Subtitles section Play video
Hello lovely people, today we’re going to be answering that age old question: “what’s
wrong with you, Jessica?” If you’ve seen my ‘I was misdiagnosed’ video, you’ll
know that I now have a better idea of what that actually is!
Many, many years ago I made a video called ‘my disabilities’ that explained a bit
about my disabilities
- you can tell it was made a long time ago because both the production values and my
eyebrows are terrible.
Subscribe to support my much better (newly microbladed) eyebrows
[thumbs up, ding]
At least, that video told you more about the disabilities I had been diagnosed with at
that point: Hereditary Neuropathy with Liability to Pressure Palsies and Mixed Connective Tissue
Disorder. The first of these is diagnosed via a blood test and DNA sequencing- I’m
missing a gene, so even a computer can spit that result back at you- but the second one
was diagnosed by my rheumatologist. Who apparently was wrong.
- I drop the word ‘rheumatology’ into videos all the time like it’s as common
as the word ‘egg’
Rheumatology is the study of immune-mediated disorders of the musculoskeletal system, soft
tissues, autoimmune diseases and heritable connective tissue disorders. If you have one
of those and live in Manchester you may have been treated at the Kellgren Centre for Rheumatology,
which is named after my grandfather, who was Britain’s first professor of Rheumatology
and greatly advanced the study of the physiology of pain, which is something I deal with every
day, because irony knows no bounds.
- please feel free to argue in the comments about whether or not that is actually irony
and what irony even is, points for dissection of Alanis Morrisette’s song.
So my doctor thought I had Mixed Connective Tissue Disorder and I thought I had Mixed
Connective Tissue Disorder and the internet was like... ~meh~
People left me comments saying “I think you have EDS” and I made friends with EDS
who said “I think you have EDS” so I went to a new rheumatologist who said “you definitely
have EDS”
It was obviously a much longer and more dramatic tale than that but I talked about it in the
misdiagnosis video. THIS video is about my NEW diagnosis.
Aaand this seems like a great point to throw in that I’m deaf but no one knows why. Put
a pin in that one. But I do keep getting tagged in Twitter conversations about the high crossover
of people with hearing loss and EDS so…
- [sips drink] interesting…
Let’s start with my first and much easier to understand congenital disability: HNPP,
Hereditary Neuropathy with Liability to Pressure Palsies, otherwise known as ‘I’m missing
a gene so the protective coating around my nerves has holes in it which means my nerves
damage easily and I can temporarily paralyse parts of myself’. Basically, if I trap my
finger in a door, it paralyses. If I sit on my crossed legs for too long, they paralyse.
If I hold my unsupported arm in the air whilst painting… it paralyses.
It’s a highly irritating condition that has the incredible knack of popping up exactly
when I don’t want it to.
Got a party? Watch me paralyse something!
First day of a holiday? Watch me paralyse something!
Need to open a fun parcel with some scissors? Ha! That paralysed my hand.
HNPP doesn’t just lead to floppiness and numbness though, it also makes my nerves randomly
fire pain signals at me and read things like cold water or a splinter as “you are being
murdered!”
But at the same time it can work the other way and I won’t notice that the skin on
my arm has been flayed
(that actually happened)
or that I’m walking around on a broken toe.
A thing that happened.
So at least it’s interesting!
And because it hurts so much I take a really huge dosage of pain medication that I then
put into these adorable pill cases. They make a rainbow and they’re fun. I’ll leave
a link to them in the description.
- was it a reach to find that particular silver lining? Well, it’s an affiliate link so…
looks like HNPP is being helpful after all! [wink]
So that’s Condition 1.
Then we come to Condition 2, which is a little more complicated and, as you’ll know if
you watched my video on Tuesday, quite misunderstood...
EDS, which is short for Ehlers-Danlos Syndromes, is a group of thirteen individual genetic
conditions that affect the body’s connective tissue. Think about connective tissues as
being the glue that holds your body together. The human body is composed of four basic types
of tissue: nervous, muscular, epithelial and connective. Connective tissue is the most
abundant as it connects, supports, binds, or separates other tissues or organs. From
fibrous tissues, fat, bone, blood and bone marrow, this stuff is everywhere! The most
abundant fiber in connective tissues is a tough protein called collagen. Tendons, ligaments,
and the white stringy tissue seen in some cuts of meat are composed almost entirely
of collagen- it’s not just something adverts tell you your skin is missing. Collagen also
strengthens bone and cartilage.
- and having strong bones and teeth is much more important than not having smile lines
so please don’t spend extortionate amounts of money on skin care with flakes of gold
in, you deserve better than that
and you’re already gorgeous.
EDS is a gene mutation that causes a certain kind of connective tissue to be fragile and
stretchy. The kind of tissue it affects will depend on the type of EDS you have, but most
often it’s collagen. As collagen is present throughout the body, people with EDS tend
to experience a broad range of symptoms, although being hypermobile (ie. joints that stretch
further than is normal) or double-jointed and the effect it can have on your very stretchy
skin are the most obvious ones whilst tissue fragility in general can be hard to see from
the outside.
Because it is, inside your body.
I’ve recently become really annoyed at my inability to grab toilet paper properly.
Yes, there is a correct way to grab toilet paper. Let me demonstrate:
Most people would make a pincer motion with their thumb and the top of their finger but
for me that finger is just too ouch, wobbly.
So I have to make a pince motion between my thumb and the first joint of my fingers.
Like so.
And that would be fine… if it didn’t make me sick to my stomach every time I do it.
Helpful(!) Glad it’s not something I have to deal with every few hours (!)
- how dare you.
Other than being made nauseous by toilet paper, symptoms include long-term pain, chronic fatigue,
dizziness, heart palpitations and digestive disorders. Since, you know, there’s a lot
of connective tissue down there!
EDS can hit you in very strange ways, to the extent that most people have a range of really
weird symptoms that don’t seem to connect or make sense until… you find out you have
EDS. For instance I’ve always been allergic to random things: trees, wool, rabbits, grass,
cats, dogs, glitter, caterpillars… aloe vera… to name just a few. But my reactions
to them are all over the place! Sometimes cats make my eyes itch, sometimes they make
me really need the loo, sometimes they make me lightheaded and sometimes they make my
skin dry and itchy.
- I know, I’m a lesbian who doesn’t like cats, I’m surprised the community hasn’t
ostracised me yet!
Fun fact: EDS and allergies are related. [bell sfx] so leave Jameela Jamil and her peanuts alone.
Mast cells are a migrant cell of connective tissue that contains granules rich in histamine,
which is part of your immune response, and heparin, an anticoagulant. Mast cells play
an important role in your immune system BUT if you have connective tissue issues they
can become over-responsive and do weird things when you come across an allergen. These responses
include: itchy skin, pain in the abdomen, fainting, blood pressure instability, gynecological
bleeding, brain fog, shortness of breath, bone pain, nausea and… needing to pee. Because
you are allergic to something.
Mast cells interact with connective tissues in the extracellular matrix, which may be
why people with connective tissue disorders such as EDS experience mast cell activation
syndrome (MCAS).
And the ‘allergens’ don’t have to be obvious things like animals or insect stings-
exercise or high emotions can also trigger an immune response.
- I mean… used to tell my gym teacher I was allergic to exercise… turns out I wasn’t
that wrong...
Despite the grouping and their common name, each of the 13 types is a distinct condition
caused by a different gene mutation. Meaning that one type cannot later turn into another
and you can’t inherit a different type to the one your parent has. Funnily enough, since
they’re each so rare in their own special way, the likelihood of someone having more
than one type is extremely low!
The type I have is called Hypermobile Ehlers-Danlos Syndrome or hEDS (with a little h and a big
EDS)
hEDS is characterized by hypermobility that affects both large and small joints (I can’t
really show you, is just my arms)
along with soft, smooth, velvety skin that bruises easily, and chronic muscle and bone
pain. It creates faulty connective tissues throughout the body and musculoskeletal issues
which lead to frequent joint subluxations (that’s partial dislocations).
Fun thing, that happens when I open my mouth too wide. Which is every time.
Cool. Partially
dislocating my mouth when I eat.
And then actually dislocations when your arm just pops off. It happens to my right shoulder
a lot, and also my hip.
What's wrong with my right side?
It also created my scoliosis- the double sideways curves in my spine that mean I’m at least
three inches shorter than I should be…
And I’m already 5’9”! So thank goodness my spine is curved or else my wife would have
to stand on her tiptoes to kiss me!
I have the ‘Marfanoid Phenotype’, which describes the type of body I have. It means
my arm span is longer than my height.
And I can wrap my hand around my wrist and do this with my thumb (which I genuinely thought
everyone could do this but apparently not) and I have a small jaw with a high palate.
I’ve had six teeth taken out and braces twice but my teeth are still crowded. It also
apparently makes me ‘giddy’ (which is an actual medical term) and imbalanced- which
explains why I spent the majority of my childhood falling flat on my face.
- honestly, it’s a marvel my nose still sticks out this far from my face.
Oh, and flat feet! Which is why I actually find it much easier to walk in heels than
with no shoes on. Because my feet are floppy and flat they don’t know how to roll and
then lift from the ground.
So yeah plus sides include: an excuse to own an excellent shoe collection, being able to
see over other people in a crowd and my jaw popping out when I open it, which… really
just means I can fit more food in it so yay(!)
Negatives: may have an impact on my heart in the future. I laugh but by body really,
really hurts pretty much ALL of the time, just ALL of the time for no reason. My bones
hurt. Sometimes bones I didn’t even realise I had.
Soft tissue is really everywhere in your body so EDS and the faulty proteins in my tissue
affect every part of me. It’s why I have a side condition called
Postural Orthostatic Tachycardia Syndromme (which I’m going
to leave the link to an explainer video about in the card above) which is a malfunctioning