The Foundation for Children with Atypical HUS

My 6 yr old grandson was diagnosed with aHUS about 3 weeks ago.  Should we be seeking a second opinion?

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Comment by Cheryl Biermann on April 7, 2014 at 10:08am

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.

Comment by Linda Burke on April 2, 2014 at 3:06pm

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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The Foundation for Children with Atypical HUS encourages patients and investigators to share information and explore options/resources as we work together to gain insight into this rare complement disorder. By increasing contact opportunities with researchers and medical personnel interested in helping the aHUS community, our stories foster a better understanding of atypical hemolytic uremic syndrome.

Sharing information, inspiration and support for one another, we seek to gather together people and knowledge as we strive to improve the lives of patients and families dealing with a diagnosis of aHUS.


NEW DIAGNOSIS OF aHUS?
Be proactive! Get the medical basics of aHUS, what lab values to monitor, and areas of concern...check out the "aHUS Bootcamp" and "About aHUS" tabs at the top of this page!
If your doctor has never treated a case of aHUS, please print out our 'Doc to Doc Registry' and ask him/her to contact a physician versed in the complexities of aHUS and new options for 2011 genetic testing and treatment.

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NOTE: Our 'Send a Message" function on each Member's page allows for private discussion of personal content. As with any social network, be cautious about giving personal contact information (home email info, phone number) until you have an established relationship with another person, organization, or associated website.

 

Did you know...

CFH (Serum Complement Factor H) is a regulatory protein. The secreted protein product of CFH consists of 20 repetitive units named "short consensus repeats" or SCRs (each approximately 60 amino acids). In patients with aHUS the last 5 "pearls" in the twenty pearl strand protein, SCR16 - SCR20, should bind to protect cells but do not- they are defective in one or more of the last 5 SCR locations. If they cannot bind or stick to the kidney to protect that tissue, the platelets clump into clots that affect the glomeruli of the kidney -potentially causing acute renal failure.
  
• • • • • • • • • • • •
  
It is estimated that there are about 300 cases of aHUS in the U.S., and it is most common with young children. The condition is life threatening and either can be chronic or can recur at intervals.
  
more factoids...

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Your tax-deductible purchase of one or more bracelets will directly fund research to help that aHUS families live with every day. Each bracelet has an appraised value of $825, but your purchase price is only $295.

  

  
Or you can donate a specific dollar amount-every dollar will help our research efforts of the Foundation for Children with atypical HUS at www.atypicalhus.org and www.atypicalHUS.net


Donations may be made via credit card or Paypal. If you prefer, checks made payable to The Foundation for Children with Atypical HUS may be mailed to:

Foundation for Children with Atypical HUS
C/O Deborah Lewis
PO Box 333
Barnhart, MO 63012


For pearl bracelet orders, please allow extra time for processing checks. Questions about aHUS donations? Please email Linda@atypicalhus.org


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