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?

In 1999 we were involved in a survey where Dr Kakkis and his group were looking for children to participate in a study. However, even though Benjamin was doing very well for a 5-year-old ,he was a Hurler, so he was not included. But these steps in the right direction of getting enzyme replacement therapy out to children was an indicator to keep “preaching” about this treatment. And I did talk about it, to everybody I believed could make a difference. Anybody that I believed should know about this and could tell others.

Looking back, I realised that none of the doctors I spoke to - even those with close connections to families with children suffering from MPS 1 - mentioned that this study that was going on. I am sure it was because they did not want anybody to raise their expectations for a treatment that might arrive too late for their children.

My question is: was that the right decision to be made by these doctors? Would it be wrong to inform about a study being conducted with the aim to actually find a drug that can improve our children’s lives? Would it be wrong to tell us that there are people out “there” that take such interest in our children’s illness that they are willing to spend time and money on research? Would that be so much worse than telling us, “There is nothing to do. Make the most of what is now, and then move on afterwards”? Could this possibly make life worse?

Running against time

As time went by, Benjamin’s health was deteriorating. In 2001, when he was six-and-a-half, he was hospitalised due to respiratory problems. Due to low oxygen level he was given 100 per cent pure oxygen through a mask in the hope it would help him. Unfortunately this was the worst thing he could get as he could not exhale and it resulted in a high CO2 level, and he went into coma. They tried to intubate, first one doctor then another, but it was impossible.

Observing every step of the way in Benjamin’s room was terrible. To suddenly realise that this illness would kill him, was in all honesty a shock. However, when I concluded that there was nothing more to be done I remember thinking: “You had a good life Benjamin, and I am glad you could go to sleep now. We have been so blessed to have you with us.”

However, Benjamin managed to pull through with the help of another anaesthetist who was called on and had seen Benjamin before and knew of his throat problem. How lucky we were! A second chance! But it made me realise that all the work I did to make sure they all knew about enzyme replacement therapy might not benefit Benjamin after all, but it could still help other children. And this gave me more strength to carry on. The hope we had and the knowledge that somebody was working on a drug for Benjamin and others with MPS 1 really was of great help in the years from when he was diagnosed up until now. We realised that Benjamin might not live to see the day of Aldurazyme, the name given to the drug, but the hope made us feel alive.

In 2002 I remember attending our first MPS get-together in Norway and I was so optimistic as I knew it was just a matter of time before the drug would be released. How disappointed I was when I understood that hardly any of the MPS families knew what was about to happen. Why did they not know? Some had seen specialists I had talked to about the treatment many times. One mother was furious as to why she had never been told. She did not believe there would be anything to do for her child but just knowing that something was being done would have helped her emotionally. Is it to be expected that all parents should do their own work to keep themselves updated on the latest research? Is it prohibited for doctors to talk about possible future treatments?

Hope finally arrives

In the spring of 2003 we finally got the word that Aldurazyme had been approved by the FDA and was to be released on the European market shortly. Finally! This was exactly what we had hoped for. Somewhere along the line we had got the understanding that Benjamin had to start before he was 10. After that he would be considered “too old”. We did not have much time as he was now 9. However, I was convinced that we would be rewarded for the work I had done in constantly informing “the right people” about this treatment. So when we started the application process in September 2003 we believed it would be approved quickly.

Does anyone think about how much a prisoner costs society? I never thought about this until March 2004 when our application for Aldurazyme was turned down. Why was it turned down? It was too expensive and nobody wanted to pay for it. So we include prisoners in the national budget and are willing to spend even more money on each of them to keep them safely behind bars, but treating a child with a medication that will extend his or her life doesn’t count. And we just cannot afford it. How unfair.

In 1996 we had been told Benjamin would only live a few more years. Yet this message did not seem to trigger any sense, a full eight years later, that his case was a matter of urgency while processing the application form. They managed to waste five months before they turned it down. Imagine how long five months of a seven to 12-year life expectancy actually represents. And they honestly thought we would not fight back?

The hospital advised us to go via the proper channels, in other words send a letter to the health authorities and wait for their feedback. Alas, the only channel that works, apparently, is found in the media. On March 16, 2004 the story was released on one of the largest TV channels in Norway. This forced the Ministry of Health to review the case, which stunningly took only two hours before they instructed the local hospital to “pick up the bill” and get this boy his treatment.

On April 14, 2004 Benjamin got his first injection and he is still getting it every Thursday. He is doing very well and is bringing us lots of joy and happiness. His physical improvements are overwhelming.

His weekly presence at the hospital also changed many people working there by giving them a feeling of making a difference. This is important for Benjamin, and for us, as it promotes being positive and listening. Doctors increasingly listen to their colleagues, the nurses, the parents and patients. And it has changed us as parents. How? We truly understand the value of being part of a team at the hospital. We have learned the value of good communication and trust. By exercising those two skills there is no room for misunderstandings as everybody involved has one interest, and that is to make Benjamin’s life better. What more can any parent wish for?

Today we look back on that day, September 29, 1996, and we are grateful for the words, “There is nothing to do but to make the most of what is now. And then move on afterwards.” These words made us realise that we had to fight for a hope, and this fight kept Benjamin alive long enough to see the day that our hope could physically be touched, on April 14, 2004, when he started his treatment with Aldurazyme.