01. The hat of being a disabled person – part I

A story about me discovering the scientific base of my disability

To start off this series, I decided to begin with my disability-hat. This hat is a bit of a special hat, mainly because it’s not a very common one and most people dont dare to ask about it, so I decided I take the first step ;-).

It’s a hat that I did not choose myself, but it was given to me by biology, mother nature if you want so. In a way, I think that sounds beautiful: it was a 50% chance for me to get this gift of nature, inherited through my dad.

Let me start with the medical specifications first.

What I have is a form of ectrodactyly, a limb dissability, it’s also called Split-Hand and -Foot Malformation (SHFM). And in my family’s case it concerns hand and feet, we have differently shaped fingers and toes. For me that means I have five differently looking fingers on my left hand and 3.3 differently looking fingers on my right hand. My sister & dad have three fingers on each hand and we all have only two toes, a big toe and a small toe on each foot. Just because it might be difficult for you to imagine that, I share with you pictures of my hands here:

Now let’s dive more into the scientific part, which is quite an interesting story of my life. As I mentioned before, there was a 50% chance to get it, meaning it is a dominant mutation: if you get the mutated gene, its healthy copy cannot rebalance it & the disease is expressed, or like in my case: I get differently shaped fingers like my dad, instead of 10 normally shaped fingers like my mom.

That could be it for the science, but it’s not ;-).

Jumping to highschool times, I choose to have advanced biology and art classes in my last years. We were supposed to compile a more extensive exam work and I picked my biology class for that. We had the option to do a theoretical piece or a practical one. I choose to do something practical as I was generally more drawn to that.

Then was the question, what should I do? I didn’t really want to grow fruit flies and do experiments on them, so I asked my biology teacher if I could use myself as the experimental object & investigate the disability that runs in my family. She agreed to it & I got going, made all kinds of huge plans, the biggest one was to find out which mutation on our DNA causes the disability we have!

I started with my research going through all kinds of old family files of x-rays, pre- and post-OP pictures, asked my mom & read stuffs on the internet. In my efforts I found a lab that worked on this disability and it was located in Cologne, where I was living! You can’t imagine how happy that made me! I immediately thought I will go there & ask the researchers for help in solving this riddle of my disability-hat.

I contacted them & we agreed to a meeting & my mom helped me to get there as she was working at the same location in the university clinics. Otherwise, having a super nervous 17-year old teenager walking the halls of a university clinics, to find a research lab to discover the reason for her disability-hat could have ended funny :-D.

To not make it too exciting for you: my plans and dreams got completely shattered in that meeting :-(.

The professor made it clear to me that within the timeframe & possibilities I had, it was impossible to find out the exact mutation running in my family. I was super sad & disappointed, I had such big hopes! But he was so great, gave me all kinds of materials and brochures that I incorporated & worked into my mini-highschool thesis.

I actually also made my first scientific illustrations by tracing mine and my sisters x-ray pictures on the windows of my childhood bedroom. Overall, I delivered a great thesis, I got an A+, the best grade I could get & it made me so happy, mainly because it was so close to my heart.

Plot-twist is coming soon ;-).

When finishing highscool, I thought about what to do afterwards. I loved art and I loved biology & science. It was impossible for me to imagine myself drawing digitally (…funny enough thats what I earn my living with now :-D)… & I had a rather doomy-gloomy view of what it meant to be an artist, so I choose to wear the biologist-hat instead. Before studies started, I had some time for vacations and another special plan…

I had kept in mind what the professor told me was needed to solve the riddle of my family’s disability-hat and now that I got into my biology studies, I thought it would be great to do an internship in a lab, to see if I enjoy labwork. Sooo, I contacted them & asked if they would take me in as an intern for seven weeks & if I could work on the disability running in my family. They said YES!!! I was beyond happy & excited! You cannot even imagine!

They gave me all the materials I needed, as it was necessary to get blood samples from my family members and when we went for vacations to Poland, I took everything with me. I also talked to my family members before & explained my plan to them & whose blood samples I would need.

Obviously mine, my sisters, my parents, my grandparents, also my aunts and those of another farther related aunt and her daughter who also had the same disability-hat. I needed people from my family with it and also those without it, so I had a genetic comparison to make a proper analysis and phylogenetic tree. Luckily one of my aunts was a paramedic, so she drew all the blood from my family members for me & I just took the samples back to Germany.

All but one family member agreed to participate in this experiment. Even my grandpa and my grandma were okay to join, only my dad refused to give his blood to be analyzed. Quite a crucial sample missing, but as I had mine and my sisters blood & our grandpas, who we inherited it from through my dad, it was not such a big deal, at least scientifically speaking.

It actually meant much more on a non-scientific level. Several people tried to convince my dad, made jokes about it or ridiculed his decision, trying to guilt-trip him into agreeing to it, as me, his daughter, was doing this great experiment & how dared he did not want to participate in it. I accepted it & didn’t blame him.

My dad has always had a problem with the fact that he is disabled, he also had a very bad conscience that he passed it on to my sister and me. Even though we did never mind, and we still have no issues with it. We mainly don’t care about it. But for him its different, he still feels embarrassed about his hands and feet, he can’t handle well when my sister and me are barefoot & other people see it… all kinds of things.

So, of course he wouldn’t participate in this experiment to give his blood & have it analyzed to prove even more so, that he is the one to be blamed for this misery… obviously, this is me paraphrasing now what might have been happening in his mind about this topic. Cos I love my dad, no matter what and how he thinks, I know he loves me too :-).

Interestingly enough, my dad always was the most artistic person ever. He was the main set designer in the opera in Cologne, he painted, sculpted, carved, formed, drew and whatever else was needed, better than any ten-fingered person could do it.

Did it matter that everyone admired his skills? No. Whatever was sitting inside of him had the power over any achievement he could have ever accomplished. It’s a lesson I learned and still have to actively work on: what is inside of me will always overrule what others think, no matter what.

In any way, I got side-tracked :D… I got my blood samples, I went back to the lab, learned to extract DNA from blood, how to conserve it, design primers, do PCRs, run polymerase gels, analyze sequencing results and finally find the deletion on Chromosome three that lead to this special hat I am wearing now, my disability-hat.

I finally solved my highschool dream and learned that I truly loved to work in the lab, solving riddles and getting excited about science and nature, all at once!

These days, its not uncommon to just order a kit from a company and get your genome analyzed, but when I was doing these experiments, it was almost 20 years ago and these technologies we're not available for everyone to access back then. It’s fascinating what and how science and technology develops.

This was the first part of the story around my disability-hat and it turned out so long, that I felt to split it up into two parts. There is much more to it than all the medical definitions and the scientific groundwork I described today:

we are people, human beings, with emotions and feelings, growing up in a society with hundreds of thousands of other people around us and being disabled brings many more other challenges with it. If you want to know more, stay tuned for the second part next week :)

Love,
Daria

Wonderings:

Do you wear a disability-hat or know someone who does?

How do you feel about it?