I don’t play the lottery very often. I have seen the odds and it barely seems worth it. 1/30,000 isn’t something that could happen to me, so I always brushed-off those odds.
When you are told your baby has a rare chromosome abnormality, and that the odds are about 1/million, you learn to never assume those odds can’t happen to you.
Receiving a rare diagnosis
Nine months after my baby was born we were told she has Uniparental Disomy. This is, in a nutshell, when a person inherits 2 chromosomes from one parent, and none from the other. Rather than one of each. The clinical results can differ greatly depending on the chromosome affected. We had received prenatal genetic testing when I was pregnant and were told that it looked good, we moved forward thinking that the odds of our baby having down syndrome (which was the only genetic disorder that I knew of) were so slim that we had nothing further to think about in regard to genetics. Little did we know; genetic testing doesn’t pick up every chromosome abnormality and that we would be one of those families who receives a rare diagnosis.
Often the diagnosis can be so rare, in our case there are only approximately 200 cases worldwide, so rare that it in the medical world, it’s insignificant. Nobody is rushing in with funding or support. So rare, that they don’t study it. I was expressing to one of our doctors how I was feeling desperate to speak to an expert on my daughter’s diagnosis. The doctor laughed and told me I was the expert. It was true, I knew more about my daughter than any doctor, but that scary reality felt like having the wind knocked out of me. The responsibility felt isolating.
Understanding and coming to terms with a rare diagnosis
It was a long process of understanding and re-learning about our baby. It answered a lot of questions, why what I was reading in the books didn’t relate to us and while milestones weren’t being met. But with every answer came more questions. I turned to the internet and found just a handful of medical journals written in jargon I didn’t understand. It didn’t give me what I needed, which was to hear that everything will be ok. I felt isolated and lost.
I was grieving, and I felt guilt for feeling grief. I had a beautiful baby in my arms, how dare I feel grief.
I had never told anyone I felt as though I was grieving. It wasn’t until one day while standing in our pediatrician’s office she turned to me and told me “it’s okay to mourn”. She must have seen it in my blurry eyes. It was normal to mourn the childhood that I expected for my daughter. Hearing that felt liberating. I felt a weight lifted, my feelings were normal and I wasn’t a horrible mother for having preconceived ideas of who my little girl would be, and being disappointed knowing it may not come true. It was a process of loss, and acceptance.
I want to know what to expect, what our future looks like, what challenges our family will face but I have very few answers. I often feel overwhelmed with the amount of appointments, therapies, and uncertainties. I don’t know when my little girl will walk, I don’t know when I will hear her say “mama”. It can be a very dark and lonely place.
Slowly, I have seen exciting progress in my daughter, she has reached some milestones that blew me away. She has started daycare and has friends, she loves to give hugs and kisses. Seeing her unique milestones taught me to adjust my expectations. I have redefined success. I am happy, optimistic and excited about her future.
I did not reach this positive place on my own, my daughter brought me to this place. Every day, I watch her plough through life without a care in the world, smiling, happy and laughing at everything. Watching her resiliency and adaptability shows me that everything is ok. This is her world and she is going to thrive in it.
I love my daughter more than I ever thought possible to love anyone. She has a way of melting the hearts of everyone she meets. She laughs, and finds nothing but joy in life, her smile and happiness is infectious.
I think about the odds, 1 in a million and it happened to me. I still don’t play the lottery because now it feels like I’ve already won the jackpot. Love doesn’t count chromosomes, and I don’t count the odds.
We are the lucky ones, because everyday families are facing greater challenges, and experiencing real heartbreaking loss. Rare disorders bring incredible isolation and fear to many families. June 17 to 23rd is Rare Chromosome Disorder Awareness Week. To find out more about rare chromosome disorders, please visit www.rarechromo.org.
