My health experience: ‘Every day I can get up out of bed and walk and behave normally is a blessing’

I was born with a cleft palate, a split uvula and was a very “floppy” baby. I’m still “floppy” today. I’ve no core strength, but as an adult I can manage it better. My mum had awful trouble feeding me. I had surgery on my cleft palate at 18 months but the surgeon said that it wasn’t the reason for my low appetite.

Tests were carried out in Crumlin hospital and they discovered that I had a diaphragmatic hernia, all of my organs were on the wrong side of my body.

My parents didn’t know what was going on. It was the 1980s. There were no support groups and no genetic testing.

Growing up I was told I had congenital muscle myopathy – weak muscles. Imagine explaining that to someone in the playground. It was really making me stand out from everyone else because I was “different”. And I hate using that word, but that’s the way I felt.

I had my chest flattened as a teenager because I had pectus carinatum, a chest that protruded out. It’s called a pigeon chest, and mine was very severe.

They also tried to fix my shockingly flat feet and my crooked big toes, but that wasn’t a success unfortunately.

At one stage Marfan syndrome, which affects the body’s connective tissue, had been mentioned. I have a lot of the physical attributes, the long fingers, flat feet, a long narrow face, overcrowding of the teeth, pecuts and scoliosis.

All of these are common with Marfan syndrome. But with Marfan, your arm span is greater than your height and I didn’t have that. I also didn’t have any heart problems, which would be another symptom.

Diagnosis

However, in 2001 I had an echo cardiogram and that showed up an enlarged aortic root. The cardiologist immediately diagnosed Marfan.

But I just got on with life and had regular echoes. I worked and went to Australia, New Zealand and South Africa.

Then in 2008 I went to a Marfan conference in Boston.

While I was there I found out that I had Loeys-Dietz syndrome, which was discovered only in 2005. It’s a multi-spectrum, genetic disorder of the body’s connective tissue. It has some features in common with Marfan syndrome, but it also has some important differences.

With Marfan, your aortic dilation can be up to 5cm before you need surgery. With Loeys-Dietz Syndrome, it’s 4cm. Mine was 4.1cm. They told me I needed to get home and have surgery straight away.

Genetic testing later proved for definite that I had Loeys-Dietz Syndrome. When the results came back I remember walking with a spring in my step and a smile on my face. Finally all the pieces of the jigsaw that had never quite fitted together for so many years, just clicked.

I had the aortic surgery and four months later I went for a review with Prof Mark Redmond, who is fantastic and looks after all of my care. I had a cyst in my abdomen. He asked if I had any urinary retention problems, which I hadn’t, but six weeks later I had to go to the emergency department.

They drained two litres of liquid from me. They put in a catheter, which came out nine weeks later and from that day to now I’ve managed without it. But I always need to be near a toilet, even if have only a slight bit of liquid, otherwise I get a pain which could land me in real trouble. This cyst started off at 11cm, it’s now 18cm and my bladder is completely squashed.

I also began to experience severe headaches which was in part due to my cerebral spinal fluid, which protects the brain and spine. Mine is not as strong as it should be because I’ve got a connective tissue disorder. That, combined with stress, can bring on the headaches. I need to stay de-stressed and drink fluids to keep the headaches at bay, but I also need to have access to a toilet all the time. Between everything, I had to give up my job as a property manager in Dublin, something I had really loved. I moved home and I’m fortunate to have such great parents and to be able to live with them.

I always have pain but I don’t take medication for it, I just manage it. My back always feels weak. I’m on heart medication for the rest of my life.

Intense pain

Every year I have an MRI and echo cardiogram done. I have a hernia that I’m going to have repaired next year and I have an aneurysm in around my kidneys that they have to keep an eye on too. My hip started hurting a few months ago and I could barely walk for three to four weeks. It was a really intense pain, for no reason. The orthopaedic surgeon said nothing could be done.

That’s what I often hear, “Oh, it’s just you, it’s just the way you are.” That’s so disheartening.

I always hope that someday I will get back to work, but my problem is that I’m not reliable. A cold wipes me out. A pain wipes me out. My life isn’t the way I want it to be, it’s taken a different turn. But there are a lot of positives in it. Music keeps me going. I’m very involved with the local adult and kids’ choir and I’ve made a lot of friends through that.

I’ve taken music exams, things I wouldn’t have done otherwise. I’m also involved with the Marfan syndrome support group, raising awareness of that and of Loeys-Dietz Syndrome.

I don’t know what my body wants from one day to the next, but every day that I can get up out of bed and walk and behave normally is a blessing.”

[ marfan.ie ]