Living with PKAN in Italy

How I found out that I had PKAN, Pantothenate Kinase-Associated Neurodegeneration, and how I'm coping

Written by carladidio, published 24 days ago.

Hello everyone, my name is Carla, I was born and I live in Milan and I was diagnosed with NBIA, specifically PKAN. The first symptoms began at age 6, I started limping with one foot. I could no longer hold various objects in my hand. At 9 years old, I had an operation on my foot, stretching the Achilles tendon, after the operation I could walk normally again, but I had difficulty speaking clearly.

At 17 years old I started worsening: I struggled to hold my neck straight, I tended to lean to the right, my hands began to close into a fist and I couldn't open them without effort, I started to have dystonia and rigidity in my neck, hands and arms, it was hard to eat and drink.

At 18, I had a Baclofen pump implanted under my abdomen and a catheter behind my back, I could not close my lips but overall I was a little more relaxed and was not that rigid.

At 20, a neurologist at the Don Gnocchi Hospital, Dr. Cavaretta prescribed Rivotril and Lioresal (Baclofen) tablets.

In 2007, at age 21, I was asked to perform a DNA test to see if it was possible that I had the suspected gene mutation PKAN2, which proved to be correct.

In 2008, at age 22, I decided to have the Baclofen pump removed because it no longer felt helpful.

In 2009, at age 23, I had an operation on my right foot, because the foot tended to bend inward, risking for the bone to pop out of the ankle. After several months of hard work and pain I was able to walk again.

In 2011, at age 25, I started a treatment with diffuse Botulinum toxin, every 3 months and I started having a series of injections in various places: on the left leg, on my arms and many on my neck. Thanks to this I have improved greatly, my neck is straight again, my hands can relax and I could start writing again, the dystonia had subsided almost completely.

In 2012, at age 26, my left foot was also operated on because it starting to bend like the right one. It improved, but anyhow, my walk has signs of club-foot.

Today I continue the treatment with diffuse Botulinum toxin with overall benefit, for some months I have been struggling to speak and my tongue, because of dystonia, rubs on my teeth.

I thank my Mom and Dad because they've always helped me and have been close to me.

I like to use the computer, I learned to use it several years ago, and I’m good at doing graphics work, I follow various singers, both famous and not, for my passion of Neapolitan music.

Written by carladidio, published 24 days ago.

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Living with NBIA in Italy