Alkaptonuria (AKU) community

Alkaptonuria (AKU) is a rare autosomal recessive disease, affecting tyrosine metabolism. Patients accumulate homogentisic acid at 2000 times the normal rate, resulting in cartilage degradation and symptoms similar to early-onset osteoarthritis.

Doctors hardly ever want to help.

Written by manuela, published 5 days ago.

Hello, I am from Spain, and I was diagnosed with the disease when I was born, when I went to the bathroom, and after several month when I got black earwax in my ears.

There are 7 children in my family and only 3 of us are suffering from this disease. I am the oldest, at present I am 41 years old, and I believe that I have lived all my life with problems, especially since I turned 25 years old, and I had my first child.

After that, at the age of 35, I had my second child, and everything started to change. I started having a lot of back pain, especially on my lumbar vertebrae, my knees, my ankles, my wrists, etc.

Everyday I get up feeling a different pain (some doctors say that it could be fibromyalgia). After that, my rheumatologist sent me to have many tests performed, xray exams, gamma tests, magnetic resonance, ct scans, etc., and then sent me to an internal medicine doctor who was the first to speak about this disease.

He has two more patients suffering from it. He always tells me that I should get some physical exercise, and put heat on the area, and when I am suffering from an arthritis pain he orders corticosteroids. A little while ago he mentioned a new treatment to me. It is called Orfadin (Nitisinone), but I believe it is worse than the disease, due to the side effects it causes.

Well, kind regards and patience.

Written by manuela, published 5 days ago.

Patient groups

  • AKU Society UK

  • Alcaptonurie France

  • findAKUre

Alkaptonuria (AKU) Recent Activity

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    Husband feels for wife who has AKU........
    topic, published about 7 hours ago

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    I have wore the shoe's of the patient since 1996. I never realized that my husband suffered from the affects of AKU as well. One day my husband spoke up that we both have to deal with this disease. He told me how helpless he felt watching me suffer in pain. He replied, it is so frustrating not to...

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    AKU: The first known metabolic disease, but still so unknown today...
    topic, published about 16 hours ago

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    Good morning everybody, my name is Barbara and I am 40 years old, and of course I have AKU.

    What upsets me, is that nobody is giving AKU the importance it needs. Only last month I got the exemption from paying for my drugs due to rare disease, and my problems seemed not to interest anyone... H...

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    Family Ignorance
    topic, published about 16 hours ago

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    Hi eveyrone, I am having a difficult time with my daughters or any other family members having any willingness to understand AKU. My daughters remember the times that I could find no help which was extremely frustrating for all of us, the trying to find help, understanding, pain relief and exhaus...

  • -

    Family Ignorance
    topic, published about 16 hours ago

    show transcript

    Hi eveyrone, I am having a difficult time with my daughters or any other family members having any willingness to understand AKU. My daughters remember the times that I could find no help which was extremely frustrating for all of us, the trying to find help, understanding, pain relief and exhaus...

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    In response to Maneula's experience
    topic, published 5 days ago

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    Hi Maneula, welcome to the AKU Community here. Unfortunately, your story seems very similar to most AKU patients - nearly everyone seems to struggle with getting a correct diagnosis and even when they are diagnosed, get little information on how to live with AKU. Hopefully this site will change t...

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    Nitisinone
    topic, published 6 days ago

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    The AKU Society believes that Nitisinone is the best potential treatment for AKU. Our science teams have good evidence that it can treat the disease and we know of a couple of patients taking the drug that report less pain. At the moment, it is unlicensed for AKU, but in the UK, a patient can sti...

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    Rare Disease Day
    topic, published 8 days ago

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    Hi,
    Hope you have an enjoyable Rare Disease Day.

    Live streaming of the Brussels Rare Disease Day event Monday from 9am-5pm CET. The theme is "Rare but equal" - EU Policy makers and patients confront the inequalities faced by Rare Disease patients and caregivers

    www.livestream.com/eurordis

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    Share your story...
    topic, published 13 days ago

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    We are calling on patients who wish to share their story of diagnosis and living with AKU to come forward and share your story. It can be in complete anonymity but it will go a long way towards helping others come forward and discuss with their doctor and maybe realize that what they've been livi...

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    How can we help?
    topic, published 15 days ago

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    The AKU Society in the UK, ALCAP in France, AIMAKU in Italy, and the upcoming AKU Society North America are all here to help patients with AKU. This site should help you share stories and methods of living with AKU.

    What else would you like to see? What do you think the support groups should ...

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    Bicarbonate
    topic, published 15 days ago

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    Does anyone take Bicarbonate ( or Sodium Bicarbonate) to help with AKU? We do not know if it will have any effect on AKU, but a team at Liverpool University are doing work to see if it does. They would like to talk to any patients that have been taking Bicarbonate (eg one patient was prescribed i...