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A Mom’s Advice: 10 Tips About Kids in Clinical Trials

Mike and Max
Mike and Max Randell

The morning after I posted last week’s “3 Gene Therapy Trials Report Good News,” I heard from my friend Ilyce Randell, whose son Max has had two gene therapies for Canavan Disease. Unlike the parents in last week’s post who have seen their children possibly respond mere weeks or months after gene therapy, Ilyce and her husband Mike have witnessed effects of gene therapy for more than 15 years. I’ve covered their story here and here and most importantly in “A Brother’s Love Fights Genetic Disease“.

I couldn’t wait for another DNA Science Thursday to roll around and knew the story was more than a quick update, so I wrote “Vision Improving 15 Years After Gene Therapy for Canavan Disease” for Rare Disease Report, my second blogging home.

When Max was born nearly 19 years ago, life expectancy for a child with Canavan disease was about 8. Perhaps docs didn’t recognize milder cases, but Max’s wasn’t mild. When his parents were given the option to enroll him in a clinical trial of gene therapy, they jumped at it, even though Maxie was only 11 months old. Here, Ilyce puts into words what many may be thinking but cannot articulate.

From Ilyce: “I wrote this a couple of days ago, prompted by questions and concerns that have been brought to me over the last 18 years. Maybe it could help some people who might be about to begin the same journey.

800px-Lab_mouse_mg_31401. CURING A MOUSE IN THE LAB DOES NOT EQUAL A CURE FOR HUMANS

Unfortunately science does not always translate immediately, or ever, from a murine model to human patients. Countless mice have regenerated motor function or been completely cured, while children have not. Reasons range from how the mouse model was created, to the differences in brain size, life expectancy, and metabolism of mice and human children. It’s definitely a step in the right direction and cause for celebration, but don’t pack your bags just yet because there is still a lot of work to be done between curing or helping the mouse and using the same technology to help our children.

2. ONE TO TWO YEARS TO A TRIAL NEVER HAPPENS

Prepare for disappointment and delays. No matter how promising and exciting the progress in the lab may seem, as soon as you hear the words, “we’re about one to two years away from a human trial,” just ignore the timeframe and try to find out what, if anything, you as a parent can do to help move things along more quickly. There are so many unforeseen complications that there is no way to really have any estimate until your trial is well into the review process.

Alex and Max
Alex and Max

3. ASK FOR SUPPORT FROM ANYONE WHO MIGHT BE ABLE TO HELP YOU, BUT DON’T EXPECT IT

Whether it’s increasing awareness or raising money, sometimes the people you assume will be gung ho to help are not, and often times help will come from the most unlikely places. Take whatever help you can find and don’t waste time worrying about the people who don’t become involved with your mission. Focus on the people who are by your side and forgive the people who aren’t.

4. DON’T SHOOT THE MESSENGER

If you decide to take the uphill path and try to get your child into a clinical trial, you need to know that most research for extremely rare diseases is parent-driven. Possibly before your child was even born, families were raising private funds to convince a researcher to work on some unheard-of disease, discover the gene responsible for causing it, support the gathering of preclinical data, meet with hundreds of people, and basically do everything necessary to get to the point where you come into the picture.

Sometimes we must first develop medical interventions that can slow or halt progression of a degenerative disease in order to buy time for our kids. This is agonizing because we have to wait, and worse, we have to raise money. When new families ask me what’s being done and why it’s taking so long, I tell them it’s because we need more money. Whatever we have is never enough. We need government money, biotech money, and we will always need privately-raised funds.

Fundraising is a big part of life for rare disease families. Me with Hannah Sames at the Hannah's Hope Run a year ago.
Fundraising is a big part of life for rare disease families. With Hannah Sames at the Hannah’s Hope Run a year ago.

If you want your child to receive experimental treatment and you want it sooner rather than later, you might need to help raise money. You do not have to help, but if you choose not to, then you are relying on others to determine the fate of your child.

5. KNOW EXACTLY WHERE THE MONEY YOU RAISE IS GOING

If you become involved in raising money for a cure, you’ll probably find several places to send it. If you want the money to go directly to research, or to a specific researcher, then you need to ask the important questions and fact-check. Ask the person who controls the money how and if you can earmark it for a specific purpose.

Most organizations have a way to collect money from families, but they might not be financially supporting the researcher who is working on the cure for your child’s disease every single year. Or they might not have a way to earmark funds. It’s not always as simple as sending in a check and writing a researcher’s name in the memo-that almost never works unless you have made proper arrangements. If you send money to an organization, those funds can be used to support the organization and not the research you want. When in doubt ask and check online, because it’s all public record.

240px-Emojione_1F4B0.svg6. SECURING MEDICAL TREATMENT FOR YOUR CHILD CAN BECOME A FULL TIME JOB

…but with no pay and sometimes a ton of out-of-pocket expenses: travel, uncovered medical bills, even loss of work due to surgeries and follow-up testing. It can go on for months or even years, but sometimes there is no other way to save your child’s life.

7. DO RESEARCH AND BECOME AN EXPERT ON YOUR CHILD’S DISEASE

If you are planning to search the world for something to help your child, then learn more about the disease than any normal person should know.

Study everything being done.

Become familiar with every known vector, stem cell, and animal model.

When you speak to the team who is doing the work, you will need a medical background to understand them. Yes, you should always speak directly to the researchers yourself. Don’t be afraid to become overly-involved in the process. I might have been the most annoying parent ever, but my son has had gene therapy twice so I have no guilt or shame about the extreme measures I had to employ. If you need to start your own foundation to get things done, then do it.

Ilyce, Alex (future neuroscientist), and Max
Ilyce, Alex (future neuroscientist), and Max

8. PRAY FOR A MIRACLE BUT DON’T EXPECT ONE

This road is paved with delay, disappointment, and tears. Set high expectations, but don’t fall apart if things take too long, or the cure seems impossible. This requires thick skin and it can hurt more than anything you thought possible to watch your baby deteriorate while you stand helplessly by. Just keep working towards your mission and hopefully treatments and one day a cure will come.

There is no guarantee. My son had his second gene therapy almost 15 years ago and no new trials have materialized since then. But I’m never going to give up. He’s not cured, but he’s still here and sometimes that’s all we can hope for.

9. IF YOU ARE LUCKY ENOUGH TO GET YOUR CHILD ENROLLED IN A TRIAL, PLEASE KNOW EXACTLY WHAT YOU’RE GETTING INTO

I can vividly remember one of the doctors saying to me, “you do know you might just be extending his life, right?” It was exactly what I wanted.

I never dreamed that my son would be about to celebrate his 19th birthday. He is still profoundly disabled and requires full-time care. He is and will probably always be 100% dependent on me for his survival. I knew exactly what I was getting into.

max alexIf you have a child who is like my son please, please, please look ahead and make absolutely certain that this situation would work for you before you take drastic measures to medically extend his or her life without really curing them. This can and does happen because with such outstanding care comes a longer life. These cute little babies and kids will grow into adults, adults that love you and need you for their physical and emotional wellbeing.

My son will have a place in my home until he takes his last breath. He’s thriving, smart, and happy and he is the love of my life. This is exactly why I fought to keep him alive. I have had parents confide in me saying that they wish they had let the disease take a more natural course because they didn’t foresee a future that included a handicapped adult child living with them 20 years later. I’m just trying to bring to light a topic that people sometimes overlook or don’t want to think about.

10. DON’T EVER GIVE UP HOPE

Max with his physical therapist, taken recently
Max with his physical therapist, taken recently

Sometimes hope is the only thing we have. If you don’t cling to hope, then you won’t keep pushing towards your goal of saving your child. I’m not saying this always works, because I’ve seen too many children lose their battles way too young. But if you dream of a cure, just keep hoping and working towards it and maybe one day it will happen.

I know my son will most likely never be cured, but he’s been helped. I hope that my continued efforts to help him and all the kids will one day result in the cure for Canavan disease.”

Ilyce Randell
Canavan Research Illinois

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