Do you know the feeling of never getting used to something? Think about it. But if you have to think about it, you don’t know.
Imagine having something that you assumed you would always have in your life, like your legs. No trivial thing. Then one day they’re gone, just gone and you’re supposed to get used to that. You wake up in the morning, roll over and hoist yourself out of bed to face the day. Only to face plant into the hardwood floor. Damn, no legs dumbass, you say to yourself for the ten-thousandth time.
We’re pushing ten years since Jonah’s diagnosis and I’m still not used to my families new normal, I still face plant once or twice a week.
Do you remember my last blog? The dad that I talked about in my previous blog is out of the closet now, his name is Mike. He lives in PA and decided one day to drive to NY to meet me in person and soak in as much Sanfilippo as he could. He ended up crashing with us at our house and office for three days. He sat in the office, reading and asking questions, throwing ideas at me left and right. He tried to wrap his brain around what was happening. Not wanting to feel powerless he wanted to fight Connor’s fate. But how? Mike asked.
Everything he asked I had asked when I was in his state of diagnosis. People respond in different ways, Mike responded a lot like me: this thing, it just takes over you. I could see that Mike wanted to find a way to make peace with it and have some sense of control. It was unnerving to watch him, to hear him, I know this state. I also know that you can never recover full control of your life. You do what you can to keep yourself from going crazy.
Mike and his family are now prepared to tell the world that their son has Sanfilippo Syndrome and they are hell bent on saving his life. Help him (us) here. https://www.classy.org/campaign/connor-beats-sanfilippo/c242983
Like Jonah, Connor just turned 11, like Jonah Connor has the same subtype of Sanfilippo. For fundraising efforts for Sanfilippo Syndrome type C, I encouraged Mike’s family to support the Cure Sanfilippo Foundation. Jonah’s Just Begun has folded as a 501c3. The Cure Sanfilippo Foundation is now representing JJB’s MPS IIIC fundraising efforts. Meanwhile, HANDS continues to work together and are partnering with CSF.
Last fall I thought I was actually taking some control of our future. Jeremy’s show had been cancelled; we decided that it would be good for our family if he took some time off. Phoenix Nest was finally able to afford an office; for the first time I was able to give myself a modest salary. For 3 short months I thought things were going to stabilize and I’d gain some control over our lives.
Then Sean quit and our grant was subsequently frozen. I stopped paying myself, instead Jeremy and I paid the salaries of our employee’s. I knew the NIH would eventually get around to signing off on our new milestones. But when? Jeremy and I felt as if we had absolutely no control. Biding our time and finances we waited. The funds were released last week, PN will pay rent and our employees on time this month and we can pay for cell banking! I’m relieved, but I’m not happy. I’m scarred and I’m scared. Once again, I was reminded of how fragile our lives are.
Wrapping up the previous blog. Jonah was accepted into a private school. Now this makes me happy. A new state of the art special needs school: 30 kids in all, no more than 8 students in a class, teacher, a teacher’s aide and para-professionals!
During the tour I tried not to get my hopes up. On the drive to the school I coached Jonah to introduce himself and shake hands with the principal. When we arrived, Jonah did just that and gave her his heart stopping smile. The tour began, the walls were lined with a stripe of textured tiles, giving the children something to touch as they walked down the hall. Encouraging children to go ahead and touch the walls!
Recess was on and we went out onto their roof deck play area. I saw him, another Sanfilippo child, he was running through the other kids. The children all cried his name and gave him high fives, his para playfully followed after him. The principal asked me what I thought. I blinked hard, trying to fight back the tears. I could hardly get the words out I wanted this school so bad. I said, “it’s perfect, but I won’t get my hopes up.”
The principal looked at me with a huge smile and said she had a spot for Jonah. She stated, “Jonah had me at Hello.”
The water broke from my clinched eyes.
You’re probably wondering about the other child with Sanfilippo… His parents aren’t active in the Sanfilippo community, I had only recently learned of him, my lawyer introduced us! Which makes me wonder, how many other Sanfilippo kids are out there living in NYC under my radar?
After Jonah’s school interview, we drove to JFK. I had a meeting scheduled with Alexey at his lab in Montreal. Alexey had updates on our research that he wanted to share. I took a video of our postdocs working in Alexey’s lab. I want all of you too see, that this is for real. Each one of these individuals are working on treatments for Sanfilippo Syndrome. Alexey’s lab is actively pursuing 4 different programs. All of these projects were initiated by the HANDS consortium and will continue to flourish with HANDS, The Cure Sanfilippo Foundation and others.
Notice in the picture, the dedication to Elisa Linton painted above us. The Sanfilippo Children’s Foundation commonly called “A Life for Elisa”, this foundation was founded in Canada by the Linton family. Sadly, Elisa has passed, her legacy lives on in many ways. One of which was an endowment to the Sainte Justines Children’s Research Center, to Alexey’s lab, many of these pos-docs are there because of the Linton’s endowment.
Sunday morning, I woke up to the news that Sophie Hamza, also 11, died suddenly in her sleep. The Hamza family are from Canada as well and have partnered with the Linton’s Foundation for fundraising efforts. Please take a moment of silence for Sophie and her family.
Our children mean the world to us. Many of us have sacrificed careers, time with our families, and endured unimaginable heartache. I hope that my readers take in the emotion here. Understand how committed we are to saving our children’s lives. Most of us with a child that is still alive today know that our child, like Sophie and Elisa might not live to see a treatment come to fruition. Yet we still continue to fight for the next generation of Sanfilippo children.
Jonah and Connor both celebrated their 11th Birthdays, our families will continue to fight for the rest of our lives. Thank you for helping us.
I'm actually looking at Jonah's growing cells!
Jonah's doctor took a biopsy and sent to Canada
