February 28th is an incredibly important day, especially for those of us working hard to raise awareness about rare diseases.
February 28th is the global Rare Disease Day.
On my support forum, Medical Musings with Friends, I have many members with rare diseases. Some of these diseases have names, some are so rare they are yet to be classified and are deemed to be idiopathic in nature.
As my readers know, my own bone disease has components of various rare diseases but, as yet, we haven’t been able to link it to a known rare disease. In my case it is thought to be caused by a mutant gene.
I am incredibly grateful to my medical team for their continued efforts to try and find the source and a treatment. Mostly all we can do is fix my broken bones as they occur, administer pain medication and provide aid and coping mechanisms to live with severe disabilities.
I am delighted to share with you in this blog post, an article written by my friend and long time forum member, Gina Baker.
Please Welcome my Guest Blogger, Gina Baker
Gina Baker is a beautiful lady who lives in the US and has been diagnosed with Mitochondrial Disease.
I profiled Gina’s story here earlier this year. It is so worth reading Shining The Light on Mitochondrial Disease , to help understand how these kinds of rare diseases transform our lives in so many ways. We often no longer recognise ourselves as we have to learn to live a completely different life.
I urge you to please share this blog post throughout February and March, so together we can do our part to raise global awareness of Rare Diseases and support the work of the Rare Disease Day organisations around the world.
Gina’s article is full of passion and so articulate and while all our stories and experiences are different, she has captured the plight of so many fighting to have their rare diseases recognised and to have their stories authenticated.
So, without further ado…..here is Gina’s article.
What I Want People To Know About Rare Diseases (by Gina Baker)
The 300 million people living with rare diseases seldom receive appropriate medical treatment.
Unlike common chronic diseases, for which there are established and constantly evolving treatments and interventions, those with rare diseases largely struggle to cope with symptoms on their own. This has a devastating effect not only physically, but also emotionally.
Many are often never accurately diagnosed despite dozens of failed attempts and countless consultations with doctors and specialists. When no empirical data for our symptoms is found, we often are given psychosomatic diagnoses of depression, anxiety, and other mental health disorders. Ultimately, doctors give up on us and what is worse, often blame us for our own condition. Even making accusations of self inflicted illness such as Munchausen Syndrome, or labeling us with factitious disorder or conversion disorder.
What I want doctors and medical professionals to know is that we are living poor quality, marginalized lives due to the limitations of our health because of lack of efficacious treatments. We are debilitated, declining, and progressively dying, often living in isolation and poverty without resources and social support.
What people should know about those of us living with rare diseases is that we are strong, courageous, resourceful, and resilient. We have no choice but to be. Otherwise, we would surely be dead. We must dig deeper, try harder, and persist longer for minimal results than most people will ever be called upon to do, even in pursuit of praiseworthy goals. If our efforts were commensurate with accomplishments, we would be the movers and the shakers of the world.
It doesn’t have to be this way. Science and technology are advancing by leaps and bounds. The swiftness with which Covid 19 vaccines were developed shows what can be accomplished with an urgent cooperative effort. There must be a return to an altruistic medical ethic.
Those suffering the most must have equity of access to the scientific advancements that have already been made. Every person who has a complicated, unsolved medical history should routinely be seen by a geneticist and have DNA studies done, with all variants identified and put into a universal data bank that matches variants and symptoms.
Existing treatments for known diseases must be expanded for more uses. We must have compassionate use of treatments and “the right to try” treatments that have shown promise.
In short, the medical establishment must not give up on us or ignore us. We have a right to the best quality of life we can have.
In the 21st century it is incomprehensible that millions with so much potential and such a strong desire to live productive lives are languishing.
Thank you
I want to thank Gina for sharing her voice on behalf of all of us living with rare diseases.
I want to thank my followers who have taken the time to read this blog post and taken the extra step to share it.
The Rare Disease Day organisations around the globe do an amazing job, and it’s so appreciated by those of us living daily a life often full of more questions than answers.
Sam xx
If you’re looking for genuine support, care, understanding & friendship, you are so welcome to join my closed Facebook support forum Medical Musings with Friends. It’s a safe place to connect with others living with chronic & complex diseases, who truly understand the daily challenges. A warm welcome awaits.
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