The Atypical HUS Foundation

KEY Info & Resources

The Atypical HUS Foundation   Key Info & Resources

 

NIH GeneReview – Great medical overview of aHUS, with explanations and research links

http://www.ncbi.nlm.nih.gov/books/NBK1367/

aHUS occurs with an estimated incidence in the USA of 2 per 1,000,000 (Cited# 57: Maga, Smith at U of Iowa)

 

aHUS –Potential for Multi-Organ Involvement  (It’s Not Just about Kidney Function)

48% of aHUS patients experience neurological  symptoms  (brain and nervous system),

46% of aHUS patients experience pulmonary symptoms  (lungs),

43% of aHUS patients experience problems with their cardiovascular systems, and about

30% of patients experience complications associated with the digestive system such as an inflamed     colon, abdominal pain, or other issues involving the digestive tract.  FMI, see Alexion’s Patient Materials at  www.aHUSSource.com

 

aHUS Bootcamp -  Written by Families, for Families.   This overview is intended as an introduction for newly diagnosed patients and caregivers to begin their journey in the search to become more informed advocates.  Not meant as medical advice nor offering treatment suggestions,  our intent with the aHUS Bootcamp was to give a 'family perspective' and outline basic aHUS areas so that patients and caregivers can participate in more meaningful conversations with their physicians and medical care professionals.


Rare Disease Resource List - Hundreds of Resource Links to Inform and Support Patients, Caregivers, Families, and Professionals     http://atypicalhus.ning.com/page/usa-rare-resource-list

Caregiver Networks         Patient Assistance Programs        Transplants        Genetics         Therapy Organizations     MORE

 

YouTube VIDEO information about aHUS:                 Atypical HUS Clinicial Channel                 Watch physicians, clinicians, and researchers with deep backgrounds in aHUS explain key topics such as  aHUS diagnosis, genetics, the complement cascade and more.  The Iowa Video Clip Library – Short Topics and other video assets are listed at  http://atypicalhus.ning.com/page/video-topics

 

Doc to Doc Directory  - Professional connections with physicians, for physicians. Clinicians and researchers experienced in aHUS diagnosis and treatment offer free consults by phone or email to the medical community.  PRINT or email this list of contacts for your medical team: http://atypicalhus.ning.com/page/doc-to-doc-directory

 

Genetic Testing – Contact info for 4 labs that conduct specialized genetic screening  for aHUS http://atypicalhus.ning.com/page/genetic-testing

Grab N Go Tool Kit -  Four practical, useful items to download and assist  patients, caregivers, and families to face the challenges of a rare disease.  http://atypicalhus.ning.com/page/grab-n-go-tool-kit

aHUS FAST FACTS      from The Atypical HUS Foundation at www.atypicalhus.org

* aHUS affects patients in all age groups.

* Atypical HUS a life threatening disease that affects multiple organs.   Complications of aHUS may include neurological problems, cardiovascular system issues, or complications related to their digestive systems.

* aHUS results from mutations in genes that make proteins to control part of the body's immune system.   It has no cure.  People with aHUS have lifelong risk of sudden, catastrophic  and life threatening complications.

* Uncontrolled complement activation causes blood clots throughout the body's blood vessels.  This clotting process is called TMA or thrombotic microangiopathy.

* When the disease occurs it can result in damage to small blood vessels, yield low red blood cell and platelet counts, and cause damage throughout the body.  Continued aHUS activity can cause vital organs to fail or slowly lose function. 

(NIH GeneReview – See research articles at http://www.ncbi.nlm.nih.gov/books/NBK1367/ )

* Atypical HUS  is classified as an ‘ultra-rare’ disease,  affecting less than 20 patients per 1,000,000.  (Ultra-Rare Disease Fact Sheet, Alexion Pharma.com)

* Atypical HUS occurs with an estimated incidence in the USA of 2 per 1,000,000 (Maga TKSmith RJ. et al  http://www.ncbi.nlm.nih.gov/pubmed/20513133)  (Census.gov:  2015 US pop. approx. 320,000,000)  

* 29 Candidates for Complement Inhibitors (PNH).  Dr. A. Risitano, 2014: "The Future of Complement Treatment", Slide 4. European Society for Blood and Marrow Transplantation.

 

aHUS Alliance

The aHUS Alliance is an international federation of 14 nations dedicated to promoting aHUS advocacy around the world.  Recognizing that aHUS information is continually evolving regarding research, genetics, and orphan drug development, the aHUS Alliance offers aHUS Facts that are an accurate, updated and a dynamic resource.

Click HERE to view learn about world aHUS Awareness Day, marked annually each September 24th.  View the aHUS Alliance global fact sheets.

 

Rare Disease FAST FACTS    are provided by Eurordis, NORD, and Global Genes .       Global     Rare Disease Day is annually on the last day of February.  JOIN in worldwide advocacy efforts!

There are approximately 7,000 diseases and conditions designated as a rare disease, each affecting fewer than 200,000 Americans.  In Europe, a disease is considered rare if it affects fewer than 1 in 2,000 people.

Rare diseases as a group affect an estimated 25 to 30 million Americans, 1 out of 10 people. Eighty percent of rare diseases are genetic in origin, and it is estimated that about half of all rare diseases affect children.

While more than 300 orphan drugs and biologics have been approved for the treatment of rare diseases by the Food and Drug Administration (FDA), only about 5% of rare diseases have FDA-approved treatment options.  Millions of Americans with rare diseases still have no treatment specific to their disease.

Join www.RareConnect.org – aHUS global webpage in 6 languages sponsored  by NORD and EURORDIS.

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