Time just flies

It's been over a month since I've posted. It's been a long month. School has been picking up and I've been back at work trying to balance everything. It's been a rollercoaster, which feels like how my life will be for a long time. Some days I'm ok, some days I am anything but.

On February 15th I had the opportunity to speak to the FDA with NTSAD regarding my experience with Tay-Sachs and share a small piece of Greyson's story with them. I think it's so important to share our story so people can see the faces behind the diseases and the family it impacts. I was so lucky to be on one of the parent panels and was able to give a small snippet into our lives and the reality of Tay-Sachs and rare diseases.

If you want to watch the whole meeting you can here:

click here to watch

The parents of infantile GM2 begins around the 1:01 mark. It beings with Maddie's Mom and my parent panel begins at the 1:30:45 mark. They also speak with adults who are affected by GM2. GM2 encompasses Sandhoff and Tay-Sachs. I think I've shared about this previously, but there are three types of GM2. There is infantile (which Greyson had), juvenile, and Late Onset. The type of mutation the parents carry is the determining factor to which form the child will have.

As I sat at my desk waiting to do this panel, I was thinking of how much Greyson changed my life. I was able to become pregnant and carry him for 33 weeks. I became a mother. I became a boy Mom, a NICU Mom, and an advocate the moment he was born. I gained all my best titles that day. I became his safe space. I was petrified but also knew I would do anything for this tiny 4lb7oz little boy the moment I saw the two pink lines on that test. My world shifted the day he was born. It shifted the first time I heard him say "Mom". I had to navigate the healthcare system while we were trying to find an answer to why our baby boy was regressing. I learned how to use my voice to speak up for him and to not take no for an answer. Their "no" or "I don't know"s weren't good enough. My heart was shattered the day we got our diagnosis. I slowly rebuilt it until it tore again the day he passed. I knew I had to do something bigger with my life, because of him. Nursing school is a huge step, but I know it doesn't just end there for me. I want to help advocate for families. I want to help families in their journey and make sure they understand you do not need to face this world alone.

My entire "office" is photos of Greyson and artwork from other NTSAD kids. My constant reminders of why I am 35 years old, back in college, and studying my ass off. I am not the same person I was when I got my first degree and I'm a lot more tired now, but I love knowing I'm doing this for the best reason.

Everything I do in this life, is for you, my son. I will never stop sharing you

and telling your story.

Adam's sister, Courtney is a traveling surgical tech and has been working in Michigan. Thankfully it's not THAT far of a drive and she still comes home on some weekends. We decided this time around that when she's home we need to do something FUN and something out of the house. We always seem to say we "want" to do something but we never get out and do it. So we are changing that. The first weekend she was back we went and threw darts at one of our favorite local bars and then went axe throwing. It was a blast!! Courtney kicked our butts at axe throwing too- the first photo was the "kill shot" where she had to throw the axe and hit that blue dot - she was the only one of us to make it!!

The following weekend she came home again and we went glow bowling! I am NOT a bowler.. I suck to put it nicely. I decided to have some drinks and just give 'er. We had so much fun and the alley was playing 90s and 2000s music- it was perfection!

Courtney poses with her OWN bowling shoes and ball and a fancy carrying case. The next day Adam and I were a little under the weather with the self-inflicted flu - so it was a snuggle day for us with Millie.

A few weeks ago, I also started meeting with a nutritionist. I've been a little closed off with our IVF journey just because there really hasn't been much to say yet. In order for us to do IVF, our clinic requires my BMI to be below a certain threshold and I'm not there yet. I started hitting the gym more frequently but it's still slow moving. I'll be honest, I'm frustrated so I decided to see a nutritionist to help me so that I can make smarter food choices and stop the fad diets. I've done keto, I've tried weight watchers, but I want to find something that works FOR ME. I have PCOS and I know part of having PCOS is dealing with weight gain and stubborn weight. My body doesn't process food the same way as someone who doesn't have PCOS. My blood sugar is within normal limits but I think I do have some insulin resistance because of my PCOS. I hold on to my excess glucose (carbs!) more than I should and my body doesn't process them properly.

As far as IVF goes- we have had our genetic probe made. The probe is what will be used to test our embryos for Tay-Sachs. They took blood sample from Adam, myself, and they were able to get a blood sample from Greyson's initial diagnosis blood to use.

This part freaked me out a little bit. I had no idea that his blood was still in the lab somewhere. Not that I want it back or want it for anything, but it just felt like a piece of our baby was out there and I should know about it. When the geneticist called to tell me there were able to secure Grey's blood, it felt like a punch to the gut. I can't really explain it, but I felt a little violated. His body stopped producing blood over a year ago. His little body should still be here and I should be putting Band-Aids on his knees from scraping them while playing outside. They shouldn't have it in some cold, sterile lab. There is part of the rollercoaster. It's his blood.. it's not him. It was a sample they took from him back in 2021. Before we had any idea what Tay-Sachs was or how it would change our entire lives forever. Back when I thought my son would outlive me.

The probe is made and ready to go. We are just waiting on me to lose weight. It's a huge weight on my shoulders (literally too, I guess) and it's incredibly frustrating. I wish it was simple. We are doing IVF because we are carriers of Tay-Sachs, not because of a fertility issue. I know they have their reasons and they want to make sure I have a healthy pregnancy.. but I am healthy. I'm fat, but I'm healthy. My numbers (besides the ones on a scale) are all within normal ranges. I've lost some weight since last year but my progress has seem to stall. I've added in the gym and I'm hoping it will start coming off me soon. I am tired of waiting. I am ready to continue our family now. I want Greyson's siblings to have us as parents before we're too old to have children any longer. I know I've said this before - but I hate that this is our life. I hate that this is our story. I wish we could just have children without the risk of watching them regress and die. We could take the risk of getting pregnant naturally but it's a 25% chance we would have to face Tay-Sachs again. I cannot survive losing another baby like this.

My grief has been a rollercoaster lately too. We recently lost a few boys in our group and it hit me hard. It sucks. It's hard. It's not fair. I've been hitting the gym 4-5x a week and it's helping me with my deep grief. The kind of grief where I can't seem to shake it. I'm pretty good at hiding it and putting on a "brave" face, but I don't always feel the way I act. The gym has helped with that. I've also been getting my nails done and it helps too. These are my current nails!

Millie can usually tell when I'm having a rough grief day. She's been really good at sitting with me when I need it. I've been spending more time in my boy's room. This was the other day- the sun was shining, I had a cold diet coke, a new book to start reading, and my girl to snuggle me. It was lovely.

The other thing that I've been working on is helping my parents move! They purchased a new condo near our home and we moved everything in this past week for them (the movers carried the heavy stuff) but I love how packed we got my car! Their view is gorgeous too!

This month, February, is rare disease month. They consider it to be a rare month because there's only 28, sometimes 29 days in this month. So this month all rare diseases are celebrated, shared, and advocated for. Today being February 29th is the most rare day of the year, especially with it being a leap year. My plan had been to share more information about Tay-Sachs and other children in our support group, and other kids that I had met with rare diseases on social media. This month was hard for me with the losses in our group, school, work, and grief in general. I didn't get to share as much as I wanted to, but there is always time and it doesn't necessarily need to be just this month. The biggest takeaway that I think most of these families want other people to know and understand, is rare is real. Rare happens. It's not just a story that you see on the news, it's not just something that you can scroll past. It's real. Every single person is a carrier of something, and you never know unless you get expanded genetic testing completed before you start your family. It's so important to have all of the information so you can make an informed decision, especially with these new restrictions from Roe v Wade being overturned. I think by now anybody who reads my blog understands where I stand with expanded genetic testing, but if you have any questions please feel free to reach out and let me know. If I don't know the answer I can definitely help find the answer. Our email box is greysons.brave.story@gmail.com

I will always share Greyson's story because I never want another family to feel alone, because these kids deserve to be heard, and because he's my favorite thing to talk about. I mean, look at how handsome he is!

I hope you have a wonderful weekend ahead and here is to a wonderful March.

xoxo,

Kim