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  • Hello lovely people, today were going to be answering that age old question: “what’s

  • wrong with you, Jessica?” If youve seen my ‘I was misdiagnosedvideo, youll

  • know that I now have a better idea of what that actually is!

  • Many, many years ago I made a video calledmy disabilitiesthat 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 wordrheumatologyinto videos all the time like it’s as common

  • as the wordegg

  • 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 EDSand I made friends with EDS

  • who said “I think you have EDSso I went to a new rheumatologist who saidyou 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 paintingit 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 asyou 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 theyre 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 youll 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 youre 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 fineif 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 untilyou find out you have

  • EDS. For instance I’ve always been allergic to random things: trees, wool, rabbits, grass,

  • cats, dogs, glitter, caterpillarsaloe verato 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 andneeding 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 theallergensdon’t have to be obvious things like animals or insect stings-

  • exercise or high emotions can also trigger an immune response.

  • - I meanused to tell my gym teacher I was allergic to exerciseturns 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

  • theyre 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 theMarfanoid 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 megiddy’ (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, whichreally

  • 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