“First, prepare and be ready. Second, detect, protect and treat. Third, reduce transmission. Fourth, innovate and learn.” - Tedros Ghebreyesus, WHO Director General.
Just weeks before the first joint scientific meeting between Genetic Metabolic Dietitians International (GMDI) and the Society of Inherited Metabolic Diseases (SIMD), the world of metabolism rapidly switched the focus of its learning to the care of patients during a pandemic. Although our metabolic community already practiced the concepts of “Prepare, detect and treat, reduce transmission, and innovate”, the new pandemic paradigm presented unique challenges. Here we describe how our metabolic team transformed these challenges into opportunities. We hope that innovations borne out of necessity during the COVID-19 pandemic will advance the care of metabolic patients and find their place in best practices.
Providers in biochemical genetics, out of necessity, are typically very good at preparing for the unexpected—from having families store a little extra formula, to ensuring an extra stash of medications, metabolic families are famous for their preparations for the unknown. With the writing on the wall, but no real idea of what was to come, our team began reaching out to rare disease medication and medical food manufactures in late February to understand there supply chains and emergency preparedness plans in order to prepare for inevitable questions and concerns form families.
In late February and early March 2020, we also quickly worked towards expanding our telemedicine program. In the previous 5 years, our telemedicine program had had limited success in overcoming the common hurdles of limited resources, institutional roadblocks, provider resistance, patient concerns, and state licensing limitations. For metabolic providers and families, the “need” for laboratory studies further hampered this process. When it became clear that telemedicine would be a necessary option to protect our patients and reduce the spread of the virus, we redoubled our efforts. After all, if school, live TV shows, and Saturday Night Live can be virtual why not a genetics visit? By the time the local stay-at-home orders were announced, all our providers had been trained on our telemedicine platform, and our clinics had been converted to telemedicine. For a privileged clinical team accustomed to same-day lab results, we were challenged to focus on the immediate necessities. Providing reassurance to patients and families, and helping them meet the “stay at home” mandate took priority. Non-urgent labs could wait.
For our metabolic dietitians, this new platform opened a world of possibilities. With the transition, we have been able to see into patient's homes and kitchens, understanding literally where they come from in a way we never have before. From “I do not understand how you are making your formula. Go grab your scale and let's do it together”, to “You had cookies yesterday, show me the package and we can examine the label together”, the ability to make a house call has taken on a whole new meaning. And when the cabinets and refrigerators are empty when they should be full, we have been able to step in with resources for the whole family to meet their current needs. Thus, telemedicine has allowed us to meet families where they really are: “sheltered in place” at home.
To help providers and families better cope with a new evaluation mechanism, we developed a pre-visit infographic checklist to help patients prepare for this new method of care. By prompting them to test the technology, think of questions ahead of time, have medications and supplements ready to show, reminding families of how to keep a food record and requesting it ahead of time, and finally giving tips for checking height and weight at home, we put the control back into the family's hands. These preparation methods have assisted in providing a comprehensive and efficient telemedicine visit that is based on more than just checking in and reviewing old goals.
Those in the rare disease field are accustomed to creating community in the face of the unknown. This sense of urgency and community has been felt in genetics clinics across the country. A survey of seven large metabolic centers on the effects of COVID-19 on patient care was published in the recent GMDI newsletter. All metabolic centers faced significant challenges but in their own ways managed to come together as a team to implement telemedicine, safeguard acute care for in and out-patients, ensure newborn screening follow-up continued, and ease the fears and anxiety expressed by families and colleagues (http://gmdi.org/Member-Resources/GMDI-Communications/GMDI-Connection-Newsletters; accessed 5/12/2020). At the Children's National Rare Disease Institute it is our mission to forge a community both from within our department as well as with the families we serve. Daily virtual meetings of our 30 division members, although brief, grant us “face-time” with each other, let us quickly resolve any problems, and more importantly, allow us to support each other to ensure we continue to support our patients. Our dietitians have initiated regular email newsletters for our metabolic cohort in both English and Spanish. These emails provide clinical and community updates related to COVID-19 as well as tips to stay healthy and sane at home. Emails have offered short science activities to do with children, resources on making your own mask, and suggestions on staying active. On-call geneticists have noted this may have helped to ease patient fears, as they are now receiving fewer “I'm worried about x,y, or z” calls from families. However, email can only go so far to maintain close relationships with our patients. Our metabolic dietitians sought to build community and maintain our presence through an offering of virtual cooking skills classes which have been very well received and have launched the development of a virtual class series for all age groups and a variety of diagnoses.
Through a pandemic, the paradigm of care has shifted. Our patients and their families will tell you that they have been practicing for this type of situation since diagnosis. Their hypervigilance has prepared them to social distance during flu season, shelter in place when things got bad, and take things as they come. Now it's our turn to catch up to them. We are now convinced that telemedicine is effective and viable for patients with inborn errors of metabolism, allowing for a chance to “make a house call”. At first, we worried it would be sub-optimal care, but we now know it is different care that meets needs we did not anticipate.
At the beginning of 2020, we had hoped that GMDI and SIMD coming together to a conference hall in Austin, Texas, would lead to innovation and improved care for metabolic patients. Instead, the very reason we did not meet in person—the COVID-19 pandemic—has to our surprise, brought our professions together to achieve the same goal of creating innovative and improved ways to care for our patients.