that was a safe space to be, to allow Liv to play with toys, and where I could cry. I’m not sure even Erin knew that. This community has made us feel welcome. Thank you 💜

Liv’s golf outing was AMAZING! Porcaro Family Foundation, Barb Porcaro and Anthony J Porcaro put SO much work into this day, and we appreciated every second of it! Liv did great, she LOVED the golf carts, running around and making new friends. We got to spend time with 3 past year recipient families, Edison and his family, Everly and her family and Krissy ❤️ We continue to be humbled by the generosity and kindness of others, even complete strangers. Liv’s diagnosis is tragic, but it has allowed us to see SO MUCH good in this world. We are so honored to be part of this family forever. Thank you to all who had a part in this truly special day.

Liv’s Charity golf outing is one week away! It is sold out for golfers, but there is an online silent auction and ways to simply donate online too. 50% of the proceeds go to Cure Sanfilippo Foundation and 50% go directly into an account to help pay for Liv’s medical expenses not covered by insurance. Porcaro Family Charities has been such a blessing to our lives, we are honored to be a forever part of their family. Each year they choose a person or family in need, please click the link below to read Livs story, and see the stories of previous recipients.

Olivia Update:

- We have noticed an increase in hyperactivity and reduced attention span in Olivia. Speech and physical therapy have become more challenging to gain Liv’s attention long enough to complete a task. It’s disheartening but not unexpected. She doesn’t follow direction well at all, so everybody who works with Liv has gotten more creative with finding ways to meet her needs.
- She is tolerating Prozac (fluoxetine) well, she is on 8mg per day. We have noticed she sleeps better. We recently had several episodes of overnight awakenings and leaving her room in the middle of the night while on vacation, but we are hopeful that was just due to her change in environment. We have a lock on her bedroom door at home for her safety.
- There are no gene therapy or enzyme replacement trials on the near horizon that Liv would be eligible for, which is very frustrating. We revisited the idea of pursuing the trial at Duke that is a stem cell transplant, but elected not to due to the risk of death (multi organ failure and overwhelming infections). Four of the seven kids treated with Type B passed away.

Taking care of Olivia is an emotional rollercoaster. She is loud, loving, hyper, emotional, clumsy, feisty, flighty, adorable, and the best thing that has ever happened to me. It’s a constant battle of getting through the day, but also making memories and attempting to appreciate where we are right now with Liv. We recently spent time with other Sanfilippo families and were reminded how quickly this disease takes over. The fact that Liv still walks, uses some words, is generally happy, smiles, eats by mouth, doesn’t have seizures, and sleeps through the night most nights is something we are so acutely aware of, and do not take for granted. We have started to see her fall significantly behind her peers, struggle with basic tasks, regress with speech, and require constant supervision. We know what lies ahead and we continue to try to give her the best life possible.

We ask for your continued prayers for a cure.

We are looking to hire someone to help watch Liv this fall on Thursdays from 11:40-4:40. Starting Thursday August 31st. We are hoping this person could help get her off the bus at our house in Muskego, feed her lunch, put her down for a nap, and stay with her until I get home from work. She loves walks to the park, playing outside, and watching Dora the Explorer. She is pretty high energy so we are looking for someone up for the challenge, that would devote their full attention to Liv. We do have a friendly yellow lab dog. Tyler works from home aside from occasional travel, so most weeks he would be home working during those hours.

We will also need help next summer full time, Tuesday-Thursday or Friday, so there is potential for increased summer hours if desired.

Please share with anyone you think might be interested in spending time with this amazing kiddo 💜

I just had an amazing lunch at Meadowbrook Country Club with some really special people. Meadowbrook will host the Porcaro Family Foundation charity golf outing on Sunday August 27th, honoring Liv. Anthony J Porcaro and his wife Barb have welcomed us into their family. Bekah Garcia (son Edison) and Natassia Garcia (daughter Everly) were previous years’ recipients. We are so honored 💜

The golf outing is sold out for foursomes, but you can still donate items for the silent auction. [email protected] ⛳️

Sanfilippo Syndrome is an autosomal recessive genetic disorder, meaning that Tyler and I were both unknowingly carriers. We each have one faulty gene that we got from one of our two parents. Each child we have has a 25% chance of inheriting both Tyler and I's faulty gene, and having Sanfilippo Syndrome. Each child we have has a 50% chance of being a carrier (like us). And each child we have has a 25% chance of not being affected at all.

When we got Olivia's diagnosis, I was 35 weeks pregnant with Liam. When Liam was just over 3 weeks old, we got his results that he is a carrier. This means he will not have any symptoms, but he will want to test his partner if he chooses to have children. It's estimated that 1 in 263 people are carriers for Sanfilippo Type B.

The overall incidence of Sanfilippo Syndrome (all 4 types) is 1 in 70,000. The overall incidence of Sanfilippo Type B is estimated around 1 in 210,000.

Olivia update!

Liv got her new glasses this week! Liv is near sighted (has trouble with seeing long distance), an astigmatism, and a wandering eye (that gets worse when she looks at things far away, when her eyes are having difficulty). So these glasses will help with all three things! As long as she keeps them on…. 😂

Since her adenoid removal in May, we have noticed a considerable improvement in her runny nose, congestion, and breathing. She has completely stopped snoring 🙌🏻🙌🏻🙌🏻

She will be starting a new medication, fluoxetine (Prozac) soon. In adults and adolescents, it’s typically used for mood. Several Sanfilippo kids have started it an have found improvements in sleep, language and behavior. In theory it may help reduce inflammation and lower heparan sulfate levels. It is not a cure, but it’s something. We are tracking her sleep before and after starting it, as well as measuring the time she is able to focus on a specific task.

She is happy a lot of the time, and gives us big hugs everyday. She sings a lot, and loves playing with her friends at daycare, taking walks to the park, and having books read to her. We are blessed beyond measure that God chose us to be her parents.

Another angel, gone far too soon at age 12. She had Type B, just like Liv.

My mind immediately does the math. That’s 8.5 years from now for Liv. Liam would be just 9 years old. 💔

Stop sweating the small stuff. Hug your kids hard.

It is with a heavy heart that we inform you Miriam passed away suddenly in her sleep this weekend. Her family knew this day was coming, but wished she had more time. There will be visitation on Thursday, June 15th from 9am - 1pm at Dougherty Funeral Home, 2200 Trenton Rd, Levittown, PA 19056. We will be sharing the obituary soon. Please know that in lieu of flowers we would prefer donations be made in her name to the National MPS Society, Team Sanfilippo TSF INC, and/or her school Woods Services.

Middleton Ford has SO graciously offered to DOUBLE the $865 in donations from Friday’s event for 💜 That brings our total to $1730!

They have been beyond supportive since Olivia’s diagnosis & this isn’t their first donation ❤️ We are so grateful.

We are looking for 1-2 more volunteers to help watch the bounce houses tomorrow night during Jammin’ on Janesville, at The Lodge.

If you didn’t see, they will have 4 bounce houses/obstacle courses. They aren’t charging this year to them, but are asking for donations to Saving Liv. How amazing is that?

We have a few volunteers but I’d love to give them some breaks. You pick the time!

Planning to be there?? We will be there 5-9. We would love to see you 💜