Eventually, he could barely talk, eat, hear, breathe, move.. it was beyond difficult to witness his deterioration over the years. It was like see a new person those last few visit, the physical changes became so drastic.
My grandfather had Kennedy’s Disease
Kennedy’s Disease. A rare X linked recessive neuromuscular disease that is genetically inherited. How does the mutation cause androgen insensitivity and motor dysfunction? It’s still uncertain. And for KD, there is no known cure or treatment. I won’t dive too deep into punnet squares, but because of that genetic inheritance, I knew my chance of being a carrier was the flip of a coin. Someday I’d need to know for sure which side of that coin held my fate. It’s strange I think, but I feel like I’ve always had an inkling. I felt a special bond to my grandpa. He called us partners in crime. And as I gained more knowledge about KD, I had a strange inkling our bond went beyond just that magical relationship with a grandparent.
Early this year, after a simple blood test, we learned my inkling was correct. Our bond ran as deep as our DNA. That coin toss landed, and it was not in my favor
I was devastated, really. 49 repeats. The blood test to diagnose the KD genetic mutation looks for a CAG repeat expansion in the Androgen Receptor gene. An unaffected individual has 10-35 repeats. A person with Kennedy’s Disease has more than 36 repeats. Seeing my results, that number 49 looking back at me, it felt like a lot. To be honest, I couldn’t stop pulling up those damn lab results. Multiple times a day, day after day. Like if I stared at them again, for any longer, something would change. Something would feel different about how everything had just changed. Even though I know it’s not the most amount of repeats possible, that 49 staring at me made me worry if that amount made a difference. And honestly, I’m still unsure. I’m by NO means a scientist, and the surface research I’ve done could probably be explained to me so I understand it all better. But, I’m try to learn.
I’ve seen studies finding correlations between the number of CAG repeats and onset/symptoms. Some studies say subsequent observations don’t support those findings. So I worry, because I have what seems to be a good amount of repeats, would my kids be predisposed to the same fate? If they ended up inheriting the mutation, could my amount of repeats influence the amount they have, and in turn affect the significance of their experience with KD.
I’ve thought so many times about what it would mean for my path if I was a carrier
When it became my reality, it was so jarring. How could I fathom all that had just changed. But it was really always there, wasn’t it. As a female carrier, the general belief is that I’m safe from developing the devastating symptoms that KD individuals face, but I’ve learned recently it’s not as uncommon for female carries to have mild symptoms. And unfortunately, for our children, their future is another toss of a coin. And our kids, they’re my #1 priority. I’ve seen a few articles saying studies are showing increasing evidence of onset before adulthood. Whether that’s valid or not, I’m unsure. But it’s enough for me to be more concerned.
So how can I protect my children when there is conflicting information?
It’s a little confusing, and difficult when there isn’t a ton of research and education like other well known diseases. With this disease, the motor neurons die. If onset can start in adolescence, our kids could live a life where their activities are strained by muscle weakness, leading into a life where they struggle to run around and play with their own children. Maybe they won’t be able to walk their kids down they aisle, or be an athlete or be hindered to do whatever it is they want to be or do, and I just can’t risk that for them.
Fortunately and unfortunately for us, our family planning has taken us the route of IVF
How could we not give our kids the healthiest future possible if we have the opportunity? I’m so grateful really. That it’s even an option. Unfortunately, not everyone in our position can choose this route for family planning. But even so for us, there’s not a 100% guarantee contraceptives won’t fail, an accident won’t happen, and a surprise pregnancy could possibly result in a baby with KD. It’s a concern I struggle with everyday. Baby announcement and gender reveal, one after another. I wanted that.
The surprise baby. I wanted to wake up one day, look at my husband and say, “let’s have a baby.” I wanted to feel weird, knowing something was different, and rush to the store for a pregnancy test. I wanted to plan an elaborate way to tell my husband about the surprise mini me in my belly. And even though I can still have that, I can’t.
I can’t risk that fate for our children
We chose that it’s not the safe path. So it feels like the universe has said I’m not allowed, and that special part of this journey has been taken away. It’s been a very difficult part to accept, while it seems everyone around us is having babies.
Sometimes it feels like the closer others get to parenthood being their reality, the further it is from being mine.. which I know doesn’t make sense, and isn’t true. And I don’t know their struggles, I don’t know their stories. So I have to just continue to stay strong in the knowledge that our babies will come to us in their time. They’ll be strong and healthy thanks to a bit of extra effort.
We will hopefully begin our IVF journey in the coming year, and we will continue to document along the way and allow space to advocate for KD and IVF
I know the road may be a bit bumpier, and very emotionally difficult, but we’re blessed with this opportunity to give our children this chance to be free from that fancy electric wheelchair, and the horrible deterioration that Kennedy’s Disease can bring.