How to live NORMALLY with a rare genetic disorder

Good morning, lovely dreamers, and welcome to another lifestyle and life hacks blog post! Today’s blog post is going to be a bit different than what we’ve done so far, and what’s to come, of course, because it’s one of those things that are most difficult to explain and/or talk about.

But let’s start from the beginning.

About 6 years ago now, while we were still living in Scotland, something strange happened to me and Andy.

We were watching 2 Fast 2 Furious on our new Xbox because we missed it and we were having a quiet weekend night in when I basically fell asleep. Or so I thought…

What happened next, in my mind is still like a very strange dream, with flashes of strange images. I saw a middle-aged man with glasses in my bedroom trying to get me out of bed and walk, I saw the door from the inside, and the outside, I saw the front entrance of our apartment building, I saw the ambulance, and then the front entrance from the ambulance.

Then nothing. 

In the hospital, again, flashes and flashes. But I do remember something interesting. I was speaking perfectly in English, even though I was mostly out of it. You see, English is not my native language, or how I like to say, my default language, so at least I’m proud I didn’t embarrass myself that badly then (or so I hope).   

I remember Andy’s face when I first saw him. He was so pale and so scared, he actually thought I had some strange form of food poisoning or something, because of how bad my body reacted when this started. Again, I was completely out of it, so I don’t remember what the hell happened.

After having countless tests done on me, and a CT scan that said that something strange was happening in my brain... and a night in the hospital with Andy barely breathing, and not sleeping, because he was so worried about me, we only had more and more questions. Was it a tumour? Was it genetic? How bad was it? Was I going to die in 7 days?  We had no idea, and no one would tell us anything.

Fast forward almost 3 months later, I had an MRI scan to go with my initial CT scan and getting that MRI, well let me tell you, that’s an experience. Have you ever seen House MD? That’s what this reminds me of.

Here’s what happens. 

They inject you with this contrast solution that makes the inside of your mouth taste like metal for the next couple of days, and you have to basically stay still in this machine that makes some weird-ass loud noises for quite some time (like 45 minutes or so). If you’re claustrophobic you’re screwed!

Fast forward again, another 2 months later, we finally met with a neurologist who wanted to sit us down and explain to us what the hell had happened to me almost 6 months prior to that point, and what were our options for the future.

When we met, he was so surprised, he actually thought he had someone else’s file for a moment.

You see, he explained that the seizure that I had, was not just a simple fit that might happen to anyone in a lifetime, because of various reasons. That seizure was because of something else. Something that was so rare, he only read about it in books. 

At that moment, both Andy and I fell silent. 

A million questions started racing through our minds. What the hell was it? Is it treatable? If it’s so rare, then it’s clear that I’ll die without ever getting cured, so what will we do? We’re so far away from family and loved ones, what the hell are we going to do? How am I going to tell this to my family? Will I be able to work, travel, live my life as a normal person?... and so many more.

Then the doctor explained that I had something called subependymal grey matter heterotopia, also known as periventricular heterotopia, and it’s basically a super rare genetic disorder in which the brain is formed differently than a brain of a normal person. 

The simple explanation is this: When in the womb of the mother if there is enough lactic and folic acid, the neurons and the neural links form as they should. They start in the middle and all migrate to the edges. For the scientific explanation, please check Radiopaedia’s article about it. 

In my case, I have more than a few that remained in the middle, and the doctor was so amazed, because, as he puts it, I should have had other bigger problems in my life: development issues, talking, speaking and even walking problems.

Fortunately, this is not my case. 

I was a straight-A student almost all of my life, I’m fluent in several languages since I was a child, I was a ballerina and a dancer for most of my childhood and through my teen years. 

But I do have something that started when I was in high school but never gave it much thought, I just blamed it on the heat, because it manifested only in the summertime. I used to faint like once a year in random places. Now I know that, apparently, I had a different type of seizure. And my epilepsy developed now, because of my rare genetic condition.

Since that moment 3 years ago when I had my first epileptic seizure, I’ve had 14 others, totally at random, and they can happen at any time of the day or night, no matter what I do. 

This is why I’m not allowed to drive, climb ladders (or climb anything really), cook unsupervised, bathe unsupervised, stress and even get tired. The fact that I’m a woman and shark week comes around once per month is not helping either, because some of my epileptic seizures happened during or after that week. 

The worst thing is that I have to stop eating dark chocolate, no more alcohol, dial down on cinnamon, ginger, green tea, English breakfast tea and basically anything that is a brain stimulator. 

Having so many restrictions is actually causing me stress, and round and round we go.

But we didn’t stop there.

Because we had to come back to Transylvania to take care of some family matters, we wanted to learn more about my condition as well, and we spoke to a couple of other doctors from other countries, just so we can learn more. 

One thing is for sure. I am a medical unicorn. Saying this sounds like I’m bragging all the time, and it’s not my intention.

You see, I was afraid and embarrassed for so long, but now I want to share my story, and maybe help others share theirs. I want to help normalize epilepsy and other disorders that may make people feel like they are less because I two feel that as well... and often.

You can live like a normal person, or even better if you play your cards right, in spite of all your problems.

But enough with the looong chit-chatting! Let’s get to it!

How can you live a normal life when you have a rare genetic disorder?

Now that you know why I had to share my super long story with you, let’s get into the important stuff. Conquering this madness and making a damn good lemonade with life's lemons.

Develop a healthy lifestyle

Eating healthy, exercising regularly and drinking a lot of water is not just good advice for “normal” people. Having a health issue like this also comes with “bonuses”, which may include even the liver and other vital organs not functioning properly, so you might want to be careful with what you put inside your body.

I’m not saying to go vegan or follow a strict diet like keto if that’s not for you.

I love cooking, and 90% of my life I’ve cooked the meals that I and my family eat, so I know what goes into my food, and how healthy/unhealthy it is. Yes, it’s not always steamed veggies and low carb, but I tend to maintain a balance. Find your balance!  

Keep a journal/ start a blog

What helped me deal with my insecurities and crazy messed up brain (see what I did there?) was the fact that I shut down that little voice in my head that said “You're not good enough, no one will ever listen to you”. 

How did I do it? Simple. I started this blog. 

While giving advice to others, I was giving advice to myself sometimes, and overall improving my lifestyle. This is one of the reasons why blogging is so important. 

It will open you up to new possibilities, new professions (writing, proofreading, social media management, virtual assistant, web developer, coach - just to name a few), and it will help you provide an income, like a normal person. Simply because you are able to work from home. 

Related:

1. Can you make money blogging without blogging about blogging?
2. July 2017 Income Report: How we made our first 260.56$ blogging
3. How to Start a Money Making Blog from your bed in 7 Steps

Continue to learn 

Having a health problem, any problem, not just late developed epilepsy, means that you should educate yourself on the matter. Read about it online, ask your doctors about it, try to find out as much info as you can, so you know what to do, what not to do, but most importantly, how to take better care of yourself.

Study yourself. 

In my case, for example, I’m very careful to write down in a seizure journal every incident I have. When it happened, what was I doing at that time, how was my health, was I stressed, tired, shark week?

Knowing details like these will help you understand your triggers, and help you be more prepared, so you don’t injure yourself while being out of it, or prevent seizures in the future. 

Find your support system

Having someone that you love and trust be there for you is MAJOR when it comes to something as delicate as this. It’s not just the physical help they might give you if an event like a seizure happens, it’s more about having someone to talk to.

They might not fully understand what you’re going through, but they sure are there for you. Find them. And be honest with them (also, make sure to show them your appreciation). 

Everything in moderation

I want to say that I’ve completely given up bad habits, or sweet treats like dark chocolate since we found out about my genetic disorder, but I would be lying, and that’s not something I want to do, especially to you.

In my experience, I found out it’s okay to eat a small amount of chocolate every now and then BUT I make sure it’s Kinder, and that my eating habits and overall health is in good shape at that time. The same goes for a glass of wine now and then. 

But don’t take my word for it. If you know those might be seizure triggers for you, please do not under any circumstance do as I do. Always talk to your doctors.

Meditate, sleep, rest

Make sure to take enough breaks during the day as you need and find activities that calm your mind down. Oftentimes the biggest trigger of any issue is either stress or tiredness.

Try to create a healthy resting schedule, so that you avoid complications in the long run, not just now. 

To help monitor your lifestyle, invest in something like a SmartWatch or a Fitness Band. It will help you understand what you do, and what needs to be changed in your lifestyle.

Can’t work? Find alternative ways of making money 

A big problem for most of us with random epileptic seizures is that we can’t have a “normal” job, like other people, so we tend to fall into two categories: a. the ones that sit at home and wait for a monthly benefits check, or b. the ones that try to make something of themselves.

From experience I can tell you that there are at least 5 side hustles that you can start today to generate enough money to replace a paycheck from a job, and you can do them all from the comfort and safety of your home:

• Can you write? Then start a blog, write ebooks, stories, articles as a freelancer
• Can you draw/design something? Then create designs and sell them on Etsy, Amazon Merch, Creative Market, or offer you services on sites like Fiverr.
• Do you know web design/web development? Create blog themes and sell them on Theme Forest, freelance on Fiverr, or start your own business!

What else do you know/ or can do? Tap into your knowledge box and see what you can come up with. Don’t let yourself be labelled as a “disabled” person if you don’t want to be. 

Remember: You are the master of your life, not your disability.  

Aaaaand that’s all for today, lovely dreamers! Phew! This was a long one! But hey, if you enjoyed our ideas on how to live normally with a rare genetic disorder, please make sure to share it, pin it, tweet it! So this reaches the right people.

And if you would like to help us in helping others, we started a GIVE campaign through buymeacoffe.com, so that every time you donate more than 1 cup, half of the donation will go to one of the charities that are close to our hearts: Cancer Research, Cancer Research UK, Epilepsy Action or PVNH Support. For more info on that, make sure to check our GIVE page.

QOTD: Do you know anyone with epilepsy?