It took us 14 years to get a correct diagnosis. I first had signs that something troublesome was going on in 2004. I was passed… Continue reading Keep Searching for Answers
It took us 14 years to get a correct diagnosis. I first had signs that something troublesome was going on in 2004. I was passed… Continue reading Keep Searching for Answers
I was born in Portugal with a rare genetic disorder called Crigler Najjar Syndrome (CNS) type 1, a serious condition affecting the liver. CNS is… Continue reading A happy story with Crigler Najjar type 1
We care for alopecia areata, an autoinmune disease, including its most agressive forms (alopecia totalis & universalis, both rare diseases) and frontal fibrosing alopecia, another… Continue reading Asociación Argentina de Alopecia Autoinmune
Hi everyone, my name is Dwayne; I am 54 years old. I was diagnosed with Late Onset Pompe disease (LOPD) in November 2018 when I… Continue reading I am Smashing Pompe!
What was supposed to be a routine cleaning at the dentist led to being diagnosed with two chronic diseases. Between checking for cavities and reminding… Continue reading “It’s all in your head.”
Our daughter, Bianca was diagnosed with HSAN IV (hereditary sensory autonomic neuropathy) also known as CIPA (congenital insensitivity to pain with anhidrosis) at age 8… Continue reading A Life Without Pain
My story has been written as a blog for sometime now. This is the title page ☺ Four and a half years ago, in May… Continue reading Let’s see what happens now.
My story begins with my stepdaughter Robyn who lives with X-linked hypophosphatemia (XLH) for short when she fell pregnant with Leo we were so delighted… Continue reading My Stepdaughter and both grandchildren suffer with XLH
Below is what I shared on my Instagram this year for Rare Disease Day 2022: I am writing on behalf of my sister, Jennifer (May… Continue reading Jennifer (My Little Sister)