Double Zebra
Nail patella syndrome is a genetic condition that effects the nails, knees (patellae), elbows and pelvis. The patellae (knee caps) are often very small or sometimes absent; the nails may absent or underdeveloped; there is often bony deformity of the elbows leading to functional difficulties; and the pelvis bones can have abnormal growths.
The amazing Deeann, is a double zebra - she has nail patella syndrome AND hypermobility spectrum disorder! She may not have won the genetic lottery, but she sure made up for it in the talent, academic and personality departments.
She’s one awesome double zebra who jumped at the chance to be interviewed for Rare Disease Day 2021.
How old were you when you were diagnosed with Nail Patella Syndrome (NPS)?
3 years old
How old were you when you were diagnosed with Hypermobility Spectrum Disorder (HSD)?
23 years old
Which is more challenging to navigate, NPS or HSD?
NPS due to how rare it is and limited support groups. Proper research hasn’t been conducted for nearly 20 years!
Have doctors heard of NPS when you meet them the first time?
Very rarely. My orthopaedic knee surgeon was aware as he completed his fellowship at Shriners and had operated on a number of NPS patients, but apart from him, only genetics teams knew of the condition.
Tell us about your studies....
Studying is one of my greatest joys in life. I’ve started and changed to so many courses, but as of 2019, I completed a Bachelor of Science (Cognitive and Brain Sciences) from Macquarie University and a Bachelor of Creative Arts (Music) from the University of Wollongong. I also have two advanced diplomas from UNE.
Studying was tricky, and apart from my BCA, I completed most of the rest online or completed intensive sessions. This allowed me to have a good balance in life, working as a music teacher at the same time and going to medical appointments. I want to study more, but I am totally stuck on what my next move should be!
Tell us about your life - do you live independently? Are you working? What has enabled this to be possible?
I moved 2 hours away from my parents in January 2020 to live by myself. Within a year I’ve already had two jobs, and I’m just settling into my role now as an NDIS Local Area Coordinator. I work full time, however my work is extremely accomodating. I’m able to have surgery or go for appointments when need be. I was also supplied a chair and adjustable desk to help me stay comfortable at work.
Additionally, I was accepted onto the NDIS in 2019 with the help of physiotherapists, and my OT! This has been the most fundamental change to my ability to work and live independently. I receive supports so that I can get help with personal and domestic care with things I am unable to do, allied health to build my capacity and strength, and assistive technology so I can roll through life (on my wheelchair, Lola). Without this, I wouldn’t be able to live independently, work full time, attend my appointments or participate in extracurricular activities such as music, girl guides, wheelchair sports and sign language class (which I am just starting)!
What’s your greatest physical challenge in day to day life?
Walking is always the tough one! I have a daily goal to undertake 1000 steps, but this really isn’t much. I usually complete the goal just walking around my small apartment and at the physio. When walking I need to take a lot of care not to trip and walk on safe, flat ground. My ankles and knees aren’t stable enough to walk on uneven surfaces and my back usually gives in before I can walk more than a minute. Thankfully, I have my wheelchair Lola to roll through life when walking is tough!
What motivates you to get out of bed in the morning?
I just love life and want to pack as much into it as possible. What motivates me in my job and volunteer work is helping people, in my own personal endeavours it’s learning and being the best version of myself I can be.
What are your go-to self-care activities?
Definitely a soak in my bath! I have a bath lift which means I can safely lower and raise myself in the bath. I use Epsom salts, custom blends of essential oils, bath bombs and bubble bath. To top it off I usually have a candle, face mask and Netflix playing.
How do you get through bad days?
Lately I’ve been just saying to myself “just see if you can get through what you need to do in the next 15 minutes”. Usually I do way more than I expect and I’m a workaholic so it snowballs.
What’s the hardest part of living with a rare disorder?
The lack of knowledge and information. When I ask doctors if a co-morbidity is linked, or if a symptom is related, they simply don’t know. They also don’t have enough funding for major research as there aren’t enough people suffering from the disease to gain attention. I’m so grateful to Rare Disease Day for raising awareness or these rare and more obscure conditions!
What’s one thing you would say to someone who has just been diagnosed with a rare condition?
Find good specialists, connect with people e.g find Facebook groups, ask questions and keep going!
What does the zebra symbolise for you?
The Zebra symbolises so many things. Firstly the meaning behind the phrase “when you hear hoof beats, think of horses not zebras” which is taught to medical professionals, emphasises that even the medical industry can lack knowledge and a desire to help people with rare diseases. It’s also something that draws us all together and creates a community of very different people but with some of the same difficulties. It’s also very fitting for someone with a connective tissue disorder, our predisposition to stretch marks literally resemble zebras stripes!
Anything else you want to add?
My favourite quote is
“life isn’t about how you survive in the thunderstorm, it’s learning to dance in the rain”.
It is possible to enjoy life and live to your fullest potential with a disability or rare disease.