How Naglazyme has helped me

I was born on December 16, 1973. I was 21½ inches long and weighed about 9 and 3-quarter pounds. I appeared to be a normal healthy baby. When I was about 3½-years-old my ribs started sticking out from my chest and my stomach started to protrude. The doctors performed testing for various disorders. When the doctors came back with the results, they told my parents that I had a rare disease called Mucopolysaccharidosis Maroteaux-Lamy syndrome, type VI, or MPS 6. The doctors told my parents to enjoy what little time we had because I probably wouldn’t make it past my 8th birthday. The first time I went to a dentist, he told my mother while I was sitting in the chair, that it was too bad that I would not live to see 13. After I passed my 13th birthday I was told I would not live beyond age 16, then 18, that I was on borrowed time, I would not see my 25th birthday, and no one with MPS 6 ever saw their 30th birthday. Well, 30 surgeries later and at the age of 32 years old, I have proved every doctor wrong!

I have been classified as having a semi slow progression of MPS 6, although it seems as though it has moved quite rapidly enough for my liking, and that the serious health problems related to MPS 6 did not onset until I was about 20 years old. My surgeries until then were relatively minor; things like repairing hernias, hearing problems, and carpal tunnel in both wrists. I had a corneal transplant when I was 16, followed by a brain shunt for hydrocephalus, a laminectomy (procedure to clear an impingement of my spinal cord) of my top three vertebrae when I was 19. Then I had another laminectomy when I was 23 with another brain shunt being implanted, as the first had stopped working during my second laminectomy.

I was then diagnosed with sleep apnea and required the use of a bipap machine, so I would not stop breathing when I slept. This worked well except for when I got colds, which for me were severe and yearly, each time lasting about four to six weeks. My sinuses would be so plugged the bipap could not blow hard enough for me to be able to breath, which resulted in my feeling like I was part of a sleep deprivation experiment.

During this general time my hearing began worsening, as MPS 6 causes thickening of the skin, which was closing down my ear passages. I could hear fairly well immediately after having my ears cleaned, which I had to have done about twice a week because something as small as a fleck of dandruff or natural sloughing of skin cells, would clog them. My ear doctor always saw me as a great challenge, as even the smallest of his tools were too big for my ear canals. I could not use a hearing aid, as one could not be made small enough for my canals.

When I was about 24 years old, my father called me and told me about a new medication that he had seen on the news show, 60 Minutes. He couldn’t tell me much about the medication other than it was experimental for those with MPS 6. He told me that I should look into it, but prior to this, the only partial remedy that we had ever heard about was a bone marrow transplant, which I knew to be a very risky and dangerous procedure with no guarantees, so I was not enthusiastic. My mother had always protected me from the many doctors who wanted to use me as a guinea pig for their various proposed procedures and experiments, so I chalked the new treatment up to someone wanting me to be a lab rat.

I then had to have a mechanical heart valve implanted when I was 26, as my mitral valve was only closing about halfway. After I had the mechanical heart valve put in, as well as my aorta and a few other pieces of the heart removed to make them larger to reverse thickening that MPS 6 had caused, I felt better immediately.

After my heart surgery I still had a problem with my yearly severe colds, during which adequate breathing while I slept was impossible. The colds were getting worse and more frequent the older I got and the lack of my being able to sleep without the bipap certainly didn’t help my recovery. I also had to have both of my ears “honed out”, as they had gotten so small that they were impossible to keep open.

One day while I was surfing the web I came across the MPS Society webpage, which prior to this I had avoided because of my frustration in knowing my condition was only going to get worse with there being little to no hope. There was a link to something called the Ryan Foundation, which sounded a lot like the treatment my father had told me he had seen on 60 Minutes. I read about how Ryan, who has MPS 1, was receiving enzyme replacement therapy, which helped him dramatically.

The thing I found most exciting was how Ryan related that after he was on the treatment his protruding stomach, which is common to those with MPS, started to go away. I called Ryan’s father, who provided contact information to a doctor who was right in my own backyard. You see, he was at Oakland Children’s Hospital, which is only about 40 miles away from Napa. I emailed the doctor, Dr. Paul Harmatz, thinking it would be some time before I received a response but to my amazement he replied within 15 minutes.

Dr. Harmatz was extremely excited by the fact that not only was I 29 years old, which is a rarity for those with MPS 6, I was extremely close to Oakland. He had people coming literally from all over the world for the first phases of the Naglayzme study, which was enzyme replacement therapy similar to what Ryan had been receiving. Dr. Harmatz set an appointment to meet with my family and I very shortly after our first contact, as phase three of the study was about to commence, after which I underwent quite a lot of testing to make sure I qualified.

During the time I was undergoing testing, I had another ear surgery at UCSF, as they had the only anesthesiologists that were able to put me under anesthesia that I was aware of. During this surgery, they removed my left outer ear to hone the mastoid bone and do a skin graft so my ear canal would be open enough for a hearing aid.

Soon after I got my first hearing aid, I started the double blind test for Naglazyme along with five other MPS 6 patients, in August of 2003. I felt like a grandfather to them, as they ranged from age eight to 15 and I was the ripe old age of 29. It became a game for us to try and guess who was receiving the actual Naglazyme and who was receiving a placebo but within three treatments, which were weekly, I knew I was receiving the real deal. I told my mother that I was so sure I was getting Naglazyme that if it turned out that I wasn’t, I would be the biggest fool in the world, as my improvement was dramatic.

The first thing I noticed was my skin softening and how much more easily nurses could draw blood from me, as prior to this my skin was so thick that only a few specialists could do so. My acne then cleared up, my hair no longer fell out readily and was less course, I was able to straighten my fingers more than I could ever remember being able to do, and I could reach further over my shoulders.

Within three months I had to have my hearing aid refitted, as the canal widened to such a degree that the aid no longer fit. Within another three months I no longer had to wear my hearing aid at all and my right ear, which I had previously been looking forward to having surgery on to widen it as well, opened up. I was amazed at how excited a person could become after my ear doctor, who had been treating me since I was six, could actually see my eardrum.

My stamina improved dramatically and I exceeded the physical testing I had done at the beginning of the study by far. Most exciting for me was almost doubling the amount of quarters I could pick up off a flat table within a minute. It did not surprise me at all when I learned after the first six months of the study that I had been receiving the actual Naglazyme. Within a year I was taller by 1½ inch due to my being able to straighten my legs more. The most amazing thing to me is that I no longer suffer from the protracted and severe colds like I used to. I have only had two colds since staring Naglazyme and neither lasted more than two days.

Since starting treatment I have had to have one surgery, which was a hip replacement due to degenerative bone loss that I primarily suffered prior to beginning treatment with Naglazyme. The upside of this was that it was much easier for the anesthesiologist to put me under, as my air passages had widened.

I am grateful that I overcame my initial reluctance to participate in any types of studies for those with MPS. Not only have I made physical improvements for a much better quality of life, I have met others with MPS and those who are helping us who have MPS with whom I have formed a lifelong bond of friendship. This program is the best thing that ever happened to me, because I met two very special kids and their family. Harold and Patricia, who also have MPS 6, and their family from the Dominican Republic are now living with me and are part of my family. I also made another friend, Kristin, who is close to my age. We have been close friends ever since we met.

Why I took on the roll of being the official spokes person of this new therapy.

I chose to accept the roll of being the official spokesperson for Naglazyme for many reasons with the foremost being that I would like others who suffer from this strange and wonderful disease to not have to suffer quite as much as I have. The more people become aware of MPS, including medical professionals who are the primary ones who diagnose it then those with the disease can start therapy younger and not suffer the negative effects as much. Although I made it to the age of 32 I have had to endure a lot of surgeries and medical procedures that would have been minimized and/or eliminated if Naglazyme therapy had been available when I was a young child.

When I look at the physical advances of others that have been receiving Naglazyme therapy with me, including growing taller and improvement in hearing, it pleases me greatly. If I can make others aware of MPS so that others can be diagnosed at an earlier age then what I have endured is minimized. I would encourage anyone who learns of someone with MPS to make them aware there are options and that this disease is not necessarily an early death sentence after much suffering.

Please contact me if you have any questions and I will be happy to try to help by answering them or at least pointing you in the right direction for answers.

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