Mia was born on September 18th, 2019. She was a bundle of joy as soon as she came out of the womb, and were all very happy and couldn't wait to take her home. However, that's when we were hit with a tragic truth: That she was born with GM2 Gangliosidosis, or Tay Sachs disease, a rare genetic disorder that is detrimental to anyone who gets it

Tay Sachs disease is where nerve cells in the brain and spinal cord die, resulting in many bodies deforms and eventually death not long into childhood. It causes a total shutdown of the body, as it restricts movement, swallowing, breathing, and other necessary body functions. It was all hard to wrap my head around when the doctors explained it, but at least these symptoms do not start developing for another 3 to 6 months, so we got to take her home from the hospital today.

I was understandably confused about how this all worked because no one else that I know in my family had ever had this disease! I ended up going up to my teacher after class the next day and asked her about it, and she explained that this disease is caused by inheritance. She explained a possible way my sister could have got it, which is that the gene had been passed down for generations in my family but had never should itself because it was recessive until my mother married my father, who must have the gene as well. This led to the possibility of my sister being recessive for the gene, which is what happened.

This means that someone long ago in my family line had the gene for this disease, but was a carrier for it, and it kept getting passed on through the women of my family until it finally was shown because Mia was born with two recessive genes

  TT

   Tt

    T

  T      Tt       tt

     T        t

Once she was about 4 months old, we started to see the first symptoms. The first wave of symptoms include things like muscle weakness and she stops developing on a regular timetable for a baby, even regressing in areas like crawling and any basic movement. The doctors told us that more symptoms will be coming soon as well, like muscle twitches, seizures, difficulty swallowing and breathing, loss of vision and hearing, and loss of intellect. They expect her to make it to 5 years old, but they really do not know, and that is the scary part.

A couple of years later, my teacher learned about the disease my sister had, and decided to do a lesson on it to let the other kids know about this disease. We took a deep dive into the disease, and I even learned some things about it I did not know. We learned that there are certain groups that are at a higher risk than others for the disease because how the disease orginated. These groups include the Eastern and Central European Jews, Groups of French Canadians in Quebec, the Cajan community of Louisana, and the Old Order Amish community of Pennsylvania. This was just one of the things we learned, and it was great for me to get a better grasp on what my sister is dealing with, especially since it was not looking good for her at this time.

My teacher also talked to us about how many people are affected by this disease in the US and the World. She said that there are accurate numbers of how many people get affected each by Tay Sachs disease in America, which is about 16 people. There are not as accurate numbers pertaining to how many people get it in the world per year, but they do know that about 1 in every 27 people carry the gene. This goes to show how rare the disease is, and how unfortunate Mia was to get it.

About 1 in 27 people carry the gene, which means that the odds to find another person carrying the gene and then have a child with the disease are very low, which is why the disease is so rare.

Around the time of the lesson, Mia's symptoms started to hit the breaking point, as she had been in the hospital being monitored for a long time, but the pain of the symptoms had now become too much. She's about 3 and a half now, and the life expectancy of people with this disease is about 5 years, so she still has time, and I think she will be able to live for a while longer. The medicine should keep the symptoms relatively tame for now, but because there is no known treatment for the disease, there is nothing else they can do. All we can do is deeply value the time we have with her

Thinking it over it now years later every night before I sleep, I think about how much of a regular kid she wanted to be, but she could never truly convey her thoughts and emotions to us as she got older. She also had so many things to worry about when I look back at it, from all the medication she had to take to the devices she had as well like her feeding tube and her breathing machine. Even through all this, I loved her very much, and greatly enjoyed the good days she had of her childhood. Mia was a special girl, but this disease had other plans, and I hope that someday we can find a way to cure this one, so no family has to go through what we did and lose a loved one forever.