A MESSAGE TO NEWLY DIAGNOSED FAMILIES

Letter from the Executive Director

I will never forget the sounds coming from deep inside my body. Giant Axonal Neuropathy was the diagnosis…. “There is nothing that will help Hannah. She will weaken and lose all abilities”.

The only control I had, literally was of my bowels. I jumped up and draped my body over the exam table in front of me. In between cries like I had never experienced before, I sobbed and repeated, “No God, she’s so precious, no God, no. She’s so precious!”

That was nearly 14 years ago. As I write this message to you, in your darkest days, Hannah is incredibly happy and so am I! We are living our best lives! I want to tell you our story to give you a candle of hope in these dark days.

Do we wish things were different? Yes. But we haven’t allowed GAN to get in the way of happiness and contentment.

I recall being frustrated with Hannah’s third-grade teacher. Hannah was still getting good grades but was falling behind due to a lack of stamina. She came home from school tired, and I was getting tired of doing the home projects that Hannah didn’t have the dexterity to do.

I clearly recall the day I decided we were done with homework, done with studying for tests, and done feeling guilty about it! That’s not how we wanted to spend our precious time! I figured if we found a treatment in Hannah’s lifetime, she could keep changing jobs until she felt fulfilled, and a degree isn’t needed for that.

Hannah longed for friendships; her peers from preschool and elementary school didn’t pay attention to her any longer. So we traveled to New Jersey and looked at a school for disabled children, as I was willing to move if Hannah wanted to attend a school with peers. Sadly, Hannah would have been the only child at the school without cognitive impairment, so she remained at her high school throughout her junior year (the second year of the Covid-19 Pandemic).

During the Pandemic, Hannah would connect to school via zoom twice a week. She was in the community-based work development program. The lessons were very basic, common-sense scenarios about the workplace and work ethic and she was incredibly bored.

In May of 2021 following a Zoom session, Hannah said, “I have an idea. How about I graduate this year?” I stopped in my tracks, turned to her, and said, “That is a fabulous idea!”.

While Hannah lacked the number of credits to officially graduate, we let her “graduate” a year early. Another great decision! I realize that if both parents have to work outside the home, this may be impossible, but forcing academics to prepare a child with a short life expectancy for a career is something we chose not to do and have no regrets.

If Hannah enjoyed school and actually wanted to go, of course, we would have supported her. Instead, we chose to support her unconventional wishes and I’m so happy we did!

As I write this to you, I’m sitting in the lobby of our apartment building in Delray Beach, FL. Winters in the northeast are brutal. Hannah hates it! I promised Hannah we would spend this winter in the Florida sun and am very thankful I was able to make this happen.

The early months of Hannah’s diagnosis were my darkest days. As I dove into genetic disease, I was able to begin to feel thankful Hannah was given GAN and not Batten Disease or Canavan Disease, where the essence of the person is quickly gone after the onset of symptoms. Despite her physical challenges, Hannah is very much here, and she is happy.

I also made the decision to do everything I can to develop treatments for this horrific disease. I would have no regrets.

The early years were brutal. I worked 20 hours a day, combing the globe for scientists who had studied GAN or a related pathway.

I realize I have post-traumatic stress disorder. You very likely will too. But I want you to know if you focus on LIVING and doing TODAY what makes you and your child happy, you both will feel joy! Yes, you will feel joy again!

We also made the choice to not tell Hannah her prognosis. Tomorrow isn’t promised for any of us, so we saw no benefit in telling her she had a terminal disorder. Besides, I knew with every fiber of my being Hannah would one day receive the gene therapy we were working so hard to develop. And, she did!

Hannah’s day finally came on July 23rd of 2016. We had ZERO reservations about enrolling Hannah in a first-in-human gene therapy clinical trial because she was so fragile. GAN was so rapidly destroying her, that her tomorrows looked too grim. Her quality of life would be too poor if she lost much more. She had nothing to lose!

Hannah was patient number 5 in the clinical trial that is still ongoing. She was the first patient who received an immunomodulation protocol along with gene therapy. This was necessary to make certain her immune system didn’t reject the protein the new gene would produce in her cells. Due to the type of mutation, Hannah has on both copies of her GAN gene, her cells don’t make any of the gigaxonin protein needed to keep excess or damaged proteins from building up in nerve cells. Other types of mutations are more forgiving and a small amount of protein is present and thus known to the immune system.

The most stressful day was when Hannah had to get at least a 50% on the Pulmonary Function Test in order to qualify to be chosen for trial participation. GAN patients have trouble closing their mouths around objects, yet she had to force enough air into the machine to register a score of 50%. It’s like trying to blow up a balloon with your mouth open. But she did it!

I believe the AAV9/GAN gene therapy to the central nervous system is beneficial, but the studies are ongoing.

Miraculously, I believe one of the immunomodulation drugs Hannah started for the gene therapy has helped treat GAN. Hannah is still on this drug called Rapamycin (Sirolimus). Another GAN patient was able to convince her doctor to try this drug, but it is not yet known if she will see benefits.

We have a novel compound we refer to as “earthquake”. This compound seems to take down the scaffolding the intermediate filament proteins adhere to, causing swollen, “giant” axons. We are working with a company to turn this compound into a drug that will be tested in animal models of GAN.

There is a drug that is currently FDA-approved to treat diabetes that shows promising results in a cell model of GAN. This drug is currently being tested in GAN mice.

Please have hope! Live for today without fear of tomorrow. Know that we are working tirelessly to provide a wonderful tomorrow for all suffering with GAN.

Lori Sames
Executive Director

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CLINICAL TRIALS

AAV9/GAN gene therapy clinical trial identifier: NCT02362438

https://clinicaltrials.gov/ct2/show/NCT02362438