Vicky one of our ‘Five Founding Team Members’ has this rare disease and has kindly given me a bit of her experience with it to share as part of our participation in #Dazzle4Rare2020, and also to help raise awareness of this Ultra Rare Disease.

Vicky is a young mum and says that recently during the covid-19 pandemic “it has been an experience and a rollercoaster of highs & lows with a 3 year old.” She has been shielding for a few months so it has been a bit of an experience being stuck at at home with an energetic toddler.

Before reading what Vicky has to say about her experience with PVNS it would be fitting to explain that she also got diagnosed with Ehlers Danlos Syndrome hypermobility type (hEDS). To be told that you have one rare disease is shocking enough, but to be then diagnosed with a condition that is even more rare, termed ‘ultra-rare’, well that really is life changing.

When diagnosed with PVNS it took her on a journey of tests which revealed that she had a tumour, on one her knees, which led to surgery to remove it and not knowing how her life would be affected afterwards. Vicky had pain & swelling in the knee prior to her first surgery and had to see various orthopaedic surgeons, rheumatologists & orthopaedic oncologists at various hospitals. Also with me having Diffuse type PVNS, (more aggressive than localised), there is always a risk it could return.

I remember this time as being quite scary for her and having a such a rare condition there wasn’t any support group for where she could go to for advice from other people with PVNS. It would be really great if we could change that and try to bring together other people that live with this condition.

If I’m totally honest though the PVNS isn’t as problematic for me so much now. I’m thankfully still PVNS free after my surgery 8 years ago. It was the aftermath of that surgery that caused all my issues regarding my mobility & chronic pain symptoms worsening.

I had my Medial Patellofemoral Ligament (MPFL) Reconstruction & Tibial Tubercle Transfer (TTT) surgery in 2018 and that made a huge difference to my life. After having constant dislocations in my knee where the PVNS tumour was removed from 6 years previously had caused major damage. This was worsened with my hEDS which affects all of my joints.

The surgery was extremely painful with my leg in a huge brace for 7 weeks & I was reliant on crutches for 12 weeks. I couldn’t walk much, needed a wheelchair & wasn’t even able to use the loo without someone holding my leg up with the thigh to ankle brace on. I had to learn how to walk all over again & had months of gruelling physiotherapy. I had a serious amount of muscular atrophy & my quad muscle had basically wasted away. You could see my legs were different immediately the muscle wastage was so bad. All of this whilst being a first time mum with a 1 year old baby.

A selection of photographs showing her leg in a brace and from the time of her surgery back in 2018

This was not an easy time.

All of this had a detrimental effect on my mental health and my ongoing post natal depression I had suffered since my daughters difficult birth in 2017. Unfortunately the MPFL didn’t totally correct all of my problems but a further knee operation in 2019 to clear away scar tissue did improve things. So here I am now, post shielding during lockdown in 2020.

It has taken 2 years of slow recovery, endless physio sessions & lots of ice packs and pain meds but I’m doing so much better now than prior to my first surgery in 2012.

I can actually walk much better now & manage to keep up with my super active 3 year old. I did a 2 mile hike today and my health, mental health, fitness & well-being is better for it. I would be lying if I said some days aren’t hard or that the pain is gone but I know that will pass and tomorrow is another day.

A wonderful positive note to end her story with and we hope that others who associate, and empathise, can mirror that same positive approach.

A collection of disease information resources, and questions answered, by our Genetic and Rare Diseases Information Specialists for Pigmented Villonodular Synovitis can be found below.

Below is the link to where you can find out about Pigmented villonodular synovitis and what it is. How it affects the body and the type of condition that it is. What to expect if you’re diagnosed with it.

Source: Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Pigmented villonodular synovitis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Genetic and Rare Diseases Information Center (GARD) – PO Box 8126, Gaithersburg, MD 20898-8126 – Toll-free: 1-888-205-2311

https://rarediseases.info.nih.gov/

National Center for Advancing Translational Sciences | National Institutes of Health

https://ncats.nih.gov/