#RareDiseaseDay2022 Hope is in our Genes

There is a stigma around illness in our society; one that places patients at a point of isolation and loneliness that a regular person could never understand and that makes us cower in fear that they may see our truth.

Unless you have walked in our shoes, you will never understand the difficulty of living this double life, of trying to be "normal" to deny the pain that we're in and to mask the way we have truly felt.?Personally, I've learned to compartmentalize every part of my illness, including the mental aspects and for years pretended to be "normal" just to fit in?and to avoid that stigma around being sick.?I dreaded those moments of telling others about my life, only to get a look of pity and apologies for the way it has turned out.?I've suffered alone, and in silence so as not to burden others with my so-called problems.

Because I don't look sick, I've been accused of being a hypochondriac by my own family and dismissed by doctors, only to prove that there really was something wrong, time and time again.

Years ago, when I received a lupus diagnosis, I thought my problems were over. Just knowing that I had a real diagnosis brought peace but it was only the beginning. Since then, through my own self advocacy and sheer will, I have been diagnosed with three additional rare conditions, (Autoimmune Autonomic Gangliopathy, Left ventricular non-compaction myocarditis and Genetic anomalies of leukocytes) taking my total diagnoses to over 30, and yet we're no further than we were 25 years ago.

Today, I am still undiagnosed. The medications that I have used to treat the symptoms of my diseases have caused permanent damage and rendered me permanently disabled.??My medical costs continue to rise as we navigate through this black hole. but despite all of that, I am hopeful.

Being recently admitted into a coordinated Care program at Stanford, I am using the knowledge (and friendships) I have gained through advocacy to find the root cause of my illness, in an attempt to spare others this difficult and often painful journey.??Armed with information about genomics and my own implausible curiosity, I know one day soon we will find the answers...

And so I wait....

Alongside thousands of others in hopes of new treatments and faster cures, I will continue to explore my own health and that of those around me.?The journey of a rare disease patient isn't easy, but our lived experience (together) may give doctors, researchers and the healthcare industry the knowledge we need to solve these problems.

We are not less than or a burden on society, we are people too... As patients, we hold the key to the future and a hope for a better quality of life. I leave my trust in science and the hundreds of thousands of people who are working to make change and live with the expectation that someday life will be better for us all.

For my fellow zebras, don't lose that hope. There are brighter days beyond this storm and we will get there, but we have to do it together, ??

"It is only through collective intelligence and collaborative leadership that we will find viable solutions that work for us all."