Ohio Sanfilippo Awareness Day

November 16th

Oops, we misspelled “Sanfilippo”…

On January 6, 2021 Governor Mike DeWine signed a bill declaring November 16th Ohio Sanfilippo Awareness Day. Our family created postcards to send out to friends of Oliver asking each one to just pass along the postcard to someone else to raise awareness of this terminal neurodegenerative rare disease.


Children are born with Sanfilippo Syndrome, but it is invisible until they start exhibiting developmental delays or regressions in their early years. It affects 1 in 70,000 children.

Oliver was 3 when Jen and Brian grew concerned about his behavior and reports from his preschool that he was falling behind. Jen checked out stacks of books about discipline and diet and signed up for parenting classes with Brian, convinced they were not good enough parents. Oliver qualified for physical and occupational therapy at school. He received speech therapy as well. Finally, they found out they were great parents. Oliver, however, was born with a single, yes a SINGLE gene defect in his DNA that causes his body to lack a necessary enzyme that breaks down heparan sulfate, a natural cellular waste. This build up of heparan sulfate gradually clogs his body and especially his brain with toxins that cause a cascade of detrimental effects and ultimately death in his early teens. And there is NO CURE! There is no FDA-approved treatment or cure. Clinical trials are happening and other treatment strategies are in pre-clinical research and require funding. (curesanfilippofoundation.org)


On July 5th our family had a “play date meet-up” at Wolfe Park in Bexley, Ohio with the founders of the Cure Sanfilippo Foundation, Glenn (Dad, Donor, and President) and Cara (Pediatrician and Assistant Professor) O’Neill. They are the parents of 11-year-old Eliza who was diagnosed in 2013 and her older brother, Beckham. Katie Walton (VP of Marketing for the Cure Sanfilippo Foundation) and her husband and 3 children attended as well. And 9-year-old, Reagan McGee with Sanfilippo and her parents Karin and Pete joined us as well.

I posted every photo I took because we celebrate every moment of these innocent children’s lives!


Sadly, Reagan McGee slipped away in her sleep 2 weeks later. Jen, Brian, and I attended her Visitation tearfully paying our respects to a beautiful little girl whose life was taken away by Sanfilippo Syndrome. And what do you say to her parents? I could only hug them tightly and cry. I made friends with two more Sanfilippo children while I was there. They were both several years older than Oliver. Austin was in a wheelchair, a beautiful boy who no longer could speak, but his eyes did all the talking. And there was Abigail, a feisty redhead… She had a feeding tube. Sanfilippo, you are so unkind and unfair! Damn you!


On August 14th we hosted our first Lemonade Stand to raise money for researching a cure for Sanfilippo Syndrome and we honored the life of Reagan snatched away all too soon by this cruel genetic fate.


Please help us share awareness for Sanfilippo Syndrome today!

Little Did We Know…

As we left Thousand Palms Oasis Preserve on June 8th, we planned on visiting family in Colorado, Texas, and Ohio and returning in September. We hadn’t planned on driving away forever.

Oh, but what a final journey we had! The refrigerator inverter was not working, so for 10 hours each day, the refrigerator was off until we could plug into electricity overnight. And one of the brackets for the rear end sway bar was broken, causing the RV to shake, rattle, and roll along the highway and byways. Then we discovered one of the tires on the tow dolly was losing air. We were lucky to arrive in Colorado safely and in one “peace” via New Mexico and Arizona roadside politics.

But arrive we did. On June 10th we made it to Jernigan Land.

We had a lot of RV repairs to take care of, however, so we canceled our plans to drive the rig to Texas and Ohio. (Did I mention that our built-in propane tank needed a new carburetor?) Staying put in the Colorado Desert in the Coachella Valley for 21 months really took a toll on our vehicle. We even needed to reupholster the captain chairs and couch as the synthetic leather was flaking off in the dry desert heat.

Unfortunately these are the only pictures I have from the many ones I took of our family and grandkids. (I will explain later.)


I decided to fly to Ohio on June 25th to visit my family in Columbus. My grandson Oliver has Sanfilippo Syndrome, a rare and fatal genetic disorder. But when I called my son, Brian, I realized the sooner I could visit the better… Jen was starting a new job at Forge Biologics, a gene therapy manufacturing and therapeutics development company working to “accelerate transformative medicines to reach those who need them the most”…like Oliver and his buddies with rare genetic diseases…) Brian was still working from home. Reagan was in full-time preschool. Oliver was home for the summer. Jen’s new insurance was in flux about covering the ABA aides who spent daily in-home time with Oliver. Since Oliver is neuro-atypical he requires constant supervision and stimulation to do his best each day. Well, you can fill in the blanks. I was needed. So, I flew to Ohio on June 19th. The night before, however, I lost my phone! Jeff and I tore apart the RV and car. The only other place it could be was at David’s. A precursory lookie-loo by Jeff and Patty turned up nothing, So, I bought a new phone and lost most of my pictures from Jernigan Land. (Later, my old phone showed up at David’s behind the couch!)

I purchased a one-way ticket to Columbus because Jeff was planning on driving out when our RV was scheduled to be in the shop for the reupholstering. We booked a nearby hotel for 10 days in the beginning of August and then we were supposed to drive back to Colorado together. In the meantime…


June jumped into July.

Oliver wants pancakes for lunch.
Grammy L delivers.
Yum…
Reagan’s condor…
…lays an egg. We wait…
…for the egg to hatch.

The 4th of July!

July 5th…

We met Glenn and Cara O’Neill, the founders of the Cure Sanfilippo Foundation and their older son Beckham and 11- year-old daughter Eliza diagnosed with Sanfilippo Syndrome. Another Columbus area family joined us. Their 9-year-old daughter, Reagan, also has Sanfilippo. And finally, Katie Walton, the Foundation’s VP of marketing was also there with her neuro-typical family.

This was the day I knew I had to trade in a home on wheels for an apartment in Columbus close to Oliver, Reagan, Brian, and Jen. I need to celebrate Oliver’s best everyday while he is still active and talking and laughing and playing… While he still calls me over to give Papa Jeff a hug… While he still runs up to me with an enormous smile and takes my hands and makes me clap… While he still jumps into my lap and looks at books with me.

And of course, Reagan too!!!

Whoosh! Clean Up in Aisle…

Heavy Winds

April 7th…

Main Picnic Grove…


Oh no, not again!… May 16th

Behind the RV and behind the Visitor Center cabin…

It took me over 3 hours but, with help from Jeff, it all got cleaned up!

Meanwhile, on the boardwalk… a palm tree in the main oasis falls over…

This task is beyond our skills…

Yet, the end of the day peacefully masks the destruction of the wind…


But wait, there’s more… Another whoosh! on May 20th…

Yep, behind the RV and Visitor Center again!

And finally, not a whoosh! but an invasive popping up of rabbits’ foot grass in the desert streams on the Coachella Valley Preserve…

I cut and pulled and bagged until the day we left the Preserve.


I’m a gonna miss these desert chores!

All About Oliver

A Sanfilippo Story by Grammy L…

A great birthday party with great friends!

Sunday April 4th, (yes it’s Easter Sunday) Oliver celebrated his birthday with his 3 special friends from school: Jack, Henry, and Zev…

…at Tree of Life Play & Cafe…

3708 Fishinger Blvd., next to Get Air trampoline park

And of course Reagan invited her special friend, Lily…


What a great place for a party! The slide and ball pit area let Oliver, Jack, and Henry bounce, climb, and run off steam. Zev really enjoyed the slide and was a good sport as the other 3 amigos kept corralling him. Oliver, who does not realize his own roughhousing, made sure to let Henry’s dad know, though, when Henry was out of control.


Zev’s mom was so touched that Zev was invited to Oliver’s birthday party. “This is the first birthday party he has ever been invited to!”



What a great birthday party! We even did a take 2 on singing happy birthday because Grammy L thought she was videoing the song, but, alas, oh, Grammy L wasn’t. Henry’s dad, Steve, (the same dad Oliver kept calling and finding and taking his hand to “tattle” on Henry), calmly said, “Let’s do it again.” So we did!


All About Oliver

A Sanfilippo Story by Grammy L…

HAPPY BIRTHDAY, DEAR OLIVER!

HAPPY BIRTHDAY TO YOU!

Oliver is 6 years old! He doesn’t quite grasp the fact that today is his birthday, we guess, since his party with friends won’t take place until Sunday, the 4th of April. We remember, a little sadly, how excited he was to wake up on his birthday and celebrate his special day in the past. “It’s Oliver’s birthday,” he would shout with a great big smile on his face. Today is different. Maybe on Sunday he will realize we are celebrating his birthday.

Later in the afternoon, Oliver attended the birthday party of Jacob, one of his friends from pre-school last year. It was held at a gym with sports areas. Jen said he had a wonderful time running around and throwing balls. The best part though was that Jacob and his friends played with Oliver. They chased him and joined him in the various areas as he flitted here and there the way he does. They INCLUDED and ACCEPTED him!

Sadly, this is not usually the case when Oliver is around kids his own age. They label him strange because he acts differently so they don’t engage with him and leave him all by himself. It’s not their fault. But maybe it’s time to start having conversations with neuro-typical children about all the Olivers of this world they have yet to meet. How can we explain that Oliver is doing his very best even if it looks different than their very best? As Oliver says, “hmmm… I KNOW!” isn’t this a lesson for us adults too? Hmmm… I KNOW I need to learn to practice this!

A Spring In My Step

Bexley, Ohio

(My next few posts will be out of order chronologically as I catch up with our last days at Thousand Palms Oasis Preserve and my first post pandemic visit to Oliver and Reagan Land.)

I finally bloom with joy just because I am able to travel to Ohio again safely after sequestering in California during the pandemic!

Faelan and I take a walk through Bexley in late March.



Scenes from the backyard…

…a cardinal, Ohio’s state bird, Jen’s new raised vegetable beds, and buds on the sweet gum tree…


And the sad tale of a robin with lock jaw…

The family wakes up on the last Saturday in March. Jen takes Faelan outside for his morning pee and she notices a robin with its beak open standing next to the steps… just standing there like a statue… frozen… motionless… for a long time… Jen calls the rest of the family over to witness this strange phenomenon, questioning whether robin red breast is alive or not, and wondering what to do. As the bird still hasn’t moved, Jen decides it is dead and proceeds to get a shovel and garbage bag to move it. Brian goes out to assist her. I’m inside with Oliver and Reagan, when all of a sudden we hear 2 loud screams! As Jen approaches the robin, the bird flutters its wings, ascends several feet into the air, and lands in the side of the yard.

Obviously, the bird is alive but its beak is still open. It tries to peck for insects in the grass and flower beds. Reagan is both concerned and a little scared as the robin hops around the back yard seeming to follow her.

I quickly search Google for an answer to why a robin cannot close its beak. I learn a stressed bird will have its mouth open and pant. But there’s no panting here. Did he or she fly into something that caused trauma to its beak? Possibly…

Oliver brings a plate of blue tortilla chips outside for a snack but abandons it. Reagan runs inside and brings out a bowl of water and we watch as the robin tries to desperately peck at the chips but his beak won’t close. The robin hobbles its way across the yard and eventually flies away.

Reagan and I hope the robin gets better and we dream that he does!

All About Oliver

A Sanfilippo Story by Grammy L…

CAPTAIN HUGS BAR

Oliver is the poster child for Larabars! He has been devouring several of them daily ever since he tried his first one at 18 months. Today he just asks for chocolate. His favorites are:


Sooo… the good people at The Superhero Project created and sent this framed Captain Hugs Bar to Oliver!

Along with several boxes of Larabars!


The next time you are at the store and run across a single bar or box of Larabars (or perhaps enjoy one yourself…), please think of Oliver and his Sanfilippo buddies and the children who haven’t been diagnosed yet.