How “your son is dying, give up” became a profound gift

“Your son is going to die. Quit your job, stay home with him, and make the most of the time you have left.”

It felt like my heart had stopped beating. Everything was moving in slow motion. This must be a misunderstanding, I thought. There were so many questions running through my mind. How did this happen? What should we do? How will he die?

It was September 29, 1996. My little Benjamin was just two years old and had just been diagnosed with Hurler Syndrome (MPS 1), a progressive genetic disorder that affects just 1 in every 100,000 births.

If you’re not familiar with this disorder, it’s a progressive illness that creates a buildup of sugar in the body, which attacks major organs as it accumulates.

“He has 10 years if you’re lucky. Five if you aren’t.”

I would lose my son before he even became a teenager.

That day would forever haunt me. I remember it as if it were yesterday. I was so angry. Who were these doctors to tell us what to do?

It felt as though everyone had already given up hope on my son. Not me. These words would turn out to provide the keys to Benjamin’s life, and one of the reasons he lived to be 27 1/2, the oldest known person with Hurler Syndrome. He was one of the happiest people I know.

Never let other people’s limiting beliefs become your beliefs

Experts are experts for a reason. And, you and I still have a voice. We still have choice and agency.

When my son’s doctors delivered their prognosis, I had a choice to either let it paralyze me or use it as a catalyst to make a difference in this world.

I had been faced with this choice once before already, when our family was told that Benjamin would die from a Clostridium bacterial infection. Unwilling to accept that outcome, I introduced the solution of a fecal transplant, which cured him and became a recognized treatment 20 years later.

So, I chose to make this moment a catalyst.

In January 1997, I contacted Dr. Emil Kakkis at UCLA after I came across an article written by him. His team was close to getting started on an enzyme replacement therapy for humans, a possible treatment for Benjamin! It was music to my ears.

I brought this to the pediatricians at Benjamin’s hospital. They noticed how we’d taken an active role and contributed constructively in Benjamin’s care, so they listened to us. I shared about the treatment, but I could tell they didn’t believe it was possible. “There is nothing we can do. Move on,” they repeated.

To this day, I still find it shocking how committed professionals can be to their limiting beliefs. What could possibly be more important to us than exploring every option for our son’s life? How could they be so certain that we should give up?

I would not allow their limiting beliefs to become mine. There were no medical professionals in the world that could stop me from believing that I could make a difference.

Hope

In 1999, Dr. Kakkis and his group started looking for children to participate in a study. It was time to move their trials from mice to humans. Sadly, even though Benjamin was doing very well for a five year old, he had the most severe form of MPS 1, so we were told that he would not receive treatment. It was hard news to receive.

However, this study was a step in the right direction for Benjamin, us, and other children and families. I spoke about this life-changing possibility with everyone I believed it could make a difference for.

But, looking back, I realize that none of the doctors I spoke with believed in the treatment yet. So, they weren’t mentioning it to their other patients and families. Perhaps fear held them back — better not give them hope, in case the treatment arrives too late.

But why not? A glimmer of hope could let stricken families know: someone cares and wants to help.

Death and life

As time went by, Benjamin’s health was deteriorating. In 2001, when he was six and a half, he was hospitalized due to respiratory problems. He was given oxygen through a mask but, because he couldn’t exhale, it caused a build-up of CO2 and he slipped into a coma.

It was terrible to watch. As each anesthetist tried and failed to get a breathing tube down his throat, I remembered feeling defeated. You had a good life, Benjamin. I’m glad you can go to sleep now. We’ve been so blessed to have you with us. Then I heard the words in my own voice: There is nothing more we can do.

Then, suddenly, the door to his hospital room flew wide open. Another anesthetist, who was about to visit Benjamin, had heard something was wrong. He threw himself into maneuvering the tube through Benjamin’s trachea. 

Everything slowed to slow motion. I can’t recall any sounds; it was like a silent movie. I was exhausted and in shock. Then, finally, I heard the words, “Rita, he has a chance.”

A second chance!

At that moment, I realized the power of someone who cares and wants to help.

And I saw that, while Benjamin might not benefit from my sharing about Dr. Kakkis’ enzyme replacement therapy, doing so could still help other children and families. I had an opportunity to make a difference. I chose to take it.

The hope that we had from the knowledge that somebody was working on a drug for Benjamin and others with MPS 1 helped carry us through the years. While Benjamin might not live to see Aldurazyme (the name given to the drug) released, the hope made me feel alive. It helped me see each day as a gift.

In 2002, Aldurazyme was close to being released. I remember attending the first MPS get-together in Norway, optimistic about the progress. There, I realized that almost no other families knew about this treatment and what was about to happen. I was crestfallen.

How could it be that they didn’t know? Some had been seeing the specialists that I’d talked to about the treatment, many times. One mother was furious. She had been devastated by the idea that there was nothing she could do for her child.

Even a little sliver of hope could have helped her emotionally through those dark times.

A treatment finally arrives… or does it?

In the spring of 2003, we finally got word that Aldurazyme had been approved by the Food and Drug Administration and was to be released on the European market shortly. This was exactly what we had hoped for.

Benjamin, then nine, had to start treatment before he was 10, so we sent our application immediately, convinced that we would be rewarded for our hard work informing people about this treatment.

Our application was turned down six months later.

The treatment was too expensive for anyone to pay for.

Opportunity opens up

In 1996, we were told Benjamin would only live a few more years. By 2003, he was way past that prediction and living on borrowed time.

When you know your purpose, the fear of taking risks and failing disappears.

We had found our way to another “impossible.” But I was on a mission. I had been given an opportunity to make a difference, and I would not let anyone stop me.

I connected with a colleague of mine, who suggested that we bring our situation up with her dad, the political editor of one of Norway’s largest TV channels. He immediately recognized the importance of our case and engaged his reporters. The coverage led the Ministry of Health to review our case, which stunningly took only two hours before they instructed the local hospital to treat Benjamin.

One month later, he got his first injection, and the physical improvements were overwhelming. From there, every week, for the next five years, he got this enzyme replacement therapy at the hospital. After that, he started receiving it at home.

His weekly presence at the hospital transformed the lives of the people working there. They could see the difference they were making. We saw how his story changed the way doctors, nurses, patients, and parents interacted with each other. There was a sense of possibility. Conversations opened up.

We understood, then, that we were all on one team and we all needed each other.

The reality

Did life become a walk in the park from there? Not at all. We’ve continued to face challenges since then.

There was a moment when we had to consider ending Benjamin’s life, after he’d spent three months in another coma. But, once again, he was saved in the twelfth hour, this time by the Royal Manchester Children’s Hospital.

We also spent five years fighting the government’s decision to send Benjamin’s friend and assistant, Maria, back to her home country. We finally won the case after tremendous time in court.

And, Benjamin stopped speaking when he was nine and a half years old, so in some ways, he was like a toddler throughout the rest of his life. He could be awake for 48 consecutive hours and needed a wheelchair to get around.

But, even with all of these challenges, what I know to be true is that Benjamin was possibly one of the happiest people ever because his happiness was always the highest priority. With that, he brought joy to everyone who got to meet him.

Now what? 

I look back on that day in 1996, and I’m grateful for the words, “There is nothing to be done. Move on.”

Those words were brutal, but they catalyzed my drive to create a different reality. They made me realize that we had to take personality responsibility, be leaders, and fight for hope and possibility, even when everyone around us told us there was none to be found.

We could have given up. Instead, we asked ourselves, “Why is this happening for us?” That kept us going all the way up to and through the day that we hoped for: the day that Benjamin could start his treatment.

By the time he passed, Benjamin was the oldest known person with Hurler Syndrome. Each day was a gift. He taught me the most important lessons in life: listen to your gut, never doubt your ability to challenge the status quo and create a different reality, and ask for and be willing to receive help.

Over the course of Benjamin’s life, I got to see how taking risks, speaking up, and sharing new ideas, regardless of how crazy they sound, saves lives and creates innovative, sustainable solutions for the problems in our world.

My work today honors Benjamin’s legacy. He passed away on 24th March 2022.  In every person that I meet, I see an untapped reserve that holds ideas and solutions that we need access to.

Every single one of us has the fire within us to change the world beyond our wildest dreams.

What will be possible when you tap into yours?