Skip to main content

Valuable References

PLEASE FIND A FEW LINKS BELOW WITH VALUABLE INFORMATION...


Pompe patient organizations
Acid Maltase Deficiency Association (AMDA)
www.amda-pompe.org

International Pompe Association (IPA)
www.worldpompe.org

Association for Glycogen Storage Disease (AGSD)
www.agsdus.org

United Pompe Foundation (UPF)
www.unitedpompe.com




Rare Disease Support
Running for Rare Diseases
http://runningforrarediseases.org


Advocacy and support services
Genetic Alliance
www.geneticalliance.org

Muscular Dystrophy Association (MDA)
www.mdausa.org
www.quest.mda.org

National Organization for Rare Disorders, Inc. (NORD)
www.rarediseases.org

National Society of Genetic Counselors (NSGC)
www.nsgc.org


Children’s advocacy
National Dissemination Center for Children with Disabilities (NICHCY)
www.nichcy.org

Parent to Parent (P2P) USA
www.p2pusa.org

Family Voices
www.familyvoices.org


Caregiver support
National Family Caregivers Association (NFCA)
www.nfcacares.org

National Caregivers Library
www.caregiverslibrary.org

Family Caregiver Alliance (FCA)
www.caregiver.org

Well Spouse Association
www.wellspouse.org

CaringBridge.org
www.caringbridge.org


Clinical trial information
www.ClinicalTrials.gov
www.ClinicalTrials.gov


Other Pompe Blogs

Comments

Post a Comment

Popular posts from this blog

The New Adventure

Madeline Jane Crowley is an 11 year old girl living in suburban Philadelphia who was diagnosed with Juvenile Pompe Disease on November 18, 2009. Maddie is a vibrant child filled with humor, energy, and wonder. She believes in her family, friends, doctors, and the magic that can happen when people dare to believe. Her care is being lead by Dr. Bonnemann MD, Asst. Professor of Neurology and Pediatrics, at Children's Hospital of Philadelphia (CHOP), and includes a team consisting of a Genetic Counselor, Physical Therapist, Clinical Trial Specialist, Nutritionist and many others. Maddie will begin treatment with Genzyme's Myozyme drug in January 2010. What this means, we don't know. But we do know that our family and loved ones will support her every step of the way. Whatever happens we will fight for our daughter and will succeed in helping her and many others battling this disease. All for one, and one for all! Sincerely, Matthew and Donna Crowley
31 comments
Read more

The Long and Winding Road to Diagnosis

The long and winding road That leads to your door Will never disappear I've seen that road before It always leads me hereLead me to your door. Hello all. Thank you so much to everyone who has visited Maddie’s blog to date. We are humbled by the response and empowered by all the positive comments. I thought it might be helpful to briefly explain how we got here, so here we go… In May 2009 Donna noticed Maddie was losing some hair so took her to the pediatrician who ran blood tests to see if she had a thyroid problem, mono, or other issue that might be linked to hair loss. The results came back showing elevated liver enzymes which caused the doctor (thankfully!) to forward the information to the top liver specialist at CHOP. We met with Dr. Rand who was wonderful and assured us that they would determine what was going on. Maddie then had a liver ultrasound and additional blood tests to rule out a number of possible culprits. The results showed an increase in the CK enz...
15 comments
Read more

July's Forecast...Reduced Snowflakes

The night before we moved from our Northern California home a friend who learned we were moving to the Northeast asked me a question.  "Do you know it snows there, even when you don't want it to?"  I laughed it off speaking instead about the beauty of the Northeast, my new job opportunity, and of course the cheesesteaks.  While I thought it was a humorous question at the time, I must admit I repeat it each winter as I gear up to clear the snow from the driveway.  Seven years after living on the east coast I've realized I have two favorite parts of a winter storm.  The first is watching a heavy snowfall where the snowflakes are so large and distinct you can reach out and touch the magic of winter.  The second is when that last bit of snow is washed away by a gentle spring storm clearing the way for warm, sunny days.  Sure there's all that other "stuff" in winter that's cool too, but when it comes to co...
15 comments
Read more