The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. It occurs on February 29th (the rarest day of the year), or on the 28th on non-leap years.
What Is A Rare Disease?
A rare disease, also referred to as an orphan disease, is any disorder that affects a small percentage of the population. A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
I have lived many lives. They overlap and smear together and it’s hard to tell them apart but I know that there have been many. Once I was a person in London shopping for cashmere socks. Once I was an ugly girl who couldn’t get out of bed for a week. Once I was a man who climbed mountains and conquered horizons. Once I think I blew my own brains out. Once I was an orphan and died of disease. Once I lived a whole lifetime only with animals. Once I was rich and careless and mean. Once I was widowed. Right now I want to be alone and walk everywhere. Funny thing, I could always recognise my own hands. Anytime I wasn’t sure who I was, if I ever got worked up over it, I’d just look at these hands I’m carrying around and then I’d know. Oh, I’m a criminal, okay. Oh, I’m a father, okay. Oh, I’m a scholar, a cook, a murderer, okay. Oh these hands, they’re in love now? Okay.
I’m sorry about the graphic pictures, but exactly 3 years ago today I was diagnosed with a disease called Hemophagocytic Lymphohistiocytosis (HLH) a disease similar to cancer. It’s an uncommon hematologic disorder. This disease attacks the immune system and causes the white blood cells to fight against eachother, causing swollen organs, jaundice and various other medical problems. It’s commonly misdiagnosed and many people die from it because they are diagnosed with the wrong thing. I was lucky to survive from it and it’s a brutal disease that can kill you in a matter of days if not treated. Most patients have to undergo severe chemo therapy, medical procedures and a bone marrow transplant. There’s not enough funding for this because the disease is known as the “orphan disease”. Im doing way better now, thanks to the wonderful doctors who saved my life. September is Histiocytosis awareness month, please let people know about this disease. Please spread awareness of this horrible disease, too many people die from this. Please.
Rare Diseases vary in classification, but there are over 7,000 rare diseases and more being added every year. In the United States a Disease is considered rare if it affects less than 1 in 200,000 people.
However, 30 million Americans have Rare Diseases, making that 1 in 10 Americans or 10% of Americans.
2/3rds of those with Rare diseases are Children, and 30% of Children with rare diseases don’t live to hit their 5th Birthday, and are responsible for 35%+ deaths in the first year of life.
Problems with this:
-95% of Rare illnesses have not ONE FDA approved treatment.
-Approximately ½ of all rare illnesses don’t even have an organization that is disease specific to focus on the illness or research.
It can make it really hard for patients to be diagnosed, since doctors are repeatedly told things such as “If you hear hoofbeats think horses, not zebras”. The doctor that coined that term lived in Maryland, and used it as an example to look for more common things first.
The problem with this is that it can take years to find a diagnosis and once a doctor suspects something rare sometimes they won’t treat you anymore. Many doctors don’t want to deal with rare illnesses, and many even don’t know what you’re talking about when you say your illness name.
-Many rare illnesses are snowflake illnesses which mean everyone presents differently and requires different treatments. That makes it hard because even with more prevalent rare illnesses, like EDS, it means that one person could be totally non-functional and another moderately to normally functional.
-Most patients with rare illnesses have no universal meds, treatment, or way to alleviate suffering and pain, and are often seen as drug seekers, or mentally unstable until they find a doctor that has seen the illness before.
-The lack of knowledge of the illnesses and how to treat it delays and diagnosis which can sometimes mean life or death, or huge unnecessary progression in the illness.
-Many rare diseases have inaccessible specialists. Doctors who can take months or years to get into see, only if you can travel far away and if your insurance accepts the out of network care.
-Treatment varies highly from person to person which means that a lot of time doctors end up disagreeing and fighting on what is best for a patient, causing treatment to be delayed or stopped.
Lets put this in perspective:
-1.5 Million Americans have a heart attack or stroke every year.
-In 2014 there were approximately 14-15 million cancer patients/survivors in the US (And even that number includes some rare diseases!).
-30 Million Americans are affected by a clump of rare, unconnected illnesses that are lumped together as “Rare Diseases” or “Orphan Diseases”
The Sign for Rare Diseases is Zebra Print, or Jeans (As upward of 85% of rare illnesses are genetic).
The 29th of February is always rare disease day.
Sometimes we need to think Zebras and not Horses.
Zebra Strong. Alone we are few, together we are many.
- (if anyone knows who wrote this, please tell me so I can credit them)
To celebrate my finally finishing the semester, I thought I would dish out another OB Science Time, this time in my own fascinating field of epigenetics, and how this relates to the clones of Orphan Black! YAY!!
So what exactly is epigenetics? Epigenetics refers to the heritable alterations in phenotype without changes to genotype, as well as the modifications of gene activity that are not based on alterations of DNA sequence. In other words, there is a heritable and a non-heritable side to the study of epigenetics.
I’ll make this a tad simpler. Almost every cell in your body contains a nucleus that contains all the DNA in your genome. Brain cells, heart cells, skin cells, kidney cells - they all have the exact same DNA. But then why are some genes only expressed in certain cells, causing every cell type to have different functions? Chromosomal modifications. Certain additions to the chromosome (methyl groups, acetyl groups, ubiquitin, etc.) will cause changes in expression of the genes on that part of the chromosome.
Now some of this is inherited from the parents. When mitosis occurs and the DNA is duplicated, the chromosomal modifications are duplicated to ensure that the expression patterns of the genes is maintained. The same happens in the gametes when meiosis occurs, so the epigenetics of the parents is passed down to the child.
But you can also acquire new epigenetic modifications. Cellular interactions, foreign materials, the microenvironment of the cell, the activities of the person, and many other things can cause alterations in the epigenome of a person. The womb is considered to be an important influence on the epigenome, right down to the minute microenvironments, which is why even identical twins can have epigenetic differences because they are experiencing different microenvironments.
So this is an extremely fascinating field, but what does it mean for twins, or even, say, a whole bunch of clones in some great experimental conspiracy on a certain Canadian sci-fi show? Well, it basically means that, even though all the Leda clones have the exact same genome, they can have many differences in their epigenomes, causing all the differences we see between them.
But epigenetics is specifically interesting when it comes to the clone disease! We know that Sarah and Helena are both fertile, meaning they do not express the synthetic infertility sequence that Ethan created. Now this could be due to a mutation in their sequence, or a complete absence of the sequence from their genome. But then why couldn’t Cosima just use Sarah’s bone marrow for the transplant, because she wouldn’t have the same sequence.
Now, if Sarah and Helena both had the exact same sequence, but had epigenetic modifications that were silencing the synthetic sequence, that would explain why their own cells are not an option. Giving Cosima a transplant from Sarah could maybe have a chance of working, but most likely, the environment of Cosima’s body would maintain the epigenetic patterns that were already present, and would remove the modifications silencing Sarah’s gene, making the whole transplant moot (hehe). And Sarah’s genetics would be no assistance in gene therapy, because gene therapy involves the injection of a single naked gene, without any modifications, so the epigenetic modifications would be removed before the injection.
So, basically, not only is epigenetics a completely fascinating field in reality, it can help explain some of what we have seen in Orphan Black!!
As always, if you have any questions, comments, concerns, don’t be afraid to hit me up so we can discuss all the science!!! And for more OB Science Time click here :D
I’ve gotten a few questions about Tony in regards to his risk of getting the clone disease being that he is a trans man undergoing HRT (hormone replacement therapy), so I have decided to dedicate some science time to discuss Tony’s particular case.
As we learned during Cosima’s scientific adventures in season 2, the clone disease is caused by an autoimmune response that is a side-effect of Ethan’s synthetic sequence to make the clones sterile. The purpose of the synthetic sequence was to degrade the endometrium of the clones, but it also inadvertently causes polyps to form, first in the uterus, then spreading to the lungs, and eventually the kidneys.
Now all of our clones - aside from Sarah and Helena who are the mistakes - are susceptible to this disease. It seems to affect them all differently - Jennifer was six months before Katja, and then Cosima - but it is safe to assume that all the clones who are infertile will eventually develop the disease (wraps Alison in my arms protectively). Of course this might not be a problem if Team Science Mega Force can save the day (fingers crossed, toes crossed, arms crossed, legs crossed, body crossed), but for now we still have to worry about this.
Tony provides a unique case compared to all the other clones (at least that we know of so far) in that he is on testosterone. There are many ways in which the body changes after beginning testosterone treatment, and I will direct you all to this fabulous post here by geekdawson that breaks down a lot of the changes that happen. I will just be focusing on the impact specific to Tony and his fictional clone disease here.
Long-term testosterone treatment in trans men who do not have their ovaries or uterus removed has been showed to cause PCOS, polycystic ovarian syndrome. This is a common disorder in cis women as well, in which cysts form on the ovaries, and is associated with an increase in androgen receptors (testosterone is an androgen), menstrual disorders, and sometimes infertility. The increase in testosterone after HRT can lead to the development of PCOS, so it is common for doctors to suggest an oopherectomy within five years of beginning HRT. Of course it is not guaranteed that HRT will cause PCOS, and PCOS is a manageable disorder, so the oopherectomy is not necessary, just often recommended.
There is little known information about the connection between testosterone treatments and cancer. There has been a noted prevalence of endometrial hyperplasia in the uteri of trans men who have undergone a hysterectomy, which is an overgrowth of normal endometrium that often leads to uterine cancer. This may be indicative of an increased risk of uterine cancer due to HRT.
As for Tony, he is already at risk because of the synthetic sequence in his genome. He most likely has already developed lesions on his uterus - as the sick clones have, as well as Beth and Alison because they were also infertile - so his disease could already be progressing. We don’t know how long Tony has been on T, and from his age he could be well into the long-term affects of testosterone on the body. If this is the case, his T may actually progress the effects of the clone disease; Tony may very well be the next clone to show symptoms, if he hasn’t already.
There is no certainty to whether Tony taking T would increase the effects of the clone disease, but it certainly will not help prevent the disease. He very well could experience a heightened, accelerated version of the disease because of his testosterone. It’s safe to say that we should add #SaveTony to the agenda!
Special thanks to 324b21-clone for making my new Science Time header image :D. You can check out my other OB Science Time posts here, and if you have any questions or requests for future topics for discussion, my ask is open!!
i like that whole sexy devil costume thing. i just like the idea of it. like, when you dress up as a sexy devil that’s not like dressing up as a random sexy angel. the devil is the devil, you know? it’s not some guy who works for the devil, it’s the main dude, the one responsible for all the misery and suffering in human history. the devil kills orphans and gives diseases to butterflies and shit and the sexy devil costume is like, “what if you wanted to fuck that?”
I have adult-onset tethered cord syndrome, which is so rare it’s considered an orphan disease and is covered under the National Organization of Rare Disorders. I have over $3000 in medical bills, and more coming as I’m need/want to have to have spinal surgery to fix my spinal cord. So, your spinal cord isn’t supposed to be attached to anything down at the end by your tailbone. It’s supposed to be loose and kind of free floating so when you bend and move and stretch it doesn’t stretch and strain. Mine is knotted up in a nerve root bundle two vertebrae below where it’s supposed to be. I also have a lipoma in my spinal column pressing on my spinal cord. This causes me constant excruciating pain to where I can’t function in normal life. I also have a whole host of other abnormalities that my doctor doesn’t know what they are. My doctors are really dismissive, condescending, and misogynistic, and I’d like to switch doctors but I can’t afford it.
I found out today that my spine specialist (he didn’t even tell me, his receptionist did) that he doesn’t think the surgery is necessary because it’s so risky.
I have a donate button on my blog, and I really hate to ask, but I really need help paying my medical bills and affording rent since my parents and family completely cut me off financially.
Also, I live in Oregon, so anything anyone can tell me about specialists, doctors, health insurance supplements, etc, would be really helpful. Any information you can pass onto me about adult onset tethered cord syndrome would also be appreciated as I haven’t had much luck in my research. Thank you!