Long time no write.
When you get the alert in your inbox that I have posted a blog do you think to yourself: Oh boy which one of her friends lost their child? Or what is she fundraising for now? It's the truth and it's one of the reasons I don't write very often. That and I just can't find the time.
I'm going to rip the band aid off. It was Pol that died. He died on April 5th after a long stint at the hospital fighting off one bout of pneumonia after another until his lungs were too weak to keep going. Pol had just turned 18. His mother Belen worked incredibly hard to raise funds to help fight our children’s fate. Belen is one of the founders of HANDS, PN and Sanfilippo Barcelona. Belen is like family to me; Pol and Jonah could be brothers. They’re so much alike, both devilishly handsome, infectious smiles and gregarious personalities. Momma’s boys to the end.
Belen found me right after Pol was diagnosed, she came to New York and attended JJB’s IIIC investigator meeting at Columbia. The meeting where we kicked off our gene therapy research program. She raised over a hundred thousand dollars for our research, by teaming up with football superstar Andrés Iniesta. Remember when Jonah and I dropped everything and took a redeye to Spain to meet Belen at a press conference with Andrés? It was for the launch of a fan book about his team Heroés Del Deporte with proceeds dedicated to Sanfilippo Barcelona. Jonah and I walked into the pressroom, not knowing what was behind the door. Belen yelled our names, and the crowd of photographers and news reporters turned their cameras on us. I had never seen anything like it. Wall to wall reporters. The next morning Jonah and I went to the airport the news stands at the airport were filled with papers highlighting the press conference. I picked up one of the many papers with Andrés, Jonah, and I on the front page and gasped. Our 15 minutes of fame. The press conference was a few months after Andrés scored the winning goal for Spain during the 2010 World Cup. What a trip!
We were all so full of hope back then. Belen never lost hope, it was with her until Pol’s dying breath. I see Jonah’s life in a different light now. 13 years into it and we have lost so many kids, kids that I met when Jonah was just a toddler. Pol and Elouan made me realize that Jonah had a lot of good years in front of him. Both boys were 4 years older than Jonah, seeing how well these boys were at 7 gave me so much hope for my boy. They put my mind at ease, they gave me the courage to fight Jonah’s fate, they led me to believe that Jonah had time.
I’m very thankful that I was given so much hope when Jonah was diagnosed. Our researchers said if everything goes smoothly, we could have a treatment in 2 years. I needed to hear that, if I hadn’t, we wouldn’t be where we are today.
In 30 days, I will be turning 50. Jeremy, Jonah and I are going to France, we’ll walk around Paris for a few days and then take a long road trip to the South of France. Sanfilippo Sud is having a fundraiser in Montauban on June 10th which is my actual Birthday. https://www.facebook.com/donate/573221684916077/6244753015616517/
Afterwards Guilhain and Francine are putting us up for a few days, where I plan to sit in their lovely pool surrounded by good friends, family, and beautiful scenery. G&F live out in the country there isn’t another house in site. No cars, no construction, no hot summer city stench. My brain needs silence.
PN is working with Sanfilippo Sud and VML on a IIIC Natural History Study
which is supposed to launch sometime relatively soon at Hospices Civils de Lyon.
I’m getting super annoyed with how long the organizing and implementation of
all the moving parts is taking. It’s a massive amount of work and going into
another country adds another layer of applications and submissions. Meanwhile
we’re hemorrhaging funds on trial management fees. Last May I went to France to
meet with the funding organizations Sanfilippo Sud and VML to discuss the
study. I also got to meet with the primary investigator of our NHS, Dr.
Nathalie Guffon. That trip is in a previous blog.
Our IIID NHS launched in February, three patients have been seen and I just got word that 2 of our international patients plan on coming in June! I’m dang proud of the study. Getting the first patient through in February was exhilarating! It still feels a bit surreal. It will be years before all the data is compiled and analyzed, so I'm trying not to dwell on the timeline. I have plenty of projects to keep me busy while we wait.
Allegedly we’re submitting the IIIC NHS protocol to the French ethics committee in a couple of weeks. We were shooting for May 15th, now they’re telling me that they must run our core informed consent forms back through review. The excuse being standard operation procedures call for it, the process could take another 2 weeks. I just can’t stand all the paper pushing. I’ll be 50 before this study gets started!
It pains me to say that our gene therapy program had yet another setback. We didn’t see a substantial behavioral change in our mouse study. We stepped back and took a hard look at the entire study design and the vector. We discovered that the assay used to measure the potency of the vector failed. Subsequently our animals were not dosed with a high enough concentration of drug. It’s been all hands on deck sorting out the issue and regrouping. Last month Alexey (Montreal) shipped several pairs of breeders (Hgsnat KO mice) to Steve Gray in TX. Steve is busy breeding another colony for dosing, I think the mice are capable of doing the dirty work themselves. A new highly concentrated batch of vector is being sent to TX from Spain today. Mice will start being dosed in 2 weeks, knock on wood, knowing our luck the vector will fall off a truck or they’ll forget the dry ice. I’m not going to sugar coat this, the timelines for getting into the clinic have been pushed out another two years. As hard as I try to keep a level head, I completely lost my cool when I found out what happened. I screamed fuck until I went hoarse, since then the women in the office next door hasn't made eye contact with me. I’m over it now, we know what the issue is, and it’s been addressed. The past is completely out of my control, and I need to let it go.
I have a new house/office plant hobby. For the most part when I feel helpless or ready to
explode, I tend to my plants. Sometimes, I go downstairs to
the little plant shop in my building and buy myself a new plant. I let it sit
on the boardroom table, looking at it.
Repotting it and finding a home for it in my office is how I reward
myself for addressing my latest work problem. 'Sometimes' define sometimes, the definition of sometimes has come up while creating our new Sanfilippo questionnaire. What does sometimes mean to you? Is buying a plant once a week sometimes? To me it is. 'All the time' would be buying a plant everyday. Anyhow to each his own, we left out the option to choose sometimes as an answer in the questionnaire.
Our research is forever in need of funding you can donate to my Birthday fundraiser by clicking the link. Need I remind you it's also Mothers Day on Sunday?! MPS awareness day is on the 15th, which also marks the 13th year anniversary of Jonah's diagnosis.
By the way, Jonah is doing absolutely fantastic! This is him, holding court at the playground, reading a book to the younger kids.
In loving memory of Pol.
