When I first heard those words from my cardiologist when my son was about two months old I was devastated.
In that moment, I knew that this was bad news and I struggled to get a grasp of what was to come. Little did I know that missing about 25 genes on the long arm of chromosome 7 results in gaining quite a few amazing qualities. Love, empathy, and pure joy has been a big part of our lives ever since, even though we face some challenges.
We were handed a folder about Williams syndrome and it was sad to receive a long list of medical conditions that were likely to happen to my child. It included: diabetes, supravalvular aortic stenosis, low muscle tone, developmental disability, ADHD, OCD, hyperacusis, and speech delay. Nonetheless, we were reassured that no single child checks all the boxes on that list as there is a high degree of variability.
Subsequently I went home and started doing research on Pubmed. I was astonished that there was some information out there—a treatment guideline on Pubmed, guidelines on patient organization websites for clinicians, and support for parents and teachers. I found everything from how to embrace our children’s musicality, to the challenges and strengths that they may have. Of course, there needs to be more research. Currently there is not one orphan drug for Williams syndrome, but I was surprised that there was a publication providing treatment guidelines to assist pediatricians in their care of children with Williams Syndrome. It was a great checklist to have as a parent and I felt reassured to think that the guidelines would be followed.
With about five to ten children born with Williams Syndrome in Sweden every year, I did not expect to meet many experts. However, I expected to meet individuals who were open to finding information, collaborating with us as parents, and following up our child accordingly. While we were sent to many different specialists, the lack of coordination was astonishing. I just could not comprehend how there was no communication between the various specialists. This meant that nobody really had an overview on whether or not his needs were met and I was in charge of ensuring that the treatment guidelines were followed accordingly.
Not once, but many times, I was told that I’m a concerned and worried parent and that I should focus on just being a mother.
I would have loved to do just that. To spend my first-year at home with my son focusing on being a mom, enjoying coffee with friends and their babies, enjoying his first-time crawling, eating, and chatting without thinking about what therapies we should be doing to achieve those milestones.
While I did some of that as well, my concern was focused on whether the healthcare system was delivering what he needed and whether the different parts of it were communicating with each other. Was his calcium being checked regularly, was his blood pressure measured in all his limbs as recommended, was the blood flow to his kidneys assessed, were decisions about whether to put him on (or take him off) drugs for his high blood pressure shared between health professionals? If this had been better coordinated then I could have relaxed and just been a mum.
Most of our follow-up plans are in place now, mostly as a result of our efforts but it scares me that my son’s health is so dependent on me as a parent. What happens if I am no longer here to advocate for him—a question many parents with children with rare diseases ask themselves. Why is it that we fail to see who the real patient is, the child, my son, this lovely amazing boy with Williams syndrome. The child who has every right to receive not only coordinated care with timely follow-ups, but also preventative care.
While I praise all the amazing specialists we have met through the years, I’m sad that they are caught in a system that is not working. The most successful meetings and the most fruitful ones have been where we have both understood that we are two experts in that meeting—a parent with the immense knowledge that comes from caring for a child with a rare disorder—and a specialist with a great deal of medical expertise.
People with rare diseases, of which there are thousands, face particular challenges. While there are some promising efforts to meet these, for example the Centers for Rare Diseases in Sweden, it is evident to me that they need more resources and that we need clinics that can handle the complexity of rare diseases, especially syndrome diagnoses.
We need clinics where we can bring our children, and adults, so they can be evaluated by specialists in one setting. Efforts to coordinate care should be extended to actual meetings with a specialist which would allow them to appropriately manage, support, and care for an individual. Hence, we should focus on bringing multidisciplinary teams together with actual patient contact that communicate in a multidisciplinary setting. We are looking forward to seeing how the European reference networks can meet some of these needs, however they cannot be at the expense of coordinating care on a national level.
If I could dream, we would have a clinic for patients with William syndrome in Sweden. It would be a place where I could bring my son as a child, and as an adult, where the necessary medical evaluations could be done in a one or two days. It would be a place where medical experts can do the necessary evaluations that took us over a year to complete and that would significantly reduce the amount of unnecessary testing, as well as reducing the risk of failing to provide adequate medical care to an individual with a rare disease.
Early diagnosis is essential to have access to treatments. But what is the point of early diagnosis if there is little thought towards early intervention, and if it takes over a year to complete basic, but necessary, testing. What is the point if there is still nobody in charge of ensuring that follow ups are done on a timely basis. We need hands on teams that meet the needs of individuals with rare diseases and we need structured ways to implement international treatment guidelines in a timely fashion. Until then the quality of care that a child with rare diseases will receive will continue to be in the hands of their parents.
Beata Ferencz, PhD, Project manager Rare Diseases Sweden.
Competing interests: Employed by Rare Diseases Sweden, member of Williams Syndromeforenzen Sweden, project manager of a project focused on working with Center for Rare Diseases, member of the board for Biobank Sweden, patient representative on NT radet.