What it feels like: My son has Hurler syndrome

Hurler syndrome is a rare, progressive disorder diagnosed in children as young as a year old.

Emma Jones 11 minute read May 9, 2022
alex oliver hurler syndrome

Alex Oliver, before his Hurler Syndrome diagnosis, with his father and mother, Caroline Marie Fidalgo. SUPPLIED

When Caroline Fidalgo and her boyfriend took their son, Alex Oliver, for an MRI, she was initially confused as to why the nurse was asking her so many questions about her son’s snoring and sleeping patterns. A few weeks later, Alex Oliver was diagnosed with Mucopolysaccharidoses type 1-H, also known as Hurler syndrome, a rare genetic disorder.

Mucopolysaccharidoses (MPS) is a group of genetic disorders characterized by the deficiency of an enzyme responsible for breaking down a specific types of sugar molecules called mucopolysaccharides, according to Johns Hopkins Medicine. Without these enzymes, the sugars are stored improperly and can begin to build up throughout the body — including in the brain, organs and joints.

Hurler syndrome is the most severe form of MPS. Children with this condition may experience skeletal abnormalities including a warped spine, carpal tunnel syndrome, joint stiffness and coarse facial features; an enlarged liver or spleen; retinal degeneration and/or blindness; difficulty breathing and intellectual disability. Children with Hurler syndrome have an average life expectancy of under ten years, however, bone marrow transplants may stop further damage from taking place and translate to long-term favourable outcomes, as donor cells will carry the missing enzyme.

Caroline sat down with us to talk about coming to terms with her son’s diagnosis, three tries at a successful bone marrow transplant and her hopes for Alex Oliver.

This interview has been edited for length and clarity.

What led to your son’s diagnosis?

For a child to have this disease both parents needs to be a carrier. My boyfriend and I didn’t know that we were carriers for Hurler syndrome. So yes, he had it from birth, but we only discovered it when he was around 21 months old.

We were kind of lucky because he was scheduled for an MRI. I can’t really remember the reason for the MRI, But when we got there, the nurse was asking many questions such as does he snore? Does he always have his mouth open? Does he sleep well? Does he eat well? Does he walk well? At what age do you start walking, talking, being seated? We didn’t know what was happening back then. The radiologist came back to us and said that we couldn’t do the MRI that day, that we had to go through a pre-op, which is meeting with a nurse, a doctor and an anesthesiologist before doing the MRI.

I finally got a phone call from a genetics nurse telling me they had suspicions that my son had what they called a “storage disease,” and that they needed to investigate more. Eventually, I think the week after, we went see the geneticist and that’s when we learned he may have MPS.

The reason why the nurse was asking us all those questions [at the MRI] that were completely unrelated to the MRI was that she had worked in genetics before. So when she saw my son, she recognized the facial features that are characteristics of Hurler. That’s why she told the radiologist they couldn’t do the MRI, because for these kids, being put under anesthesia is really dangerous for them. And since he was a year old, he needed to be put to sleep for the MRI.

After further tests, Hurler syndrome was diagnosed about a month later. So yes, it was totally a coincidence.

alex oliver hurler syndrome

Alex Oliver was diagnosed with Mucopolysaccharidoses type 1-H, also known as Hurler syndrome, a rare genetic disorder. SUPPLIED

What is the treatment for Hurler syndrome? 

For all MPS diseases, there’s no cure. But for Hurler, there are two treatments. One is an enzyme replacement therapy, and then there is the golden standard which is stem cells.

What were you thinking when you were told that your son might have this genetic disorder?

We didn’t really understand because we didn’t know that we were carriers and in both our families there are no cases of MPS.

[It can] be frightening because it’s a degenerative disease, and usually patients don’t live past their teen years. It was really unexpected — plus, he was quite old already to [be diagnosed].

We were kind of relieved, in a way, that there was some kind of treatment, even though it only [slows] the progression — it’s not a cure. He was already 21 months old, which is quite old to have a transplant, and the geneticist really wanted him to be transplanted before two years old. So we had three months of running around to all these appointments because his doctor wanted to have a baseline for everything in his body to help ensure that the transplant would [have a good outcome]. Personally, I didn’t have much time to really think about what was going on because every day we were at the hospital.

But when you start Googling the disease, and you see what’s written about the disease, it’s quite frightening — that it’s degenerative, and it’s irreversible.

What was the process of getting ready for the transplant?

Ours was different because although Alex Oliver was supposed to have one transplant, he had some issues [and ended up needing three].

For the first week before the transplant, he needed chemotherapy, and it wasn’t long he started feeling unwell. He wasn’t sleeping well, and he had nausea so he wasn’t eating much. He was still wearing diapers. The chemotherapy was so toxic that they had to put [a catheter in] for urine, otherwise if it stayed in his diaper, it would have burned his skin. That was also frightening. And then they had to put him on a feeding tube because sometimes chemotherapy causes kids to lose their appetite — so that was new for us and stressful for him to have something put into his nose without really understanding what was going on.

And then he had the first stem cell transplant. It’s quite surprising because you imagine something really major, but it’s simply a bag of stem cells that looks like a normal bag of blood. Once the stem cells were given through IV, we waited for the magic to happen (for the transplanted stem cells to start making new blood cells).

The first transplant did not succeed, neither did the second one.  The doctors made a decision to do a third transplant and, since they didn’t have the time to search for another donor, they told us that if we wanted to go through with a third transplant one of us — one of the parents — would have to be the stem cell donor. We decided that I would give Alex Oliver my stem cells. So, once again, a week of chemotherapy and then the third transplant. The doctors told us he would probably not make it since his body was shutting down. But eventually, the stem cells were engrafted.

In between [the transplants] he had many complications. We discovered that he had appendicitis. He never complained about the pain, but when they did a CT scan on his gut to check something, they realized that his appendix had ruptured. We decided to remove it right away, even though it was it was dangerous for him to be put to sleep, especially because his white blood cells were low (which help fight infection).

There were so many things that went wrong. He had water in his lungs. Then, the first time we went to the ICU he had a CPAP mask on his face for too long, and it caused a pressure sore behind his head. He had infections on his knee and between his toes that were so bad — his body couldn’t defend himself — that there was a hole between his toes that was hard to heal. He stopped eating. And then there was a period when he threw up pretty much every day. We’ve been through a lot.

How did you cope?

It’s hard. You cannot really blame the doctors, the team that we had in genetics and oncology, they were the best doctors that we could have had. In fact, five years before they saw Alex Oliver, there had been another child with hurler who had a bone marrow transplant with that team of doctors and everything had gone well. After the first transplant didn’t work, we could see that [the oncologist] was devastated. We weren’t mad at him, but he was mad at himself. After the second transplant failed, he couldn’t even look at us anymore. He did the best that he could.

I would say, for my part, you don’t really have time to cope because you’re always making sure everything is OK. There are so many things that you need to look after. Usually one of us would stay at a hospital and the other one would go home to sleep. Even when it was my turn to go home, I couldn’t not think about it. I was always thinking about a possible solution.

There are some days that I’m still frustrated — I’m frustrated that everybody did their best, but still, things happened the way they did. Alex Oliver spent way too long at the hospital during a crucial time in his development — he was there between the age of two and almost three, so he lost a lot of precious time.

I think he’s stable now. But there are a lot of things that he can’t do. For example, with COVID, he hasn’t been to school, so for him, it’s hard to always be here with me at home. You can see that he is anxious to go back to school because he likes seeing new people. I don’t think he’s mad, but we can’t really communicate with him because he has an intellectual disability. He’s seven years old, but mentally, he’s between one and two. So, I can’t ask him, Are you happy today? We don’t really know, but I think generally speaking, he’s OK. But we can’t wait to give him some kind of a normal life.

Alex Oliver had the genetic disease birth, but it was only discovered when he was around 21 months old. SUPPLIED

What is a day in the life like for your family?

Well, with COVID, we’re pretty much always home. School is done virtually by a teacher, but I must always be with him because it’s not interesting for him and he doesn’t want to learn. I have to be with him to control the computer and to make sure that he listens.

A normal day is waking up at wee hours. This morning, we woke up at five o’clock. Then we eat and I get him ready for school. Then comes lunch, he takes a nap, and in the afternoon, we usually do homework. Next is dinner, his bedtime routine and then sleep.

I cannot leave him unattended for too long. I’m always really close, for example, right now he’s watching YouTube on my bed. I couldn’t go into another room because he could just fall [off] the bed since he doesn’t recognize danger. There must always be a parent with him when he’s awake. When he’s asleep, he has a special bed that is literally kind of a cage to make sure that he cannot [get] out of it and wander in the house, and possibly fall down stairs.

He also throws tantrums that are really hard to control — you never know when they are going to happen. I don’t always know how my day is going to be because he can be in a really good mood, or he can be in a really bad mood. Sometimes, he will hug me and then while [I’m hugging him,] he might slap me in the face or bite me.

What do you like to do together as a family?

We take walks outside as a family. We also eat together. I’m with Alex Oliver all day while his dad is working in the basement and then when he joins us, I do things around the house or relax and take a nap to be ready to take care of Alex Oliver again in the evening.

I have always been a workaholic, so it was quite hard when I realized that I couldn’t work. I tried going back to work after my maternity leave, but I just couldn’t handle  work and Alex Oliver — and he wasn’t even diagnosed yet. Eventually, I had to choose between my job and taking care of Alex Oliver.

I wanted to have a child, so I couldn’t imagine myself not taking care of him. And I am taking care of him the best that I can. Hopefully he’s happy. I just do the best that I can and at least if he can have fun every day and be happy, that’s all that matters.

Readers interested in learning more about the various forms of MPS can check out the Canadian MPS Society.

Emma Jones is a multimedia editor with Healthing. You can reach her at emjones@postmedia.com or on Instagram and Twitter @jonesyjourn.


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