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.
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.
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List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.
It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.
It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.
The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association
Learn MoreWhen you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.
There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.
The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.
We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.
It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.
Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.
Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
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Explore the essential takeaways from Victoria's Webinar, along with some resources that she shared.
