Welcome to Holland
In her Welcome to Holland essay from 1987, the author Emily Perl Kingsley attempts to describe from her personal experience what it feels like to find out that your child has a disability, and the difficult yet necessary experience of having to reconcile your new reality with past expectations. It makes the analogy that planning to have a baby is like planning an exciting trip to Italy, but instead finding out that you have landed in Holland, and there you must stay. At first, it’s very difficult to adjust, and you are always asking yourself why it must be you that must stay in Holland. But while the pain of not being able to go to Italy will never really go away, you must also find ways to appreciate all the things that Holland has to offer for you to continue living your life.
It’s a popular essay, often shared amongst the disability community, and one that has helped many families with processing their emotions when they find out about their new realities. Mileage varies, of course, as each situation is different and how you cope with life altering moments is different.
For us, it was a helpful starting point in our own healing journey when we were trying to make sense of our world in December 2019. We had just learned that our two-year-old daughter Lila was officially diagnosed with a rare and complex neurological condition called Rett syndrome.
Our world had turned upside down, our ground had shifted below us, and we were trying to grasp at anything to hold on to. This is the story of Lila’s diagnosis journey, one that spanned multiple countries and continents.
Prior to December 2019, we had known for some time that something was not right with Lila’s growth and development. She was born a happy, healthy baby in Nairobi, Kenya where we were living at the time. For the first six months, she was progressing well with all her milestones, and we were a happy little family of three, cherishing every moment together. Around the 9-12 month mark, we realized that she was starting to fall a bit behind in her gross motor skills, and her body had a lower than normal muscle tone. We started doing physical therapy upon recommendation from her pediatrician, but when she still hadn’t attempted to take her first steps around the 15 month mark and started to lose some of the skills she had gained earlier, we knew we needed to start looking for answers, and fast.
This was December 2018. There was only one pediatric neurologist in Kenya at that time, and after one quick consult in January 2019, she said that we should probably go to the U.K. or U.S. to get genetic testing done and get seen by additional specialists. Fortunately for us, the pediatric neurologist had completed her training at Great Ormond Street Hospital, a top children’s hospital in the U.K. and was able to refer us to their medical team on short notice. We landed in the U.K. the following month, hopeful and nervous at the same time. After going through a battery of tests, the medical team were able to rule out some conditions, but couldn’t figure out what exactly she had, except that it was likely to be a complex and rare neurological condition that would impact her for life. And that we would need to do specialized genetic testing to get more specific answers. And that she should continue doing various therapies to help progress her skills while we looked for answers.
I think it was at this time that the full gravity of the situation hit us, and the crushing realization that our beautiful baby girl’s life was not going to be the one that we had imagined for her. And that our life was not going to be the one we had imagined for ourselves.
We were not going to Italy after all, but we also didn’t know where we had landed and where we were going to go next. It was a really intense situation to be in, and we both started processing and grieving in our own ways.
Upon our return to Kenya, along with continuing to do more research and have conversations with our now growing team of doctors, specialists and therapists, we also were wrestling with what to do with our lives, including whether we should stay or leave Kenya. We quickly realized that moving back West made the most sense, and we ended up deciding to move to Boston given the presence of Boston Children’s Hospital, access to broader medical care and facilities for treatment and therapy, professional opportunities for both of us and close proximity to our families in Toronto, Canada. It was an emotional decision, but we knew it was the right one for Lila, and thus the right one for us too as a family.
Within six weeks of that decision, we packed our bags, left our jobs and said goodbye to our home and friends, one where we had spent the last four years of our life and had planned to spend many more. And then 6 months later, in December 2019, Lila got her diagnosis at Boston Children’s Hospital after a full exome sequence testing revealed a genetic mutation that was tied closely to Rett syndrome. Her clinical symptoms also matched, and for the first time, we had some answers to what was going on with Lila and could start charting our life forward, step by step.
One step at a time
It has been four years since then, and Lila is now a 5 year old who enjoys going to school, loves listening to Taylor Swift and trying new adventures like adaptive skiing and surfing. Reflecting back on this journey to get Lila’s diagnosis, first and foremost, we are filled with gratitude. For all the medical professionals who guided us, listened to us and supported us. For our families and friends who accompanied us along the way. For our network and resources which we know is not a given for every family.
The journey to get a diagnosis for a rare condition can take a lot of time and resources. It is often filled by days, weeks and months of anxiety, stress and confusion. You often start out on your own when it comes to capturing your or your loved one’s medical history, conducting research and figuring out who to speak to or next steps to take. You often have to wait long periods of time to see the right specialist, or to get approval for the appropriate testing to be done, or to get approval from your health insurance that this testing is necessary and that it should be covered under your plan, or to raise funds if your health insurance won’t cover the costs. You are not always satisfied with what well meaning medical professionals will tell you, and you go to bed at night knowing that you must keep pushing to get answers. In addition, you are continuing to navigate other aspects of life including your job or school or family, and also bring people close to you along on the journey. Not to mention all the various personal and professional pivots you need to make in your life to accommodate this curveball that has been thrown at you.
All of this can be exhausting and often happens behind the scenes. And yet, you must keep moving on, one step at a time, appreciating everything else that Holland has to offer.
For me, one of those steps has been getting involved in the healthcare space careerwise, and joining AllStripes to help accelerate research and unlock treatments for those affected by rare conditions. Through our journey with Lila, it is my hope that I can play a small part in making a dent in this ambitious vision for those affected by rare disease, all over the world.