Ever imagined going to the doctor’s for a complaint of thigh pain and thinking it will be resolved within a week but ended up not having a diagnosis other than your skeleton is full of bone lesions with unknown origins? True story. Am still living through this.
Before you say, I should, I assure you, I have.
The Rare Disease community calls this circumstance as part of the diagnostic odyssey. I have been in this state for almost five years running (I deserve a medal, along with the doctors, nurses and allied health personnel who worked on my case). Getting a diagnosis for rare diseases can take between four to twenty years, in some cases (such as mine), for eternity. Since my bone lesions seem to be inert, my doctors (bless them for trusting me) told me to listen to my body, if anything feels wrong, reach out to them. Believe me when I say for rare disease patients, most times it is not a choice to be an expert on your conditions. I mean their caregivers and them should be awarded PhDs for it. Due to the low prevalence of rare diseases, no human can ever be a master of the arts and science of screening, diagnosing and treating ALL rare diseases. How many rare diseases you ask?
According to EURODIS (EU organization that focus on rare diseases), more than 6000 types of rare diseases have been recognized.
Allow me to bore you with the facts on rare diseases that we know up to this point in time. Rare diseases are diseases which occur very rarely in a given population, and no country or health organization have been able to pinpoint the exact number to be considered as rare. EURODIS considers a rare disease to be one that impacts 1 person out of 2000 persons. The Americans, which are covered by NORD defines a rare disease to be one that impacts less than 200,000 persons for the whole of USA. For Malaysia, the Malaysian Rare Disease Society (MRDS), an umbrella NGO for rare diseases, they are proposing 1 in every 4000 as the definition of rare disease. Also, there are context based consideration such as geographical or ethnicity, to be factored in.
Rare is really a misnomer since the combination of the more than 6000 types of RDs is expected to be around 5-7% of a population of a country. Let’s take the population of Malaysia, where it is currently at around 30 million people, so 5% of that translates to 1.5 million persons. These people have family members, who will inadvertently need to care, teach, arrange for medical procedures and fund the lives of their loved ones. More than 75% are genetic based. About a third of children under the age of 5 is estimated to die from rare diseases. It might explain the ‘mysterious’ illnesses that some babies and children are impacted by.
I would definitely peg this as a public health concern, but then again would experts from our ministry of health (MOH) agree?
In my case, it did not just stop at the holey bones, a year after that I developed black spots in my vision. I consulted two ophthalmologists, who then roped in a neurologist to manage my case. I was subjected again to a full medical screening that were performed on me the year before. It got to a point where I can sleep in the MRI machine (other than being claustrophobia inducing, the MRI machine is REALLY noisy). One of the ophthalmologist suggested I take a diuretic pill, and after a few months the symptom subsided. This was how they diagnosed me with Idiopathic Intracranial Hypertension (IIH), a rare disease that almost exclusively impact women of child bearing age. By then I was familiar with the word idiopathic and it is my most hated word as it means unknown cause of disease. The diuretic pill worked its magic though, and I haven’t permanently stopped taking it.
Back to the bone lesions.
I was referred to an orthopedic surgeon in HUKM who immediately after looking at my MRI, he immediately came out with 3 working diagnosis: Langerhans Cell Histiocytosis (LCH), Bone Tuberculosis (TB) or some form of malignant cancer. LCH is a rare disease, one that researchers are debating whether to class it as a rare cancer or not. He told me if he can confirm this diagnosis I would be one out of 30+ persons in Malaysia to have it (yay, I guess?). There were talks of having to go through radiotherapy, hence the importance of really knowing what it is. I had surgery, from the cervical to the sacro spinal level. Added nuts and bolts and cage and rods to my spine, and did a bone biopsy too. The best part? None of the tests done were positive. Little did I know that spine surgery has a life long impact to my life.
I was referred to HUSM then, who did another bone biopsy, which still shows a negative result. They added Multiple Myeloma to the list of suspected diseases, despite me being too young to have it (usual onset is after 50 years, and I just entered my 30s). If I was confirmed, again I would be a rare case.
Alas, again it’s a no.
It got to a point that I wish for a cancer confirmation. Mostly because I believe to solve a challenge, we would need to define what it is. Then only we can formulate an action plan to address said challenge. Obviously it impacted my mental health, being neither here nor there. What can I do or not do? What can I consider as a symptom for my diseases versus just having a fever? How much can I carry? How far can I walk, or not walk? I have to drop my passion for squash, for bag packing, which I consider as part of my identity. And no one can give answers.
Quoting my ajarn (professor): I can’t imagine waking up and having pain and not knowing how or where it came from. How would you even decide what is normal anymore?
To some level I do lead a ‘normal’ enough life. I can’t imagine those who are rendered bedridden, unable to process the food they eat and derive nutrients from it. Where every seizure or slight fall is a medical emergency. Or having the wrong food might kill you. The touch of cloth sending pain shooting from your skin into your bones. Developmental problems. Am still very lucky everything considered.
With the challenges that we face, we still do our best to face life. A little bit of accommodation provided me the chance to pursue a Masters in Health Economics (fingers crossed I’ll graduate!), explore the world on my own terms and work for more than ten years running. It also provided me with a different lens to look at disability, chronic illness and rare diseases, and in my own way, practice being an advocate. All this, together with the myriad of symptoms I face daily.
So. In the interest of my tribe, especially the rare disease families in Malaysia, let’s all educate and celebrate these really rare breed of superstars. Help us to push for better medical coverage, be it in terms of research and development in the clinical and medicinal side, access to treatment and provide us with better know how in living with our bodies. Help us fight for our rights to be accommodated, to be invited into common spaces and not let us fight alone. 29 February is the rarest day to occur in the Gregorian calendar, hence the choice.
Rare Disease Day, 29 February 2020.
Truly am one in a million.
This article is written based on the writer’s personal experiences and opinions.
[This article belongs to The Malaysian Medical Gazette. Any republication (online or offline) without written permission from The Malaysian Medical Gazette is prohibited.]