It's all in the genes baby

kim.rudness
Aug 12, 2021
7 min read

When we were still searching for a diagnosis, I went down the google rabbit hole searching for what our possibilities could look like. Our eye doctor mentioned a metabolic disorder during our initial appointment with him, so I searched for things that checked our boxes. I remember scrolling through and seeing "tay-sachs" but I skipped over it. It wasn't something that I was even considering. Most websites say it's primarily in Ashkenazi Jewish descent or Eastern European Jewish descent- which Adam and I don't have in our family history at all. My mom does a lot of genealogy so I felt pretty confident that we did not need to worry about tay-sachs. There were a few other metabolic disorders that Greyson's symptoms seemed to fit. He checked boxes on a few- some had a scary outcome and some were manageable. In my mind, it had to be manageable. I prayed and prayed and prayed for a child. I have always wanted to be a Mom and I knew from the moment I saw the PREGNANT sign flash on my pregnancy test that this child was going to change our lives. I grew this person, I felt him kick inside of my stomach, I went through child-birth and spent so much time taking care of him. I pumped exclusively for 7+ months, there is NO WAY he had something that was going to cut his life short.

I had no idea what tay-sachs really was before Greyson. I read a small blip about it during my college genetics class but that was it. Now, it's something that is consuming our every day lives. Part of the reason I wanted to do this blog was to help share our story but also educate more people about genetics and tay-sachs. Genetic testing BEFORE we got pregnant could have helped save Grey this fate. All people are likely to be carriers of multiple autosomal recessive genetic conditions and when two people come together and have the same autosomal recessive genetic conditions- they have a 25% chance of having an affected child, 50% chance of having an unaffected carrier child, and 25% of their child not having the gene at all. Genes come in dominant and recessive. For Adam and I, we are both carriers of the tay-sachs gene. So we both passed the recessive gene to Greyson. That means Adam and I each have one dominant and one recessive tay-sach gene because we are unaffected carriers. Which means one of our parents is also a carrier and they passed it on to us and possibly our siblings. It came from our ancestry somewhere, but we happened to come together with Adam and I in our recessive gene. A simple blood test before we got pregnant could have told us that we were carriers of this. Greyson also has blue eyes, which is also a recessive gene. He also has curls, which is a dominant gene. It's insane how things get passed on and what carries through generations going unnoticed.

This is a punnett square that helps to explain the genes. The capital R's are dominant and the lower case r is recessive.

A genetic test prior to my pregnancy was not something that was even offered. I did have the blood test prior to 20 weeks to test for downs syndrome, trisomy 13 & 18 and I thought that was all we really needed to worry about. I did not have any genetic testing done because it wasn't offered or something that even really came up. The 23&me tests are pretty popular now but they only test for common variants, but there are hundreds of other variants that these types of tests miss. There are other genetic testing options available and a lot are covered (or partially) covered by insurance. If you are a carrier of something but your partner is not, you don't need to worry about having an affected child, but they may also be a carrier. If you and your partner are carriers there are options if you do want children. Adam and I are considering if we want to have more children. For us, the options would be to conceive naturally but risk having another child affected with tay-sachs, adoption, IVF, or a sperm/egg donor. Adam and I have talked and the only avenue we would explore, would be IVF. I am not willing to risk having another child affected with tay-sachs. I would not trade Greyson for anything, but if I could keep him safe and take this disease away from him, I would absolutely do that. I can't watch another child go through this, knowing what we know now. So with IVF we would have the embryo genetically tested before implantation to make sure the fetus would not be affected. Even with IVF, it's not a guarantee that you will 1.) have a healthy embryo 2.) get pregnant/have a healthy pregnancy. Nothing is promised. We are still dealing with the "what-ifs". I had a little bit of a rough pregnancy with Greyson so I have a feeling I would get put on bed rest at some point if I were to ever have another baby. I also wasn't able to lift over 10lbs while I was pregnant with Grey. Well Grey is 30lbs. So if I can't lift my child, I can't get pregnant now. I don't want to wait until we lose Grey either, it feels like we are trying to replace him.. and I'm also getting older. It's just so many things to consider. Plus the cost (emotionally, physically, mentally, and actual monetary costs) of IVF.

Tay-sachs has different variants. 1 in 25 Ashkenazi Jews are carriers of tay-sachs. 1 in 50 Irish are carriers. French Canadian and Cajun are also high risk populations. Adam and I are both Irish. On average, 16 babies are born a YEAR in the United States with tay-sachs. Last year (according to google) 3.6million babies were born in 2020 in the US alone. So 16... out of 3.6MILLION babies. To say tay-sachs is rare is a complete understatement. There are 3 forms of tay-sachs. There is the infantile, which is the form Greyson has. The other two are juvenile and late-onset. Juvenile symptoms typically appear between 2-5 years old but it can happen anytime during childhood. Juvenile often presents as clumsiness and incoordination. Juvenile is sadly often fatal like infantile. Late-onset varies drastically. It typically appears sometime between late teenage years to adulthood. Late-onset may also be the clumsiness and incoordination, along with muscle weakness and wasting, along with a lot of other regressions. Late on-set is not always fatal and they may live a typical life expectancy. There is more information on the other two types of tay-sachs here if you want to read more:

That was a lot of information! Grey is doing really well lately. He is still eating everything by mouth and has been so chatty the past few days. He really is the sweetest boy. Adam went golfing last night with one of his friends, so it was just Grey and I. He didn't nap well for Dada while I was at work, and had pool PT, but he was still so happy to have a bath and snuggle after. He ended up going to bed around 8:00 last night. He makes this happy moaning noise when he sleeps. It's so sweet. I had to wake Grey up at 10am this morning. We are trying to get him more on a "routine" but it's so hard. The seizure medications make him sleepy and we just found out that we need to increase his dosage. Grey had a 24 hour EEG done last week and he was still having activity, so they want us to increase his meds. I understand why, but I just hope they don't make him any sleepier then he already is.

Adam and I are also doing well. I went on a quick little shopping trip with my Mom while Adam and my Dad fixed our basement window. My mom and I went to Michael's to pick up some vinyl for my crafting. I'm making a fellow NTSAD Mom a sign for her garden and I need some new fun colors. My Dad got me a nice piece of red cedar and made a beautiful sign for me to put my vinyl on. I'm excited to get crafting later today. Grey is currently napping. Adam is working on the basement window some more. Green Bay has been hit with A LOT of rain the past few weeks and we had some leaking through our basement window. The joys of home ownership :)

I also just wanted to say thank you. I didn't know how this blog would go.. if anyone would actually read it. I've had a lot of people tell me how much they enjoy reading it and being kept up-to-date with what is going on. It was mostly a way for me to work through my emotions and also a place to keep some memories together.. so I'm glad people are actually reading it. I have had a few people reach out and ask how they can help us. We still have our gofundme up and running: (https://www.gofundme.com/f/support-for-kim-adam-and-greyson ), I have a venmo account set up for Grey at @kimrudness. We also have wish-list for Amazon and Target. I have all of this under "ways to help". Even sharing the blog is helping us. The more people we can share our story to, the better. We want to share Greyson with everyone and help future families who are in our shoes one day, or even better.. save someone from being in our shoes.

xoxo,

Kim

Here are pictures from Greyson's most recent EEG, his very first wedding, the hotel from the wedding (in Madison!) and the wood sign pre-design :)