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Feb. 4, 2020

TOPIC: Patient Stories, Patients & Members, Rare Disease Day

Zuhriah’s Story in Honor of Rare Disease Day

Posted by Valaree DonFrancesco

This is my story of my own journey as a pyknodysostosis (PKND) patient. It began way back as any other PKNDs, but I started to experience the impact when I was five and broke my clavicle when I fell down from a tree in my front yard. Oh yes, I was as active as any other normal kids back then. Only found out about my disease when I was around eight or nine years old, when I was being referred to genetic specialist by a pediatrician. But unfortunately, we had quite a fleeting time with each other as I had a big exam coming up, and the rest was history I conclude.

I had overall 9 fractures involving clavicles (4), left tibia (3) and left neck of femur (2). Recently was in 2018 which I broke my neck of femur for the second time. Since most of them happened when I was still kid, the recovery process were quite fast. But now that I am 29 years old, age does take its toll. After being diagnosed back then, I was advise to limit my outdoor activities to avoid any unnecessary pressure to the bones. To drink more milk, consume foods with high calcium. No specific medication prescribed for me. While on the treatment for all those incidents, I had only 1. Cast. I have never undergo any surgeries. Unlike some of other PKND patients that I have the chance to interact with, they did go for surgeries. For my case, none of the doctors suggested for surgery since most of the fractures were not that serious until I had my femur broke. It was a proximal fracture, hence there was suggestion for surgery. But in the same time, I learnt from the orthopedist that there will be a great deal of risk if I were to opt for operation. So, long story short, I opted for normal recovery via cast which also carries its own risk but less frightening I would say. The recent incident which I broke my femur was and still is the hardest odyssey I had of all my fractures experience. It is quite fair to say that I am not the same person as I was before physically, emotionally and mentally. Bedridden for 7 months and tons of hospital follow ups. It was really hard but I have no regret, and I am very lucky that I had really ‘unimaginable out of space’ support from my close families, friends, cats and this one special orthopedist (specialist). No words could ever describe how grateful I am that I have these people around me till these days.

Now, I am walking with the aide of walking frame and a custom-made shoes (my leg shortened by 10 cms). I have been using this one device called Veinoplus V.I which does make my physiotherapy session easier since I can’t do vigorous activity. It was recommended by my attending specialist (he is the best). I am now although less capable but definitely a happier fella than I was a year before (hey, I can even drive my car again). For sure, I have been better, but I accept what I have now and moving on with it while keeping my hope and faith intact. I have been searching a little information about this disease, where I learnt that some of the PKNDs do have it better (they took special hormone pill when they were kids which resulted successfully in their case). So this is good news! In terms of treatment, I’ve read that for now, there is no absolute method, it differs from one patient to another. But, I really hope that we can have more medical research and discoveries on PKND. Also, it would be good if we can reach out to each other (both patients and doctors all over the world) so that we can have an improved or maybe uniform view on PKND option of treatments.

I shared my story in hope that it will help to improve awareness and also as a way to reach out to the world that I am one of those. I am seeking new hope as well.