Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.
Approximately one in 5,000 babies are born with a birth defect called gastroschisis. When a baby's intestines are protruding through a hole in the stomach wall resulting in the intestines being…
Continue ReadingWhen Your Child Has Special Needs, So Do You! Seek Support.
Let's talk blood donation. I recently spoke with a man from a small African country who suffers from hemophilia. He told me that when he was growing up, there was no…
Continue ReadingDonate Blood in the Name of Bleeding Disorders Awareness Month
To walk in the shoes of others is sometimes what it takes to truly understand their journey. So when I came across the blog, Jason and Justin's Journey x2 - Don't Stop…
Continue ReadingHunter Syndrome Taking Less and Less Lives Prematurely
Devic's disease, also known as neuromyelitis optica (NMO), affects the spinal cord and the optic nerves. It is a relapsing-remitting disease, meaning its symptoms can appear and disappear. In NMO,…
Continue ReadingNeuromyelitis Optica (NMO) Doesn’t Fool Around! Get Diagnosed, Get Treated!
April 17, 2017 is World Hemophilia Day. This is significant not only for people with hemophilia, but also for those with other bleeding disorders like von Willebrand disease (vWD). If…
Continue ReadingGet Your Learning On – April 17, 2017 – World Hemophilia Day
Our kidneys do a lot of work keeping the body healthy. They filter fluids, electrolytes, toxins, and waste the body can't use. Inside the kidneys are blood vessels that help…
Continue ReadingYour Kidneys Deserve a Round of Applause For Their Hard Work
Lately, I've been learning a lot about mucopolysaccharidoses (MPS). MPS covers a lot of territory. It refers to when the body is missing a particular enzyme--it doesn't matter which one:…
Continue ReadingMPS Patients May One Day Benefit From Gene Therapy
In 1932, a Dutch physician named Johannes C. Pompe noticed significant muscle weakness in an infant he was treating. In the years that followed, scientists would not only name the…
Continue ReadingSpeaking Up About Pompe Disease Can Make a Difference
Most parents have had their child fall asleep in an unusual place (think on the potty) at least once. But when it happens frequently, (during mealtimes, in the middle of…
Continue ReadingCould Your Child’s Excessive Daytime Sleepiness be Narcolepsy?
When the human brain experiences a sudden disruption of blood flow, a type of paralysis called "hemiplegia" can result. Paralysis can occur on either the right or left side of…
In these times of political uncertainty, when budgets are being slashed, and medical programs are being defunded without regard to the people who will ultimately suffer, I certainly hope that…
Continue ReadingClinical Trials Save Lives and One Woman Wants in for Pompe Disease
Gorlin-Chaudhry-Moss, or GCM, is an inherited disorder that falls under the umbrella of craniofacial syndromes. While the fetus is in utero, premature closure between bones in the skull occurs, and that…
On January 8, 2017, a man with one of the most brilliant minds of our age celebrated his 75th birthday. This, by itself, wouldn't be particularly remarkable, however the celebrant…
Hereditary angioedema (HAE) causes unexpected swelling in the hands, feet, abdomen, and face. HAE can be fatal when the patient has a laryngeal attack, where swelling in the throat makes it impossible…
Continue ReadingA New Treatment for Kids With HAE Shines the Light on Hope
Carcinoid tumors usually develop in the gastrointestinal tract or the lungs. Because they are very slow-growing, patients may remain symptom-free for a long period of time. While this is good,…
Continue ReadingA New Drug to Bring Hope to Carcinoid Syndrome Sufferers
In the rare disease world, getting a correct diagnosis can be akin to playing the lottery. Symptoms often mimic other conditions, and many healthcare professionals have never seen a patient…
Continue ReadingWhen an Infection is Not Just an Infection… Could it be PID?
Does the name Ludwig van Beethoven ring a bell? It should. He was one of the greatest composers the world has ever seen. He also suffered from cirrhosis of the liver, infectious…
Continue ReadingCould Modern Medicine Have Saved Beethoven’s Life? We’ll Never Know.
With all the political hocus-pocus that's enveloped the United States over the past year, I'm starting to get "petition burn-out," "marcher's burn-out," and just a general "call-to-action burn-out." This is…
A story I read about a man with ankylosing spondylitis (AS) brought back a great memory for me. A few years ago, I was spending a lonely New Year's Eve…
Alveolar capillary dysplasia, or ACD, is an exceptionally rare disease that seldom has a positive outcome. It begins in the womb when the alveoli capillaries in baby's lungs don't properly…
Continue ReadingAlveolar Capillary Dysplasia Almost Cost This Baby Her Life
I just had my yearly physical and something weird (for me) popped up in the blood tests. My cholesterol level was up. Not through the roof, but enough to raise…
Continue ReadingTreatment for HoFH Can Help Patients Live Longer, Healthier Lives
[Source: By Bobjgalindo (Own work) [GFDL (http://www.gnu.org/copyleft/fdl.html) or CC BY-SA 4.0-3.0-2.5-2.0-1.0 (http://creativecommons.org/licenses/by-sa/4.0-3.0-2.5-2.0-1.0)], via Wikimedia Commons]
Primary sclerosing cholangitis, or PSC, is a chronic progressive disease that damages the bile ducts. And, if you didn't know, bile is a liquid that assists the body in the…
Continue ReadingPrimary Sclerosing Cholangitis Can Do a Number on Your Liver
What if you were born with an enzyme efficiency that prevented your body from breaking down lipids? Then you are probably one in 50,000 people who has Gaucher disease. And…
Continue ReadingGaucher Disease: 21st Century People Share Their Experiences
Myasthenia gravis is a chronic neurological autoimmune disorder that causes weakening of the voluntary muscles in the body. The most frequently affected muscles control eyelid movement, swallowing, and facial expression. In the…
Continue ReadingWhen MG Strikes… Learn More at the March Conference!
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