One Year Later: Notice Served

By Sharon King

There is so much love in this photograph. A family wrapped around its youngest member as she celebrates her achievement in completing a second 5k — and improving her time. You might be thinking this isn’t such a big deal, but Taylor was blind and beginning to suffer additional effects of CLN1 disease (Batten disease). She was a winner that day, as she was so many other days in her short life.

Taylor’s efforts inspired her older sister to begin running. When Batten disease stole Taylor’s ability to run, Laura took the baton and ran for her. Laura is still running for Taylor today, even though Taylor left us 20 months ago.

Imagine the photograph without Taylor. There is such a hole in the middle of our family, and we’ll never be able to fill it.

You haven’t heard much from Taylor’s Tale in the past year. We’ve spent a lot of time trying to figure out life without Taylor. My daughter finished her race, but I’ll never say that Batten disease won. It’s still running, and Taylor’s family and so many others are now carrying the baton on her behalf. Batten disease only wins if we quit before we reach the finish line.

I searched “Tips for Winning a Race” and found the following suggestions from WikiHow:

  • Go slow at first, then pick up your pace during the end of the race.
  • Keep most of your energy until the last lap.
  • Winning a race is a lot about the training and preparation as well as how skilled you are but that’s not everything. Winning a race has to do with the confidence, competitiveness and mindset of the runner, swimmer, biker, etc.
  • Without the heart and the will to win one will never win any race.

A year ago today, I thought we were coming up on a significant mile-marker — not yet the finish line, but the glimpse of something worth cheering about. On May 21, 2019, Abeona Therapeutics made an announcement:

… cleared to begin a Phase 1/2 clinical trial evaluating its novel, one-time gene therapy ABO-202 for the treatment of CLN1 disease, following acceptance of its Investigational New Drug (IND) application by the U.S. Food and Drug Administration.

Abeona Therapeutics

In other words, they were cleared to begin a clinical trial. Yet one year later, we are still waiting on the trial to begin. Word to the wise — just because you see the goal over the horizon, doesn’t mean you can slow down.

I’m looking at you, Abeona. I’m watching. And I’m not watching idly.

… pick up your pace during the end of the race…keep most of your energy until the last lap …

So, I’m asking myself, what is the mindset of top athletes? I believe it is the realization that whatever adversity they face, they still have the ability to be successful.

Confidence

Taylor faced so much adversity — more than her fair share, for sure. Meanwhile, she never complained. She found her way.

We can find our way through this difficulty, too, because we have the heart and the will to win …

I’m a mother with high expectations (I’ve been in training for 14 years, and I’ve earned the right). From here on out, I intend to be fierce. Relentless. Take-no-prisoners tough.

For her.

For all of the children and families living with CLN1 disease, now and in the future.

Notice served.


For Patients and Their Families, CLN1 Disease is a Daily Struggle

By Lillis Hendrickson

It’s 10 a.m. on a Saturday morning, but Kyleen Douglas has been up since 6 a.m. the day before. Her daughter, Kailyn, 8, hasn’t slept either. Kailyn has CLN1 disease (Batten disease). When she was first diagnosed two years ago, she didn’t have any mobility or vision issues, but her symptoms progressed, including loss of speech and motor function and sleep disruption.

Kailyn Douglas and family
Kailyn Douglas (center) has CLN1 disease.

“The day isn’t carefree anymore,” Kyleen said. “Between worrying about getting Kailyn to school or physical therapy, tracking her moods and her sleep, making sure she’s taken her medicine, watching her to see if that stare is a normal stare or a silent seizure, there isn’t a moment to breathe or be calm.”

Joe Coyne’s son Garrett, 9, also suffers from CLN1 disease. Diagnosed at age 4, Garrett now requires constant care.

“It’s not easy,” Joe said. “Twenty-four-hour care is 24-hour care. We get up early with Garrett, change and feed him. We move him from an activity chair to a wheelchair, and eventually get him to school for a few hours. One of us has to be home when he gets out, and then we change him and feed him. Nancy and I rotate nights sleeping with Garrett to monitor if his feeding tube comes out or if he’s struggling to sleep.”

Coyne family
Father Joe Coyne says Garrett (center) requires 24-hour care.

Kailyn and Garrett have aides who visit during the week, giving their parents and siblings a chance to take a break, grab groceries, clean or spend time with their other children.

“We have an aide who comes a few days a week for just a couple of hours, but it gives me a chance to sit with Keeleigh and do homework or run out for an errand,” Kyleen said.

“I never understood why families with disabilities disappear, but the difficulties of traveling or even just getting out in the community can be overwhelming,” Joe echoed. “Trying to leave the house for the grocery store isn’t a quick trip anymore.”

Both Joe and Kyleen feel the same way: exhausted. Not only do they spend most of their time caring for their children, they have the added pressure of trying to keep ahead of CLN1 disease as it progresses. Without a clear roadmap, they’re left to deal with problems as they arise, searching for the appropriate specialist, therapist or piece of equipment. They say a clinical care strategy could change that.

“A lot of people I interact with say, ‘I don’t know how you do it.’ But what else would I do?” Kyleen said. “You either give up, or you figure it out. Having a care strategy would not have given us any time back, but it would have changed how we spent that time — with Kailyn.”

“Having a care strategy would relieve a massive amount of stress,” Joe said. “Sometimes it can take months to resolve an issue, but if we knew how to address things before they arose, it would help. It would give you best practices, talking points with your doctor, so that you could spend less time researching and more time focusing on the things that are important, like your kid and your family. You can try to have as normal of an unnormal family as you’ll ever have.”

Currently, no such resource exists, leaving families like Joe’s and Kyleen’s to search the internet for limited, disheartening information. Dr. Susan Shaffner, a general pediatrician in Charlotte, North Carolina, supports the development of protocols for doctors, patients and families for CLN1 disease and other rare diseases.

“Forming care strategies is so important for patients, parents and physicians,” Shaffner said. “Right now, it’s a matter of seeking out a specialist as issues arise, which isn’t proactive and can be time-consuming for doctors and parents. With other common disorders, there is a protocol, a template you go through — you get tests at certain ages or milestones, you can go to multidisciplinary clinics to see all of your specialists in one place. This is what we need to see for rare diseases as well, especially those like Batten.”

In May, Taylor’s Tale brought together a multidisciplinary team from around the globe to discuss clinical care strategies for CLN1 disease. Arming doctors and parents with information and actionable steps can drive lasting change over time for families like the Douglases and the Coynes. Stay tuned for more.