A mother’s courage

This is a moving story about the power and will of motherhood. Benjamin, the protagonist of the story is now a 12-year-old boy and is looking forward to a good future. His mother, Rita Hausken Barkhodaee a Norwegian, is as determined as ever to see him have the life, education and love he deserves.

A beautiful September day in 1996 - Wednesday the 29th to be exact - was shattered to pieces by very few words. “Benjamin is suffering from a progressive illness, either Hunter or Hurler, and will most likely die at a very young age.”

What? When? “When will he die?” I asked in disbelief. According to the pediatrician the statistics said sometime between seven and 12 years of age. How was this possible? In front of us we had a perfectly wonderful two-year-old boy! Did she really want us to believe we would only have him around for five more years?

What should we do? How would he die? “It sounds like you are telling me that Benjamin has AIDS and will die in five years of pneumonia or some other weird thing,” I said. She looked at us and then Benjamin and then back at us. “There is nothing to do but to make the most of what is now. And then move on afterwards.”

These words - “There is nothing to do but to make the most of what is now. And then move on afterwards” - really upset us. Obviously it made us tremendously sad, but it also made me extremely angry. Who was she to tell us what to do? These words would turn out to be the key to Benjamin’s life and what this story is all about.

We went to my parent’s house after seeing the doctor and the diagnosis was presented as we had heard it - without any hope. And when my mother tried to put the word “but” in a sentence, I jumped at her. I was upset that she did not understand that “there is no hope”. Then she looked at us and said, “As long as there is life there is hope!” How true this is! And how it would turn out to improve Benjamin’s life and ours.

Three weeks after we got the diagnosis we decided it was time to look at the bright side. We took a holiday together with my parents and went to the Canary Islands, where Benjamin then turned two years. After all Benjamin was doing well at the time and we had to enjoy it. Doing well may be a bit of an exaggeration - he was constantly struggling with all sorts of infections, joint stiffness, a painful umbilical hernia, and no more than 20 minutes consecutive sleep at night. But still, he was a happy boy.

“Nothing to do. Make the most of what is now.” The words were resonating in my brain. Could we really just sit there and wait? Was there nothing to be done? If there was anything that could be done, the pediatricians surely must know. Or was that to be expected? Could they know it all?

Searching for information

We must all take responsibility for our own actions or lack of action. Sure, we should expect the “experts” to tell us what to do, but in my experience - and, I am sure, in many of yours - we know that is not always the case. So I decided to hunt for information.

In Norway at the time, information was limited. Also I felt it was not the right time to get in contact with other parents in Norway in similar situations or the small organisation that existed. Why not? Because I felt I had to be selfish! Someone reading this might be offended by me saying this, but we Norwegians are not known for being the most optimistic people in the world. Just read Henrik Ibsen’s A Doll’s House and you pretty much get the picture. So, I could only turn to people that somehow would give me a positive view on things.

In January 1997, I came across an article written by Dr Emil Kakkis and I decided to send him a letter. He wrote back telling me that they were close to getting started on an enzyme replacement therapy on humans. However, he said I should not get high hopes for Benjamin. After all, Benjamin was diagnosed with Hurler (MPS I), not Hunter Syndrome (MPS II). Still, this was music to our ears! Somebody was actually working on a drug for Benjamin! How wonderful! I also got in contact with a group of American families on a website and they made me feel good about what we were doing. It also turned out to be very useful for getting to grips with Benjamin’s symptoms before they became a problem.

Because the pediatricians at the hospital noticed that we took a very active role in Benjamin’s health, and were able to contribute in a constructive manner as to what we should do in various situations, they listened to us. They also listened when I eagerly talked about the enzyme replacement therapy that “would come and be a wonderful treatment for MPS 1”. But I am not so sure they believed in it. This resulted in some doctors repeating the message that we had heard that dark day in 1996: “There is nothing to do. Make the most of what is now, and then move on afterwards. Do not waste your time on this.” OK, so you are telling us to spend our time and money on golf instead?