February 29 only comes around every four years – and this year, it’s extra special: Today marks the 9th annual Rare Disease Day. In the United States, a disease is considered rare if it affects less than 200,000 people at any given time.1
This year’s theme is all about elevating the patient voice, so we caught up with member Ann (annpkerrigan) to learn more about what it’s like to live with alkaptonuria (AKU), a rare disease that affects 159 PatientsLikeMe members. Here’s what she had to say…
How would you describe AKU to someone who has never heard of it?
I suffer from AKU, which is a rare genetic disease with no cure or treatment but not fatal. This is what I was told six years ago when diagnosed after many years attempting to identify my condition. AKU is a metabolic disease, which causes severe early-onset osteoarthritis. It can be a painful and degenerative disease.
Over the years, I’ve learned to adapt and make changes to my home. I live alone and it’s crucial I can manage everything. Prior to diagnosis my knees were very painful so I moved to a ground floor apartment in Bristol to be closer to work and because using stairs became impossible. My GP referred an occupational therapist to assess my home and she provided equipment to help, like a sock aid and a long-handled comb. She also authorized the council to install a wet room, which provided safety and independence. When my shoulders deteriorated it became painful to change gears when driving so I was able to get an automatic car through the Motability scheme in the UK.
How has your life changed since your diagnosis?
A major problem was washing my hair because I was unable to hold my arms up for any length of time, so I’ve been going to a hairdresser weekly for years. I’ve also lost three inches in height because my spine’s compressed. I’m only five feet now, so I’ve had shelves lowered in my flat and I’m currently saving to adapt my kitchen.
As for work and social life, everything’s changed. I haven’t worked since diagnosis, which coincided with redundancy because of my disease escalating. I contacted The AKU Society in February 2010 and was invited for three days to undergo tests to aid research and to help me. The trip was wonderful because I met experts who understood my disease and I no longer felt isolated. The tests revealed a lesion on my chest and I was referred for a CT scan, which identified a 9cm tumor tucked underneath my breast bone – beside my lungs and heart – which had to be removed. I wasn’t symptomatic and it was thanks to Liverpool this was identified!
The main problem I face is financial. Having left work at 50 I’ve lost a good income and standard of living. I’ve also spent my redundancy on emergencies like a new washing machine, refrigerator and to supplement my income, and have lost 15 years of pension contributions. However, the worst part is knowing there’s no cure, and trying to come to terms with it.
However, the AKU Society’s been brilliant, as has peer support, and I’ve been surgery-free for more than two years. But moving forward, I’m having a right hip replacement in March and carpal tunnel surgery in May. My social life is very different now because there are activities I can’t participate in, and although I’ve always loved to travel this is also difficult now. Essentially, my life has completely changed and while I try to remain positive and independent I sometimes suffer from depression.
What changes do you think need to happen in society to raise awareness about rare diseases like AKU?
AKU is largely an invisible disability – patients look perfectly normal on the outside. I have a blue badge for parking because I need the extra space to get my legs out of the car, and because I have a problem walking, but I’ve been shouted at for parking in a disabled space because I don’t fit the stereotype. So I’d like to see a campaign to highlight the difficulties of invisible disabilities. The government hasn’t helped either because they’ve targeted vulnerable groups in society and labeled the disabled as fraudsters. Families of AKU patients need support, too, and could help each other if a group was established or a forum available.
How can healthcare become more compassionate towards patients with rare diseases?
I’d like to see every newly diagnosed patient given counseling and have an AKU buddy for peer support.
Rare diseases like AKU are known as orphan diseases because they affect a small percentage of the population. As a result, they lack funding and largely remain unknown to government, medical practitioners and the general public. I would love to see a campaign to educate government, medical practitioners and the general public about invisible disabilities and rare diseases. I’ve been involved in teaching third year medical students for the last three years so that they’ll know how to identity AKU earlier and to think outside the box! Medical practitioners need to listen to their patients and if a patient reports something that doesn’t easily fit a diagnosis, this could be the red flag pointing to a rare condition.
I think patients will start to receive better care once doctors listen and respond quickly, which will come about through teaching, improved resources, funding and changing the mind sets of the public and government. I’d also like to see more partnerships between patients with rare diseases, medical practitioners and government because we are the ones that know what is required to give us the care we deserve. Therefore, we need to educate and inform all the key stakeholders so that they too will become advocates.
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