A mother’s courage

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.