Resources for TK2d and mitochondrial diseases

Intro card: Meet Jared, who lives with thymidine kinase 2 deficiency (TK2d)

Title card: Jared communicates with an augmentative and alternative communication device due to TK2d symptoms.

Title card: Jared was diagnosed with TK2d when he was 2 and a half years old

Super: Thymidine kinase deficiency type 2 (TK2d) is a genetic mitochondrial disorder. Jared: My name is Jared, and I am an aspiring science fiction writer. I live with TK2d, an ultra-rare mitochondrial disease. There are still a lot of things I want to do in my life, and my disability is an obstacle I work around. Sometimes I think that people forget that disabled people are full and complex human beings. Our disabilities are only part of our identities. We have the same fears and desires as anyone else. In school I studied and took exams and stressed about grades like anyone else. I had friends and secret crushes, and I played video games and went to prom. I debated on which college I should go to, and I had to maintain a high enough GPA to keep my scholarships. I got my Masters in Quantum Mechanics, and I wrote my thesis on Quantum Chaos. I chose that topic because I thought it was interesting, and I'm good at the math involved. I was best man at my brother's wedding, and I'm godfather to his son, Connor. I won't pretend my life is perfect, or that I don't face challenges and deal with mental health problems. Almost every problem I have - breathing, communicating, mobility, etc. - is a direct result of myopathy. My mobility issues are relatively easy to deal with, and I see a psychologist, but things become very difficult when you can't communicate and have difficulty breathing. Words can't describe how horrible it is when you try to take a breath and don't quite get enough air, and then it just gets worse with each passing day. I know my experience isn't unique. I have friends who have been living with TK2d since they were young, too. But for the most part, I'm glad to be alive.

Title card: Jared's outlook

Jared: Small successes can be life-changing for us. They let us know that our best days may still be waiting for us in the future instead of fading away in the past. They give us a reason to keep going.

Title card: together, we have the power to take on TK2d

Intro card: Meet Connie, who lives with thymidine kinase 2 deficiency (TK2d)

Title card: Connie communicates with an augmentative and alternative communication device due to TK2d symptoms.

Title card: Connie is 27 years old

Super: Thymidine kinase deficiency type 2 (TK2d) is a genetic mitochondrial disorder.

Connie: Hi, my name is Connie Morales, and I have a mitochondrial disease known as TK2d. It is a primary mitochondrial myopathy, meaning that it causes muscle weakness. I am an aspiring author and freelance writer with a plan to self-publish a book one day.

Title card: When I write, I am no longer an anomaly or restricted by the labels others give me.

Connie: When I write, I am no longer an anomaly or restricted by the labels others give me.

Title card: Instead, I'm empowered to reclaim my narrative by taking back autonomy over my hopes and needs.

Connie: Instead, I'm empowered to reclaim my narrative by taking back autonomy over my hopes and needs.

Title card: Writing will forever be my happy place.

Connie: Writing will forever be my happy place.

Title card: Being seen as a person, not a patient

Title card: explaining TK2d to others

Connie: When it comes to explaining TK2d to others, I can understand how it sounds a bit complex, especially if it's the first time they've ever heard of it.

Title card: I usually try to connect it to something more relatable.

Connie: I usually try to connect it to something more relatable.

Title card: Sometimes I tell younger kids that I'm secretly a mermaid and that being out of water makes my body tired.

Connie: Sometimes I tell younger kids that I'm secretly a mermaid and that being out of water makes my body tired.

Title card: Not better, not worse, just different

Connie: TK2d may make my body weaker at certain things, but all that means is that I need different types of support than others. Not better, not worse, just different. Some use a fork and spoon to eat, I use a feeding tube. Some use legs to get where they need to go, I use wheels. I have a ventilator which controls the pacing of my breathing, so I may not be able to speak as clearly or as quickly as I want. All that means is I need a little bit of patience. In fact, almost everyone catches on to my accent after a little while.

Title card: Needing alternative forms of help doesn't take away my mind, feelings, wants, voice, free will, or the chance of a fulfilling life.

Connie: Needing alternative forms of help doesn't take away my mind, feelings, wants, voice, free will, or the chance of a fulfilling life.

Title card: society's perception of who I am versus who I actually am

Connie: However, being able to exercise these things is largely dependent on the lens people perceive me through. The heaviest weight I bear is the incongruence that exists between society's perception of who I am versus who I actually am.

Title card: mistaken as emotional numbness

Connie: Due to muscle weakness, I'm very much lacking in the facial expression department, which is sometimes mistaken as emotional numbness. But this notion that I am a passive bystander with no goals, ambitions, or dreams is completely invalid. I have a strong sense of awareness and independence.

Title card: I want the same things as many others

Connie: I want the same things as many others. I hope to build a career I love, have opportunities to travel, explore, make friends, maybe find love, and raise a family one day.

Title card: Connie's advice for others

Title card: you are your own best advocate

Connie: That being said, a key piece of advice I'd give to those navigating the maze that is primary mitochondrial myopathy is that you are your own best advocate. Never be afraid to speak up for what you know is best for you. While your medical team, family, friends, and other members of your support group have their hearts in the right place, they may not see beyond a fraction of what your everyday is like.

Title card: Only you know what you need, and you deserve to be heard, so please, use your voice and make yourself known.

Connie: Only you know what you need, and you deserve to be heard, so please, use your voice and make yourself known.

Title card: A positive life and a positive impact

Title card: Overall, I want to make a positive and lasting impact on the world.

Connie: Overall, I want to make a positive and lasting impact on the world.

Title card: While I may not have the smoothest path to reach these goals, I do have one, and I am here.

Connie: While I may not have the smoothest path to reach these goals, I do have one, and I am here.

Title card: together, we have the power to take on TK2d