One year since we received the call that would firmly change the projected path of our lives. Early in the morning on January 11th, 2018, we received answers for our daughter’s developmental delays. PURA Syndrome - the first time I would hear the name of this rare genetic condition. Knowing provided answers, and a community, yet also leaves us with many questions, as is the case with most rare diseases.
We weren’t meant to have this answer yet. We weren’t testing for PURA Syndrome. We weren’t doing extensive genetic testing. As a matter of fact, I spent the three months prior to receiving this diagnosis worried sick. The labs that had been ordered were testing for leukodystrophy, a progressive, metabolic, genetic disease which destroys the white matter in the brain. Most children diagnosed at a young age do not live very long.
I had spent two months waiting for the results, and I was terrified when I received a call from our Genetic Counselor. She said, “we have an answer, but It’s NOT leukodystrophy. For whatever the reason, the lab that received Taylor’s blood sample had decided independently, for research purposes, to run a Whole Exome Sequencing (a very expensive genetic test that is not always covered by insurance companies), and we finally had our answer.
Maybe, I needed to be terrified prior to getting our diagnosis? Maybe, I needed the reminder that things could always be worse? Because when I finally got the diagnosis of PURA Syndrome, I felt…relief. Relief to know that that I would have my baby with me for the for-seeable future. Our daughter teaches us so many valuable lessons each day, but these five lessons have been very impactful over the last year since receiving her diagnosis:
1. Do Not Underestimate Others
There is such a wide range of functioning among individuals diagnosed with PURA Syndrome. There is really no way to know what the future holds for us. But our daughter is full of surprises. I can not tell you how many times I have doubted her capabilities. We doubted whether she would ever crawl, but she is. We weren’t sure if she would ever walk, yet she now cruises around with the assistance of a walker. I have worried that she would not be able to communicate but she recently began using some simple sign language. She has proved me wrong so many times. I still doubt sometimes…but I hope BIG. I have seen children with PURA Syndrome running on a track field, skiing with assistance, speaking, signing, and using communication devices. Do NOT put limits on your children. Presume competency. Presume understanding.
2. Life Is Still Good
Receiving that diagnosis was life-changing, but it doesn’t mean life is bad. We have obstacles and challenges, but we face them as any family would face their own. Recognizing that you will be a caretaker for most, if not, the rest of your adult life is not an easy revelation. There are moments where I am very saddened by the realization that life is very different from what I had imagined and hoped for long ago (Loss of a Life Imagined: Grief and Chronic Sorrow). But overall, life is still good for us. We are fortunate to have a daughter who is happy and loving and will make a great companion as we all grow old together.
3. Some People Are Suffering
It’s not like I didn’t know this before, but it resonates with me in new and different ways since receiving our daughter’s diagnosis. There are many individuals and families with children who have rare diseases, are medically complex, and have various disabilities. Some families do not have great social support and have financial struggles. There are mothers and fathers sitting with their children in the NICU and the PICU as I am writing this – missing work, wondering how they are going to pay the hospital bill, and physically and emotionally exhausted. There are individuals suffering with debilitating conditions. It is not an easy road to access services and care when you have a disability or rare disease. Even the educational system can be daunting. I also realize there are many families who have lost or may imminently lose their child. We know two families who have children diagnosed with leukodystrophy, the same progressive illness we were so worried Taylor might have. People are suffering and need love and support.
4. People Are Good
People are really wonderful overall. There are people in this world doing some pretty amazing work. Compassionate caregivers and teachers, pioneering researchers, and passionate individuals and parents are making a real difference in this world. We also received such tremendous personal support after our daughter was diagnosed. We held a fundraiser and raised a substantial amount of money for the PURA Syndrome Foundation. We have had friends bring us meals and had so many offers of childcare. Most importantly, our friends and family have invested in our daughter. They are interested in what she is doing, they want to learn skills and tools which will help them to interact with her, they want to include her in activities, and they are so kind and loving to her. Not everyone knows how to respond or what to say, but the effort is appreciated. We have appreciated this outpouring of love and support more than we will ever be able to express.
5. We Are All Capable Of More Than We Believe
So often, we limit ourselves through our thoughts and beliefs. We allow doubts and negative messages from the past to seep in and discourage us from pursuing our dreams. We tell ourselves we “don’t have the time” or we “wouldn’t be good at that.” We allow fear to inhibit us. Having the privilege of being around my daughter, Taylor, has helped me to see that we can do so much more. In the three years of her life, she has pushed me well out of my comfort zone to do things I never thought I would do – this blog, fundraising, advocating, serving on a Board, and creating a local community of families affected by rare disease. Taylor has all of the cards stacked against her, so what is my excuse? Her strength and determination show me daily how to rise above doubts and insecurities, persevere through adversity, and be Tough Like Taylor.