Ohio….Friends, Families and a Researchers Round Table

We had been planning our cross-country trip for quite some time. Carefully reviewing every detail leading up to our departure date last wednesday. We were positive everything was under control……..but like an episode of Big Brother and the shows mantra “Expect the Unexpected”, we were in for a surprise! As Catherine was packing the van she closed the front passenger door and became startled. The rear passenger window shattered into a million pieces…………..This was the largest window in the van and in the worst possible spot. It was the window where both Sophia and Jackson would be exposed to the onslaught of 60MPH winds during our drive. We called all the local window repair shops and there would be no service available until the following Monday.

We had a couple of options………..we could cancel our trip or we could try to figure out a way to make this work. An incredible amount of scheduling had gone into the planned festivities for the upcoming weekend. We decided to push ahead………..I ran to the local hardware store, grabbed a tarp and some twine. When I got home I went into the basement and pulled out the shop-vac, there was about 50 lbs of glass all over the inside of the van and all over our driveway.  Catherine was busy on the phone calling ahead to our destination, she was able to schedule a repair shop in Ohio to fix our window the day we arrived! We secured the opening and were on our way!

We arrived in Ohio Thursday afternoon. I dropped the family off at the hotel, unpacked the van and headed over to Safelite to have the window fixed. Dr Kaspar had planned a dinner at his house that evening and Dr Burgess would be there as well. Unfortunately the window would take longer than expected………..by the time I returned to the hotel it was pretty late and the kids were tired. We had to cancel dinner…….I made the phone call to Dr. Kaspar. We were very disappointed but Dr. Kaspar and Dr. Burgess created a solution. They were nice enough to offer to come by to meet the family. Dr. Kaspar brought 2 plates of the dinner he had prepared and Dr. Burgess brought the wine! It was an extremely nice gesture and we were able to discuss the itinerary for the next day…….a monumental day for Spinal Muscular Atrophy.

Friday morning we awoke bright and early. We got the kids ready and headed out to Nationwide Children’s Hospital. We would be finalizing our $500,000 Grant Agreement! This was an incredibly important day for everyone involved. The Gene Therapy Program was very close to running out of money……..this Grant would ensure that this program remained on target and on schedule. It was incredibly important to us that our donor realize the impact of their gift on our community. Our donor was flown in and the days itinerary was full of meetings and tours of the different parts of the lab. Our morning meet and greet included the President of the Nationwide Children’s research facility as well as the Hospital’s CEO. Dr Kaspar and his entire staff where there providing a very warm reception. After the morning conference we took a tour of the Purification facilities. There were many rooms filled with Lab equipment where basic research was performed. During the tour, we looked under a microscope at a tissue sample of a 1 day old primate treated with AAV9. This sample showed motor neurons and the efficiency of AAV9 SMN in penetrating those cells when administered systemically. Our next stop was the production labs. We were able to see a sample of human DNA which was illuminated using fluorescent dye. One of the researchers was discussing the product AAV9 SMN, and I had asked to see a vial. He explained it would look no different than water, but obliged and went to retrieve a sample. He handed over the sample…………he was right it looked just like water, but for me I was overcome with intense emotions. I knew what I had in my hand…………I was holding hope………….I was holding something that had the potential to eradicate a disease. We had worked so hard as a community to win the Pepsi Refresh Contest and that $250,000 was spent on the creation and production of what I now had in between my fingertips. That money was used to produce all of the AAV9 SMN that would be used in the testing of every animal that would validate our application for Human Clinical Trials. I was holding in my grasps a vial of something we had helped to create that could potentially help treat my daughter……. who was just inches from me…………a hope that was not afforded to me and did not exist less than 2 years earlier when she was diagnosed. To others it may have just looked like water…………..to me it looked like the miracle of life! I felt my eyes beginning to well up and I had a lump in my throat. It became extremely difficult to maintain my composure.

Our next destination on the tour was to a different part of the facility. We geared up in scrubs, gloves, booties, and a hair net. We passed through an isolation chamber that literally blew contaminants off of our clothes. I quickly realized why. Our first stop was an operating room for mice. The equipment was incredible and was extremely small. This machinery was very sensitive and had to be able to perform surgeries on a minute scale. Next up we met the mice. There were hundreds of cages, all labeled for date of birth and the various treatments they had received. I had previously envisioned what this room would look like and it wasn’t even close. To my surprise the mice seemed very comfortable and every cage was accessorized with toys to keep them stimulated. These were the cream of the crop……..these are the Delta 7 mice. These specimens are the barometer for which every possible treatment for SMA must pass through. The Delta 7 mice were designed to be severe……..like the most aggressive form of SMA. These mice only live 15 days……..and until now none of the potential treatments for SMA had been able to significantly increase survival in these animals. We pulled various mice from their cages who quite frankly should not be here. They looked healthy and these were Delta 7 mice that were 140 days old………….unheard of just a couple of years ago. I was witnessing the impossible. After saying our goodbyes to the mice we were shown the endurance facilities. There were many apparatuses in this area that measured the strength of the mice. There was a machine that measured the grip strength of the front and hind limbs. There were treadmills, and submersion pools to measure swimming abilities as well as cognitive thinking. In some of the pools different pictures are assimilated in multiple quadrants of the pool. A certain combination of pictures would alert the mice to an underwater platform where they would have a chance to rest. The mice would recognize this combination and remember this group of instructions. When the same pictures were moved to different sections of the pool the mice would immediately swim to that particular area and search for the platform. Even if the platform was removed……..they would continue to swim throughout that quadrant looking for the hidden platform. The next room we saw was a dark room. Mice tend to travel great distances primarily at night. In the wild, mice will run just over 2 miles every night. In this dark room were 50 cages set up with sophisticated wheels that measure revolutions. In this room that replicated night, the lab mice would run on these wheels and the distances would be measured. Interestingly the lab mice run the exact equivalent of what the wild mice would run out in the field. We had a short trip to the aquarium where Zebra fish were being studied. Our final destination would be the primate area. This area had double locking security doors to ensure isolation.  There were different rooms housing different animals based on age. The younger ones were grouped together and the older ones were in a different room. Seeing primates is a completely different experience. When you look into their eyes you can see the wheels in motion. Not only are you witnessing them but they are analyzing you as well. As I was asking questions I made the mistake of pointing at the Alpha male………he went nuts…..they do not like you to point or even smile at them. He quickly responded with a few menacing grunts and a flashing of his canines. I learned that if all of the monkeys were to escape from their cages they would fall right into a hierarchy and this Alpha Male would be in charge. I was amazed at how interested they were in my movements and body language. Our tour of the facility was done and we would return to the conference room.

At the conference room we were met by an amazing grouping of SMA researchers from the Burgess Labs at OSU as well as the researchers at Kaspar Labs at Nationwide. There were approximately 20 researchers total. This was an amazing opportunity to discuss SMA with not only the current crop of SMA specialists but the SMA specialists of tomorrow as well. It was an extremely relaxed setting………. A “Researchers Round Table” where we discussed future programs, with new targets and pathways for SMA research. Each side listened intently to what was discussed and as a parent I learned from them, and as researchers they learned from a parent. We all “got it” and we shared some common ground. The overall agreement for future programs was a 100 day survival target for the Delta 7 model to move a program forward. This meeting had given us the ability to share information with the researchers in regards to “red flags” for symptoms of an SMA patient that they were previously unaware of. The researchers had never experienced communication directly with families on this level before at any conferences they had attended. Typically they have presented their data and were questioned by the audience on their findings. Here the researchers themselves  were able to ask questions on a personal level directly with the families who were living with this disease every day. It was relayed to me later on that the researchers had learned so many things that they had previously been unaware of, and that at least 1 new avenue of research was opened up based on this meeting. We were excited to witness multiple presentations on other potential therapies that are showing much promise for Spinal Muscular Atrophy.

Saturday morning we had the great pleasure of meeting so many other SMA families that we have gotten to know throughout our journey. These families have become close friends to us through phone conversations as well as social media……..but many of them we were meeting for the first time in person. We all decided to meet up at the #1 ranked zoo in the country….the Columbus Zoo!  We were so excited to see MJ Queen and Brenda from B4SMA again as well as Michelle Worrellia. We had met them in Cincinnati at conference right after Sophia was diagnosed in 2009. The Swann family was also in attendance all the way from California. I first met the Swann family at the SMA Gala in L.A. back in January. This was the first time our entire families were able to meet. Sophia loved Kennedy, I think it comforted Sophia to see another girl around the same age as her. Kennedy’s brother Jacob was there as well and was such a good big brother. The Hilston/Marshall family also came and it was great to meet them and Alex in person. We have had many conversations  over the telephone and it is so nice to attach faces to the voices. The Miller family and Princess Leah came out and of course we had to talk about Leah’s inspiring efforts to claim the World Record for her chapstick collection! Dr. Kaspar as well as his wife Rita, and daughters Kaitlyn and Charlotte came out to join the families. It was very hot at the Zoo but Sophia did great with her Chilly Pad! It was the longest stretch we had been out in 90+ degree weather and the heat did not seem to bother her. The Columbus Zoo was great for children with disabilities. All of the partitions between the animals and the attendees were made of glass which did not obstruct Sophia’s view at all. Unfortunately, it was a crazy day at the Zoo and our caravan was separated. Michelle was our tour guide and brought us through many exhibits. At the end of the monkey exhibit was a sign that really stood out to us. It was a quote from Martin Luther.  Here we were……………in Ohio………at the Zoo with Dr. Kaspar. We have been funding his Gene Therapy Program and have heard so much criticism from the naysayers. The quote read “Everything that is done in the world is done by hope”.  We had Sophia and Dr Kaspar take a picture under this sign………One single sentence encapsulated so much meaning! It was a great day at the Zoo……but we were sad we did not get to spend enough time with some of the group we were separated from. We reached out to the Miller’s and Michelle the next night to go to The Cheesecake Factory for dinner. We wanted to share some quality time with them at dinner. It was a great time and for us it was another first! At this dinner we realized how good Sophia did at a public restaurant……….she enjoyed herself so much hanging out with Leah and taking in the hustle and bustle of a busy restaurant. We now look forward to going out to dinner more often with the kids. This was our last night in Ohio. We truly enjoyed every second of our stay and wished we could spend more time there with great friends!  The next morning we would be leaving for Wisconsin……..

Comments

  1. THANK YOU is NOT enough to say for all you do ….. I feel very humble each time I read the things you write, and THANK YOU, Gaynors, for sharing your life with us.

  2. Christine Hicks says:

    Just fascinating – glad you guys added fun to your adventure as well

  3. You guys are AMAZING. There are no words to thank you enough.

  4. I am so happy to hear this news, Gaynor family. I’ve been praying for a cure for SMA since I found out about it with Shane’s diagnosis January 1989. It’s too late for Shane, but I continue to pray for all the parents and babies who battle on in his absence.

  5. The detailed description of the Friday meeting at Nationwide Children’s Hospital is absolutely wonderful! So touching and inspiring and full of hope! Thank you for all you do for SMA!

  6. dear catherine and vincent~
    this was extremely moving~and i was shedding many tears of joy,
    that you all made it thru the hospital stay and many other pressures…
    and still got to go on the trip with the children~!!!!!!
    i am so thankful it all worked out~!!!
    pictures are lovely~!
    love ~
    michele

  7. Wonderful story and wonderful news! Congrats on all the great work you have been doing. I think that quote was Martin Luther though. :)

  8. Jennifer Calafiore says:

    So awesome to hold physical hope in your fingertips. Great job guys. Super LOVE the pictures. The pictures of Sophia watching her Kitty come to life are great. Looks like you all are having a blast.

  9. All so Inspiring! Thanks for sharing!

  10. meghan littlefield says:

    all I can say is wow…beautiful and touching.

  11. Mencía says:

    Awesome! Congratulations once again, and keep going!!

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