Discutez ensemble avec d'autres malades, leurs familles touchées par Alcaptonurie ou dites-nous juste ce que vous avez sur le cœur.
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robpleticha | Research | il y a 24 jours | Rédigé à l'origine en anglais Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria
From the team in Liverpool, abstract online here:
From Nick, Chairman of the AKU Society:
Dear AKU friends,
We've just finished a study to calculate the average cost of an AKU patient to the National Health Service. The study was carried out pro bono by Michael Craig, one of our volunteers who is a senior analyst at KPMG. As you'll see from the attached presentation, it's an excellent study that provides us with useful data to argue in favour of better coordinated care for AKU patients and access to specialised treatments.
Our conclusion is that the overall costs of AKU patients are tiny when compared to the total budget of the NHS. However, costs per individual AKU patient can be high (up to £100,000 per patient per year in some cases) and could be reduced with consistent access to proper treatment at the right time, which would lead to significant improvements in their health and wellbeing. I expect that similar conclusions would be found elsewhere in the rare disease sector if similar studies were done for other individual rare diseases.
If you have any feedback/comments, please don't hesitate to email them over. Please do keep in mind that the extent of the study was limited by access to resources and information.
All the very best,
Find the study online here:
1234 | Family issues | il y a 2 mois | Rédigé à l'origine en anglais another brother or sister for our son???
I'm from Belgium.
Our 6 year old son has alkaptonuria. We would like to give him and his sister (no AKU) another brother or sister. Is this something we can do?????? Or is this disease so bad that we can't choose for another child if there is a chance that he/she will get AKU as well?? This is so difficult because I have no idea what this disease really means. I don't feel it myself...
Are there members of this community who also have brothers/sisters with AKU. How do they feel?
I would like to hear what you feel about this. Do we have the right to choose for another child? Perhaps this question is answered the best by other AKU patients?
I hope my English is well enough...
Thank you for your response! (Dutch isn't available, so I will continue in English...)
I wanted to post this question on the site, because AKU patients feel what it's like to have AKU and if it is wise to choose for another child. Is it a 'risk' that we can take? The opinion of patients is very important to me, because they know this disease the best.
Thanks to all!
I'm not a patient either, but work for the AKU Society in the UK. I cannot make the decision whether to have a child for you, but I can tell you the chances of having another child with AKU is less than having a child without AKU. The disease is inherited by a recessive gene - this means that a child must receive 2 AKU genes to have the disease. Statistically, each child you have has a 1 in 4 (25%) chance of having AKU. However we do know of families where every child has unfortunately inherited AKU.
In the UK, parents of a child with a genetic disease can be referred to a Genetic Counsellor (a specialist doctor) who can better explain your choices. I don't know the situation in Belgium, but it may be a good idea to discuss having another child with your GP.
If you want to know any more, send me another message, Oliver
Several years we have been told that this disease "isn't so bad". He cannot have much protein (20g). That's all we have been told. He LOVES to play football (plays now for 2 years!). And he's allways 'helping' his father (bricklayer). He's extremely energetic... I never saw difficulties in that... But now everything changes...
There is a big difference between not playing football and being in a wheelchair... (very black-white conclusion...)
Choosing for another baby with a 1 in 4 chance of having AKU?
I would certainly take the chance if I know that AKU patients can be happy people who can get married, can go to work, can have children... so can enjoy life.
Then a 1 in 4 chance is not so bad.
But I wouldn't take the chance if it is a life full of struggle, pain, sorrow, sadness,... I can't make my baby go trough this... Then a 1 in 4 chance is to much!
I'm sorry if this looks strange, I try to explain my feelings as good as I can in a different language.
This is so difficult because I can't feel what AKU means... Only AKU patients can tell that..
*** not that people who don't marry or have children can't be happy! But I would like him to have the choice...