While
I do not mean for you all to take the title of my article literally, I do
believe there is some sort of ineptitude when it comes to these diseases, as
you would think with all the knowledge we hold and scientific understandings of
diseases we have, we would be able to discover a cure or insight into these
incurable illnesses. As described by MedicineNet, an idiopathic disease is
described as any disease that is of uncertain or unknown origin may be termed
idiopathic. While this does not affect me personally, my mother was diagnosed
with Subglottic Stenosis around five years ago, a fairly rare idiopathic
disease effecting around 1 in every 400,000 people. This condition is
characterized by the narrowing of the upper trachea, more specifically the
cricoid cartilage, with the most prominent symptoms being stridor and dyspnea,
with minor symptoms being increased mucous production, voice changes, and
persistent cough (National Organization for Rare Diseases). Nearly ever
individual diagnosed with this disease is female and premenopausal, and usually
falls within the age range of 30-50 (Mayo Clinic).
With
the descriptives out of the way, we can now focus on my mothers story of how
her diagnosis came about. Having struggled with severe asthma most of her life,
it was not until her mid-40’s that she decided to visit a family friend who is
an ENT Doctor at Mayo Clinic, to see if maybe her asthma was more than she had
thought. As she would come to discover, her airway was about 60% closed, and
the culprit was ISS (Idiopathic Subglottic Stenosis). While there is not a
direct cause as to why ISS affects people the way it does, it is often thought
to originate from a trauma accident involving the trachea or improper intubation
due to surgery or emergency medical intervention. Although neither of those
have been proved to exactly cause ISS, my mother had not experienced either of
those events and was back to square one when it came to thinking, “how in the
world did I get this condition.”
In terms of surgical
intervention and standard therapies related to this disease, endotracheal
scopes are often performed every three to six months depending on severity of
the disease and balloon dilations are performed to increase the diameter and
circumference of the airway (Mayo Clinic). Personally, my mother has an
endotracheal scope performed around every six months or as needed, and a
balloon dilation every year to year and a half. In a study recently performed
by the North American Airway Collaborative, over one thousand patients who have
ISS were examined, of which 98% of them were Caucasian women, and a new
hypothesis was formed that this may be a hormonally driven disease, while some
argue that its genetic, a specific answer has not yet been derived (Gelbard et
al., 2016). As someone who has a family member that is directly affected by
this condition, it is infuriating to have to know that there really is no
proven treatment for this illness, and makes me think why do we not have the
answers when there is so much knowledge out there on other diseases, but why
not this one.
Gelbard
A. et al. Disease homogeneity and treatment heterogeneity in idiopathic
subglottic stenosis. Laryngoscope. 2016 Jun;126(6):1390-6. doi:
10.1002/lary.25708. Epub 2015 Nov 4. PMID: 26536285; PMCID: PMC6198250.
N.,
& Gelbard, A., MD. (2018, July 19). Idiopathic Subglottic Stenosis.
Retrieved October 04, 2020, from https://rarediseases.org/rare-diseases/idiopathic-subglottic-stenosis/
Schiavo,
D. M., M.D. (n.d.). Pulmonary, Critical Care, and Sleep Medicine. Retrieved
October 04, 2020, from
https://www.mayoclinic.org/medical-professionals/pulmonary-medicine/news/multidisciplinary-care-of-idiopathic-subglottic-stenosis/mac-20451594
I think a lot of this has to do with money and cost of identification. I agree that idiopathic diseases as a whole are terrible, but there is usually a cost incentive in studying diseases. With heart disease people have sequenced the human genome and found genes the that largely correlate and barely correlate with increased risk of of heart disease. The reason being that a lot of people get heart disease. As you pointed out only 1 in 400,000 people are diagnosed and sadly this means that it is going to receive bare minimum on the research side of things. This raises the question of how to incentivize rare disease research. Sequencing the genome for this would be quite difficult and extremely expensive definitely costing in the thousands and possibly hundreds of thousands given rarity and not knowing causes preparing medications for treatment is quite difficult. What do you think is a good way of incentivizing research into rare diseases? Should the government step in and force these companies to do more? Obviously I wish companies would be less greedy but such is the world we live in.
ReplyDelete