alkaptonuria: what it feels like
carolyn was just a baby when her family noticed her diapers were turning red. she was soon diagnosed with alkaptonuria
10 minute read
carolyn was diagnosed with aku as an infant, but says that she didn't really start for feel symptoms until her late teens.
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carolyn boote was just a baby when her family noticed her diapers were turning red. she was soon diagnosed with alkaptonuria (aku), a rare, progressive disorder in which the patient’s body does not produce enough of an enzyme required to break down homogentisic acid.
thought to only occur in an estimated one in 250,000 to 1,000,000 people, the accumulation of this acid in joints and connective tissue eventually leads to chronic joint pain in adulthood and arthritis, according to the national organization for rare disorders (nord). this often affects the spine, where discs between the vertebrae begin to calcify and may even fuse.
patients may also develop ochronosis, in which connective and other tissues will appear bluish-black. affected individuals experience this differently, and may develop discolouration in their joints, ears, or the whites of the eyes.
healthing.ca spoke to carolyn, now a wife and mom of two, about life with this rare disorder and her hopes for the future.
what was the first clue you had aku?
we find out by chance. my parents had taken me to a pediatrician and just before they left, my aunt [who was there] mentioned that my diapers were turning red — because aku turns your urine to a dark colour, like ochre. it turned out that the doctor had just learned about aku and sent me to dr. charles scriver — who specializes in genetic disorders in children — and he made the diagnosis.
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i was lucky it worked out because a lot of people don’t know they have aku until they’re in surgery and the doctor finds black brittle bones or darkened tissues.
what was it like growing up with a rare disease?
aku seemed like a non-issue. there was little research happening and i was healthy and athletic, so it wasn’t on the forefront of my mind. at 16, i was told by a rheumatologist to quit skiing and think about a desk job career. but because i felt well, i continued to live my life as i did. i don’t think i understood what my future would be like, and at that age, i laughed it off and thought, ‘i’ll deal with it when the time comes.’
in my late teens, i occasionally had questions and at times felt quite alone. i didn’t know anyone else with aku. only when i started to have back problems in my twenties, did i start wanting more information. thanks to the internet, i found answers and eventually connected with other aku patients. sometimes, the information i found was upsetting and i was encouraged not to search, but i still wanted answers.
in 2007, i was living in north wales and i just happened to find the aku society, which was located in liverpool — a short train ride away. i met with one of the founders, robert gregory, and dr. lakshminarayan ranganath, an expert in aku. from there i was able to meet a handful of others with aku. since then, my network of patients with aku, and the professionals involved, has expanded substantially with contacts from around the world. everyone, patients and professionals, are supportive and welcoming to questions. i feel truly lucky to have been in the right place at the right time.
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aku can be painful.
i certainly didn’t expect it to be as bad as it is.
i have a lot of pain. i have advanced degenerative disc disease [in my spine]. i’ve also got stenosis of the spine i’ve had for probably more than a decade. what didn’t help me was at 17 i injured my back so i have already had surgery on my lumbar spine. right now, the way my vertebrae are, a couple of them basically don’t have any disk left, so it’s bone on bone.
i also get a lot of sciatica as a result and excruciating restless leg syndrome. my hip also bothers me sometimes — i just had an injection in my hip to decrease the swelling. there are times where i can’t walk down the stairs because it’s just too painful, or days where i’m stuck in bed.
i have to be very careful how much i lift, and how i move.
there is no balance for me living with aku, so one of my goals is to improve that. being a mom and a wife with a rare disease means my energy goes to my kids and the house. that doesn’t always leave room for self-care or energy to socialize. i sometimes worry that i have to get things in now, like travelling, because this disease creates a lot of uncertainty about my future. i try not to think about that sometimes.
how do you live with pain every day?
it’s really hard because i used to be so athletic and active. i was active until i was 30 and then, all of a sudden, you see these things from your life disappear. it’s almost like watching part of yourself disappear. you have to reinvent yourself.
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i feel guilty because of my young kids. sometimes, i feel like a burden if i’m in a rough period. i had to learn to ask for help, or to accept help because i was fiercely independent. you have to let go what you thought your life would be and adapt to it.
i’ve tried all kinds of things and for the pain in the spine, cbd oil is the only thing that works for me. a lot of days i have to adjust how much i can do. i need to rest more and keep activities light. i also have a massager that heats up and is like my lifesaver — i use it every day.
often, by dinnertime i’m in a lot of pain so i will start dinner and my husband will finish it for me. also, a friend is now cooking some meals for me so i can just pull something out of the freezer or just keep it simple. i always need to think about having something in the freezer or the cupboard that is quick and easy. it is hard for [my husband]. but we try and work as a team — he’s very, very supportive. i know it’s hard sometimes when he has a lot going on or he’s tired.
every day is so different, and i can’t make a commitment to work or volunteering because i never know what kind of day i’m going to have. that’s a bit frustrating and it’s been hard because i’ve lost out on some activities with friends or family. i used to be very social, but it’s hard to maintain friendships at times.
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i don’t like to think of the future too much sometimes. things can change because [aku] is degenerative. you just do it. one of my friends who also has aku says, “keep on keepin’ on.” and that’s basically what you do.
how important is support?
outside of my family, i have no support on a regular basis. that can easily bring about challenges and exhaustion. i am extremely grateful for all that my family does to help us out.
but i need more support in the home. if i do a day of gardening, it takes a day or two sometimes to bounce back. i’m tired, i could be achy. when i’m stuck in bed all day, my husband is working full time, but he also has to help me and look after the children.
my parents often help by taking the kids school or cooking meals, but i [will need] to have somebody come in and support me. everyone i’ve approached in the health system [to find out about getting extra help], they say, “sorry, you’re not 65 so you’re limited as to what you can receive. you don’t need full time home care. we can’t help you.”
how has connecting with the global aku community impacted you?
i started to educate myself as much as i could about aku because i had to. i had to be my own advocate. i was lucky to have learned about the aku society in 2007. it has been a great resource for me and continue to be a great advocate for finding a treatment and a cure. i travel to liverpool about once every two years to attend their national aku conference so that my information is current and i learn how to better care for myself. there were only a handful of us back then, but thanks to the internet and the society’s advocacy, the community is growing.
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we’re like a big family. i see old friends and make new ones. it’s really nice — a way to learn from each other and trade tips.
[you need to] grieve [your old life] when you have a progressive disease. we get that support from the aku facebook page. we’re very supportive of each other, because only a few people are walking in our shoes. there’s definitely a lot of positives that have come out of it for sure. you get really good at adapting. you learn to be better at saying no or asking for help.
some of the common symptoms of aku are dark spots on the whites of the eyes and skin discolouration. have you experienced this?
my ears turned blue years ago — i used to have to wear a hat on windy days because it was so painful. but now i take two milligrams of nitisinone every day which decreases the amount of hga in your body. i started taking it in march 2017 and my kidneys now function better and i have decreased sinosis (the bluing pigments). i just feel better. i don’t feel as achy.
my eyes aren’t too bad. for some people, it’s very noticeable. but we all have different joints affected at different times.
drugs for rare diseases are sometimes hard to access. has getting nitisinone been a challenge?
i had gaps in receiving it because of its availability, but currently i have funding from the provincial government.
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every year we have to re-apply for funding for my medication. that’s stressful. people with rare diseases have enough stress. last year, if i didn’t receive medical information from the aku society i likely would not have not gotten the medication. it felt like i had to pull a rabbit out of a hat. i was told everyone was waiting for the results of a new (sonia 2) study to see the efficacy of nitisinone as a treatment for aku.
the sad thing is, it’s not accessible across canada. i know somebody in b.c. [with aku], who pays for it himself. i know somebody on the east coast and he can’t get it. there are a lot of people that aren’t getting it and part of it is because our numbers are few. we’re not a loud voice.
how was it being pregnant with aku?
before my first pregnancy, there was concern about my spine because even 11 to 12 years ago it was considered fragile. i didn’t gain a lot of weight in my first pregnancy, so i had no issues.
i actually became pregnant about six months after i had surgery on my spine. i was told that i wouldn’t be hiking for about nine months, but within six months, i was hiking, i was pregnant, i was doing okay. but then i had the time to focus on me and to take care of myself.
we were constantly adapting. i was looking for the lightest stroller and products that would make my life easier. i learned to do things like get down on the floor with my child if they were upset rather than picking them up.
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being a mom with a rare disease means i have learned how to advocate. i also have a child with autism spectrum disorder which can be challenging. you get creative and you learn to adapt.
do your children understand your diagnosis?
they do, they see it. i think it’s still sometimes hard for them when i missed out on an activity with them. but they’ve learned to be more empathetic. i’ve seen my son be so caring and look out for other children in the playground.
is it hard to explain aku to people?
i don’t think people always understand how one day you can be okay, and the next day, be in a lot of physical pain. they don’t understand that variability of it. sometimes i use a cane and then they know i’m having a rough period. it’s like a visual thing, right?
there needs to be more empathy and understanding for people with invisible diseases. we don’t want pity, we just want understanding. if i can’t make it out today, i’m sorry — it’s not you, it’s me.
more information on aku, how to help, and support for individuals who have been diagnosed can be found at the aku society.
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