My 6 yr old grandson was diagnosed with aHUS about 3 weeks ago. Should we be seeking a second opinion?
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As Linda mentioned, there are no quick diagnostic tools for determining if a patient has aHUS, it is more a matter of looking at lab work and other indications, like blood pressure, urine with trace amounts of blood, ect. Do follow up with the Doc to Doc registry and do have the doctors do the genetic testing. Be prepared to wait a few months for the result, but be aware that approximately 50 % of patients have unknown genetic causes. If you have more knowledge than the doctors from reading this site, it is probably beneficial to go elsewhere. But if thendoctor/s are willing to get up to speed, seek advice from other experts on the diseade and follow norms of treatment for your grandson, then I think it would be okay to stay put.
As a parent, I feel that one of the most valuable aspects is becoming informed and becoming an active member of your loved one's Care Team. A diagnosis of atypical HUS is often referred to as a 'diagnosis of exclusion' meaning that rather than testing for aHUS directly as is common with other diseases, aHUS is the diagnosis left after other diseases are ruled out. Compounding that issue is that aHUS presents differently in each patients, including the severity and multiple organ involvement that is possible (see the Forum about multi-organ involvement).
Physicians faced with their 1st case of this ultra-rare disease often reach out to fellow physicians, and our Home page hosts a physician to physician directory. These volunteers are clinicians and researchers who can be reached by email and/or phone so that other docs can have a physician expert in aHUS available at absolutely no charge to the doctor or aHUS patients. Our 'Doc to Doc Directory' for physicians is listed in multiple places on this site, including at http://atypicalhus.ning.com/page/doc-to-doc-directory .
Print this out, and Alison can bring it to Cole's next medical appointment and encourage his Care Team to connect with other doctors for a second opinion backed by Cole's lab work and other facts. The University of Iowa is our Foundation's aHUS research partner, and the directory lists contact info for both pediatric nephrologist at Iowa, Dr. Pat Brophy and Dr. Carla Nester. The other volunteer docs on this list are all highly regarded in aHUS international circles, too.
Thanks to the generous spirit of the volunteers on our "Doc to Doc Directory", Cole's physician has access to world class aHUS experts to assist with any 2nd opinions or questions about care. It's great that Cole has already begun Soliris, too - so Alison should check with OneSource at 1-888-soliris for any questions that she may have regarding Cole's health.
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