Meet Helena 

Hi, I am Helena. I was born as what seemed a perfectly healthy baby. My mom’s pregnancy  and my birth were unremarkable. I was born full term, weighing 7.1lbs to a healthy mom and dad. I started to breastfeed right at birth and even got a big cheer and wows from my delivery team for doing such a great job as a newborn!

I was a cute happy baby! July 1, 2010.

My first year of life was unremarkable. I reached all my milestones on time and even a bit early. I started to roll over at 1.5 months, sit independently at 5 months, and slept well through the night very much since birth. I had a good appetite.

Turing from back to front and front to back, August 5, 2010.

I said my first words at 11 months and started to walk at 12-13 months. However, just around then, my mom noticed that I did not communicate well. While I was saying words, I did not like asking questions and didn’t use language functionally. I also did not like to carry large objects nor stand up from all fours by balancing only on my feet.

My attempt to say “bottle” at 9 months.

My mom shared her concerns with my doctor but no one else seemed to be worried and she was told to wait and see. She kept pushing for more evaluations and some months later, I was approved to receive early intervention.

Walking all by myself! July 14, 2011

From that point, I kept developing but slowly and at the age of 16 months, had my first seizure, which was followed by a cluster of seizures lasting over 1.5 years. 

During that time, I was in and out of hospital and doctors tried different medications to find a way to stop my seizures. They were not successful and I was sent home while still having multiple seizures daily. The doctors said that there is nothing they can do and there is no cure nor effective treatment, and my mom and dad have to find a way to keep me as comfortable as possible.

Walking my friends dog proudly, 2013.

By the age of 2, I had experienced over 1000s seizures and tried about 10 different seizure medications with no success.

Then suddenly, with no changes in meds, my seizures stopped at age of 3 and I didn’t experience a single seizure for the next 5 years. Then they resurfaced in 2018 lasting for over a year, then again in February 2022.

In 2014, the doctors found an answer to my illness. I have an ultra rare genetic disorder – a mutation in the SMC1A gene. There are roughly 100 other girls world wide with this genetic mutation. The error in this gene makes me have seizures, but more importantly, it interferes with my development and learning and that bothers me much more than seizures.

I’ve loved books since day one. Sandra Boynton was my fave but I still enjoy her books occationally.

Because of this condition, I’m unable to focus, pay attention, and perceive and process information from my environment. 

You could picture this . . .  The life and world around us is like us watching a movie. We see objects, concepts, characters, storylines. We hear sounds, conversations, characters talking and interacting with their environment, and so on. 

To me life is like watching a poor quality movie that’s constantly interrupted by extra noise, fuzzy images, cut out volume, blank scenes, inconsistent subtitles, and so on – that’s how I am perceiving life around me. 

For that reason, everything that’s effortless for you like answering a question and talking, playing a game, or reading a book – is hard for me. 

And while you are able to learn basic skills in life with only a little bit of practice, I need to work more intensely before I even get to be somewhat adequate. 

My harmonica performance. 2014.

What makes learning even more complex is that the standard default learning techniques and materials you use, are not adapted to my needs. For instance, you may be able to read any book or print in your environment, but I need a larger clear neat print and space between words to be able to see what’s written.

Writing text this way,  eliminates some of the challenges I have when “watching my movie” and I can actually focus on the text and content.  

Sadly, not everything in the world is modified this way and I miss out a lot from the world around me.

Im really good at singing, 2014.

In addition to learning issues, I have sensory integration needs. That means I get overwhelmed by things and environments that do not bother you. For instance, overcrowded places, loud noises, bright sun and heat, extensive sitting or standing, flashing lights on screens, and so many other situations make me feel like I have restless leg syndrome all over my body, or it feels like ants are all over me but I am not allowed to scratch or move. 

There are also things that cause me anxiety and loads of stress and have severe impact on my emotional well being  – chaotic environments, disruptive behaviors, unfamiliar routines, unexplained changes  in my schedule, pressure from adults and peers when they expect me to do things that I am unable to. Please keep me safe and away from all the above.

And there is more. Some situations that are easy and natural for you can give me tremendous anxiety. For instance, it is easy for you to make eye contact with a friend but for me, it is uncomfortable and even frightening. I also often feel overly shy because I know you all can talk better than I. And I am often hesitant how you’ll respond to me. So I’d rather look away and try not to interact.

Fun climbing at playground. 2016

New and unfamiliar people, teachers, kids, can also cause me such anxiety and stress. It is already hard for me to talk to people I know, just imagine how much harder it is for me to talk to people I meet for the first time. This gets even more challenging because people and kids who don’t know me often ask me questions that I’m unable to understand or answer, or ask me to do things I’m simply not capable of.

In these situations, when I do not respond or comply, they tend to raise their voice, get very close to my face and repeat their question over and over again. That is terrifying and I’m really frightened. Please do not do that to me.

Sometimes adults like to greet me this way too. Instead of just saying “hi” like they would to any person, they tend to come very close to my face and say “hi” in a loud voice above conversational level. This is very strange – please do not do that.

As you see, it is a big challenge to live with this condition every single day.

My dad really was my favorite. My mom and I miss him very much. We think about him evrey day.

When it comes to seizures, I usually get a lot of attention during the time I have them. It is understandable because seizures look scary and unpleasant. My body can take an abnormal shape, become stiff, and shake. I may make unusual scary sounds, or even wet myself. It is extremely embarrassing and not a good picture to see. 

And since seizures are so terrifying, people often think they are life threatening and require immediate medical intervention. 

Don’t get me wrong, some seizures can be life threatening, especially the ones that last over 5 min, but that has never happened to me in my lifetime. My seizures may become life threatening only when I have a great number of them very close together but that won’t happen to me at school. And in this case, I seek help from my medical team. 

What is dangerous about my seizures is that I can hurt myself if I fall during the seizure, or after.

UCSF, hospitalized due to seizures, 2022.

Seizures make me nauseous, sleepy, and give me a headache. And I need to lay down after having one to regain my ability to function. The best support you can offer is to ensure I am comfortable and have a comfortable guiet private place to lay down and rest.

And while epilepsy is a devastating condition to live with and I appreciate all the care I receive during my seizure time, the attention, care, and support I receive the days I don’t have seizures, is much more significant and important to me. 

I hope you’ll be very supportive. I appreciate all your care and thank you for that.

Showing off my reading skills at age of 6. FSK Elementary – Kinder.

Sometimes I may get so overwhelmed that I vocalize, protest verbally, become very wiggly, or do something that does not seem appropriate. This is the time I feel ants crawling all over my body and I am not allowed to scratch – try to keep in mind how uncomfortable I am at this time. It could also be because I’m asked to do something that’s intolerable. 

During that time, you can give me space, or direct me to a quiet area where I can calm down. When I am in the guiet area, you can read me a book or do a puzzle with me.  I love interlocking wooden puzzles. You can also walk with me around the school yard or take me to a calm area like the library and read me my favorite books.

And remember, when you interact with me, stay calm, be patient, and keep things simple. Often the things mentioned above will work, sometimes they may not, and sometimes you may discover new ways to engage with me. Either way, I thank you for treating me with respect and kindness every day. This really is the biggest support you can provide.

Learning Time, Gratttan Elementary, December 2017.

Unfortunately, when it comes to treatment for my disease, the medical community has not made progress. There is no effective treatment or cure. There is no research because the government does not want to fund science for illnesses that affect only a small number of people. And unfortunately, raising funds for research relies on my mom and other parents whose kids are affected. 

Above all in this world, I wish my SMC1A gene would work like yours and I’d be able to communicate effectively with those around me, and learn and pick up skills as easily as you do. I am thankful for all the people who have helped me learn and who care for me each and every day, and I hope you’ll never give up on me.