Patient Worthy had the privilege of attending another United Leukodystrophy Conference. The ULF’s 2019 event took place at the end of June in Illinois and had a record setting number of attendees. Families, researchers, and physicians, traveled from around the world to learn, connect, and educate. Although the below does not cover every one of the valuable presentations, we’ve compiled some key moments from the event.
Here are some of the presentation highlights:
Dr. Waldman’s presentation debunked some of the myths and misunderstandings around palliative care. Dr. Waldman stated that pediatric palliative care is an interdisciplinary approach to provide support in various forms, to families and children facing a serious illness, regardless of stage or prognosis. Dr. Waldman distinctly aimed to discourage people from thinking of palliative care as something reserved for the end of someone’s life, and with that, an association that accepting palliative care constitutes “giving up”. Palliative care can be so much more than the “keeping someone comfortable” stereotype, and should be something that is centered on the family’s needs and wants.
“We want to know who your child is. What their good days and bad days look like, and what makes them happy. We are ready to stand shoulder to shoulder with you.” – Dr. Waldman
A palliative care team can assist families with medical decisions, travel, treatment, and developing new strategies for symptom management. Dr. Waldman reassured attendees that a palliative care consult should not come with a rigid agenda or judgement. Instead, the physician should prioritize understanding the family’s goals, hopes, and fears. Your palliative care team can then help you in conveying these to others involved in your family’s healthcare, and ensure the medical care they are administering aligns with them. Dr. Waldman posed palliative care as holistic care meant to improve all aspects of a patient’s life – their relationships, independence, or school experience- whatever they may feel their condition limits.
With advancements in research and healthcare, people with conditions that used to prevent them from living past childhood are growing up. Many adult physicians are not sure how to treat adult patients with “childhood” diseases. Dr. Waldman asserted that palliative care can help fill the gaps in the healthcare system, assist in the transition from pediatric to adult care, and broach topics like dating, college, and drug use within the context of chronic illness.
“I would argue palliative care integrated into healthcare is high quality care and everybody deserves it.” –Dr. Waldman
He hopes that families who do not currently have access to palliative care ask “why not” of their hospitals– and that they won’t shy away from putting up a fight with insurance companies, legislators, and hospital administrators for their care.
Hunter’s Hope and the Leukodystrophy Care Network
Anna Grantham gave a presentation on Hunter’s Hope and the Leukodystrophy Care Network. The LCN has developed robust criteria for the improvement of the care of leukodystrophy patients. This criteria is provided to care centers for them to work towards in order to achieve a certification. These centers must continue to meet specific criteria in order to retain their certification once they have earned it, to ensure accountability and reliable quality of care.
Patient and Family Stories
Gabriela Veronica de Pablo traveled all the way from Argentina to present on her Leukodystrophy Foundation’s many projects. She works to help increase leukodystrophy awareness and better the lives of patients. The foundation has an accessibility project in which students at technical highschools adapt chairs for disabled students. They coordinate lunches at Ronald McDonald houses and advocate for newborn screening, among other projects. She also shared her personal story on a patient and caregiver panel. She and her husband fund raised in order to bring their son to Duke for a bone marrow transplant to halt the progression of his metachromatic leukodystrophy (MLD).
Another mother, Amy, shared her family’s story. Her two youngest children were also diagnosed with MLD. The youngest, who was still pre-symptomatic, was eligible for a gene therapy trial in Italy. Her second youngest, sadly, was not. Her son received treatment as her daughter declined-ultimately passing away due to the disease. Shortly thereafter, Amy learned she was pregnant with triplets. One of the triplets also had MLD and was able to participate in the same gene therapy as her older brother. Had newborn screening for MLD been implemented where they lived, all of her children could potentially have received the life-saving therapy.
Jon Kuderer, presented another personal story that highlighted the importance of newborn screening. Jon was able to receive a bone marrow transplant to halt the progression of his ALD after his older brother was diagnosed at later stage of the disease. You can read more about his story here.
Alex, the Leukodystrophy Charity
One of our other partner organizations, Alex, the Leukodystrophy Charity (formerly ALD Life), flew in from the UK to present. Their organization underwent a name change to include families impacted by other types of leukodystrophies besides ALD, who could use support and who could relate to the experiences of their ALD families. Alex, TLC brings families together by similar symptoms, if not conditions, so that they can feel less alone and share advice with one another.
A Neurologist’s Perspective
Neurologist Deborah Renaud from the Mayo Clinic presented an overview of leukodystropy and discussed the different types of myelination issues that can occur, and the varying neurological impact. For example, people with a leukodystrophy may experience peripheral neuropathy, seizures, hearing and vision loss, swallowing problems, and bowel and bladder dysfunction.
She also broached the different types of muscle tone abnormalities: people living with leukodystrophies may present a variety. Many experience low muscle tone in their core, but spasticity in their limbs.
Dr. Renaud advocated for remediations like speech therapy, “We want them to learn the maximum amount of things that they can.”
She gave the audience another piece of advice– advice which is especially important in the midst of summer: Patients with leukodystrophy or any type of dysfunction of the autonomic nervous system may have trouble with body temperature regulation. She suggests asking a physician to prescribe cooling vest to use on hot days. She stated that many insurance companies will cover one as a durable medical device if it’s prescribed for heat intolerance.
The Power of Storytelling and Understanding ALD
Dr. Korson’s presentation emphasized his hopes to spread awareness of leukodystrophy and other rare conditions by sparking interest in medical students through patient stories, rather than just data and diagrams.
“I tell facts, but your ability to tell a story is very powerful.”-Dr. Korson
Dr. Korson aims to create a national patient-teacher registry for metabolic diseases so that those beginning their careers in healthcare can be inspired by the experiences of actual patients that they wouldn’t otherwise have the opportunity to hear.
Dr. Watkins gave a presentation on biochemical cycles in the body, and specifically how they’re impacted by ALD.
Occupational Therapy for Leukodystrophy Patients
Stacy Cusack led a breakout session on occupational therapy for those with leukodystrophies, describing the ways an occupational therapist can help facilitate independence in day to day activities and improve overall well being. An OT will first evaluate an individual and then move forward in finding what type of therapies and adaptive equipment would best fit that person’s unique needs.
An occupational therapist can perform a range of motion and muscle tone assessment. For children with leukodystrophy, there can be quite a spectrum. Poor tone in the trunk can make it difficult for them to keep their heads stable and an OT can recommend a Hensinger collar or head pod to help. Your OT can also help your child find a dynamic truncal orthosis that works best for them. An OT can help with finding the right type of positioning chairs, gait trainers, and splints and braces for maintaining range of motion or strengthening extremities. OTs can work with their patients to help them learn to utilize eye gaze machines and to make the most out of various adaptive gear.
In short, the 2019 ULF conference not only provided attendees with basic scientific information, updates in various advocacy efforts and advancements in research, and leukodystrophy specific breakout sessions, but also facilitated an invaluable sense of support, community, and solidarity. Families were able to chat directly with specialists, and discuss with one another what they’ve found helpful in their own homes, appointments, and travel ventures. Veteran attendees warmly welcomed new families and representatives from other non-profits collaborated and supported one another as well.
The 2020 conference promises to be another educational and worthwhile event.