Alkaptonuria- A patient experience

A video about the importance of diagnosis for alkaptonuria (AKU) patients. This video was created for the use in an e learning module on the Royal College of General Practitioners (RCGP) website. To learn more, please head to the module here: www.elearning.rcgp.org.uk/aku

[@jessicabarnes4957]

As a mother of a little boy with Alkaptonuria I'm really pleased that this e learning module has been created. It took us over a year of visits with our GP and pediatrician to get a diagnosis.

[@EllenCPickle]

Thank you for this video. I was finally diagnosed with this by accident when I was doing a 24 hour urine test. I had a kidney stone at the time and uti and was put in the hospital in the middle of my home test. When I returned home 3 days later after surgery to remove stone, the urine was black. I had about 30 stones up to that point and a total him replacement by the age of 42 and no one could figure out many other condition I have. Theres not alot drs can do about the condition as I understand, but it does give me answers to why my joints are breaking down and have DJD as such a young age. Its starting to get worse as my shoulder joints along with my knee joints were torn this year and required surgery. Now I am passing several stone and have an obstruction. I have now been diagnosed disabled from having gout, osteoarthritis and rheumatoid arthritis…When I saw Anne in the video waling down the stairs sideways I was so grateful as ive been doing this for years and everyone makes fun me...This video helps me understand more about my condition as most drs know nothing about it. Im sad and happy to say its very comforting that I am not the only one.

[@sammmysam1291]

Nice video. Thanks for sharing

[@AKUSUXs]

I have AKU. I diagnosed myself in 2007 after L5-S1 fusion.

[@EllenCPickle]

same, finally found a dr to listen to me in 2012….I was born with L4 and L5 fused together with my hip. I am now 53 and have 3 forms of arthritis , and have had a total hip replacement , knee replacement and shoulder replacement. Most Drs know very little about this condition!

[@user-kd9rk5qu4x]

لدي طفل مصاب بهذا المرض يبلغ من العمر ٢ سنة
هل يوجد علاج لهذا المرض
لا أجيد اللغة الإسبانية أتمنى أن تتناقشو عن هذا المرض باللغة العربية 😔

[@mariaaemilius651]

Vivo en URUGUY Y tengo alcaptonuria me agradaria saber que dicen porque no lo traducen en ESPAÑOL pues esuna lucha nadie sabe de estaenfermedad grs

[@patriciaparraparra8533]

Hola mi esposo tiene alkaptonuria se lo descubrieron asé 3 años el es joven tiene 57 años y aqui en chile no se sabe nada de esa enfermedad, miro todos los vídeo pero todos en inglés nada en español ni para traducción,v agradecería si fuera traducido a español gracias

[@sushmahegde4308]

Any medication is there plz refer

[@AKUSUXs]

Orfadin or generic name nitistinone.

[@mariaaemilius651]

No entgiendo porque no ponen leyendas en español?

[@kubes2504]

Já ji mam

[@cooperanderson9097]

don't mind me, keep scrolling

[@isabellabischer68]

Rosy you look so sad

[@kubes2504]

Já ji mam