“I do not want your pity. I just want understanding.” An interview with alkaptonuria patient and PatientsLikeMe member Carolyn

Do you know what alkaptonuria (AKU) is? If you don’t, you’re not alone. AKU is a rare but devastating condition that causes severe, early onset osteoarthritis. It also causes cardiovascular problems, such as heart disease, kidney, bladder and prostate stones and other serious health complications.

AKU is so rare that it’s estimated to only affect about 100 people in the UK[1]. To help shine a spotlight and raise awareness, we’re talking with patients who have AKU and want to share their story with the community.

Say hello to Carolyn. She was diagnosed with AKU when she was only two years old. Carolyn recently took some time to talk with us about getting diagnosed, the daily challenges she faces and how connecting with others has affected her life. Check out what she has to share.

Can you tell us when you were diagnosed with AKU and a little bit about the process of finding a diagnosis?

Fortunately, I was diagnosed when I was about 2 years old. It was by chance in a way. My aunt noticed that my nappies were brown and mentioned it to my parents. On a visit to the pediatrician whilst my regular doctor was away and had someone fill in, one of my parents happened to mention the brown nappies just as we were about to leave. It just so happened that that doctor had recently learned about AKU. He knew right away what it could be. I was tested for AKU, as were my parents and other family members. I was then followed by Dr. Charles Scriver in Montreal who is well known for his contributions to inborn errors of metabolism. (I am actually in one of his books!)

On your PatientsLikeMe profile you mention you have a toddler. Can you talk about some of the daily challenges of living with AKU while raising a child?

There were concerns from the beginning of my pregnancy because my spine is fragile. Fortunately, I did extremely well during my pregnancy as I didn’t gain a lot of weight and I think the hormone, relaxin, helped with the prevention of a lot of back and joint pain. I did have to use a cane occasionally and I got a belly support band. While pregnant I researched as much as I could to find out about baby products that would make life easier and save stress on my body. We just tried to problem solve before issues would arise or as needed. My son was premature and very small so he was easy to care for a long time, and as he grew we adapted things, like raised the crib and carried him out to the car, rather than carry him in his car seat. We have always encouraged him to be more independent (ie. on stairs and getting in and out of the truck). When my son was still young, an Occupational Therapist came to the house but she wasn’t sure how to help me.

My son is now 2 ½ and I think my greatest challenge at times is the fatigue. I just try and get enough sleep every night. If my son needs to be lifted and someone is around I ask them to do it. If I have a lot of errands I try to leave my son with my parents and go out on my own. When he needs a hug or comforting I get down on his level rather than picking him up.

I am just entering my second trimester of my second pregnancy, so the past 2 months have been challenging with morning sickness and fatigue but I have had excellent support from my family. On bad days my parents would take my son to the park or on errands. It helps that he is their only grandchild and they adore him! I also now have some arthritis in the hips and that sometimes flares up but you just get on with it. Now that I am feeling better I am looking into prenatal yoga to help with my body and fatigue.

In some of your forum posts, you talk about getting acupuncture. How does that help you?

In December 2011 I jarred my right hip. There were many times when I could not weight bear, walking was a struggle or at times I simply couldn’t walk. I had a lot of pain. I tried for about 14 months to get it sorted with my Rheumatologist but unfortunately he wasn’t of much help. It was a very frustrating time. On my own I went to a physiotherapist. Success was limited and she said she could only help me so much. I then thought I would try acupuncture. What did I have to lose? Within 3 sessions of acupuncture and cupping the pain was gone and still 6 months later it has not returned. She said the ligaments were “jammed”, not moving as they should and she simply got them moving again. She also helped with my lower back pain and some shoulder pain.

What’s it been like connecting to others with AKU on PatientsLikeMe?

It’s been nice to connect with others on PatientsLikeMe. For years I didn’t know if what I was feeling at times was normal or not, if it was part of AKU. I find everyone is supportive and it is a place to be honest about how you are feeling, positive or negative. I like the forums to ask questions and to share things you may have not considered that may help make life easier or the pain more manageable. And people are always happy to share what works for them.

Many times in our interviews, we ask what someone thinks others who share their condition should know. But I’d like to ask instead, what’s one thing you think everyone who does not have AKU should know?

I found for a long time people, including close family members, didn’t get how bad the pain could be even with medical reports. It took a surgeon saying how bad my back was for my family members to realize that I was not exaggerating. I also try to tell friends that sometimes I can’t attend social functions because it’s a bad day (or time) and please don’t take it personally. For me AKU and the pain tend to come in peaks and valleys. I am not lazy. I have limitations. I am trying to accept them. I try to do as much as I can. Losing some of the independence I once had and valued or not being able to do the things I use to do is a very hard pill to swallow. My husband said because I look normal on the outside he sometimes forgets about my AKU and that I have chronic pain but he is reminded if he sees me limping or stooping. If you have been there for me on rough days you will never know how truly grateful I am. Lastly, I do not want your pity. I just want understanding.
If you’re living with AKU, find others just like you in our growing community on PatientsLikeMe. Learn what they’re doing to manage their condition with symptom and treatment reports, and share your own experience with a personal health profile or in the community forums.

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[1] http://www.akusociety.org/what_is_aku

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