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• 
  robpleticha | 8 days ago | Originally written in English Getting information on aHUS

  The National Institutes of Health have Genetic and Rare Disease (GARD) Information specialists that may be able to help you find information.

  The GARD Information Center does not provide genetic counseling and does not offer diagnostic testing, referrals, medical treatment or advice.

  There is a phone number and online form found here:
  rarediseases.info.nih.gov/GARD/EmailForm.aspx

  Information in Spanish and English. You don’t have to be living in the US to ask a question.

  Rob
• 
  robpleticha | 17 days ago | Originally written in English Video on PNH with mention of access to Eculizumab in Portugal...

  vimeo.com/26026976

  "This rare hemolytic anemia is treated with an orphan drug, Eculizumab, which improves the patients’ quality of life. This drug, for which the reimbursement still hasn’t been defined, costs per year and per patient more than 250 000 euros. There are presently patients with no access to the treatment and whose life is at stake." -MJCastelao
• 
  Mireya | Meetings | 22 days ago | Originally written in English Videos of Newcastle Conference online now

  Some great presentations: ahus.org.uk/

  also check out the EURORDIS article on the conference:
  www.eurordis.org/content/ahus-groundbreaki...
• 
  kamaldshah | Transplantation | 19 days ago | Originally written in English Best option for a transplant?

  Hi all,
  
  Here's a brief summary of my medical condition:

  - Diagnosed with aHUS in July 1997 following vaccination
  - Immediately put on hemodialysis
  - Transplant in November 1998 - mother donated
  - Recurrent HUS after 11 days
  - Back on dialysis
  - On PD for 6 years
  - Currently on daily nocturnal home hemodialysis
  - Hepatitis C Positive
  - CFH/CFHR1 hybrid gene detected

  I would like to go for a transplant. I had a few questions:

  1. What is the best option for a transplant - wait for eculizumab availability? Or take a shot with aggressive Plasmapheresis?
  2. Is a live related donor transplant ruled out in aHUS?
  3. Is prophylactic plasmapheresis or prophylactic eculizumab generally preferred for a transplant?
  4. If live related transplant is contraindicated, how can prophylactic therapy be administered if cadaveric transplant is being performed?
  5. Does this mean only live unrelated is an option for aHUS transplants?

  Thanks a ton!
  Kamal
  One reply to the topic — see all replies

  • 
    nmullier 18 days ago | Originally written in French

    Bonjour Kamal,
    Pour nous c'est notre fille qui est atteinte du SHua.
    Après plusieurs mois de réflexion (nous et les médecins) elle sera greffée sous Eculizumab. C'est vrai que nous n'avons pas les autorisations administratives de remboursement mais c'est notre hôpital qui va payer en attendant (merci à eux). Les plasmaphérèses sont elles efficaces pour vous ? Pour notre fille c'est non.
    A votre 2ème question, le don du vivant surtout de la famille est en théorie refusé par les médecins dans le cas d'une maladie génétique. Les mécanismes de transmissions sont encore assez peu connus. Il n'y pas semble t-il qu'un seul facteur qui cause problème.
    A ce jour l'éculizumab est un réel espoir ! Où en êtes vous sur le sujet dans votre pays ?
    Amicalement
    Nicolas

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• European Organisation for Rare Diseases
• National Organization for Rare Disorders