PAF had a table at the 2019 ABBOTT Metabolic Conference.
There were several presentations and debates that were relevant to the PA community. The first was Dr. Sufin Yap, MD, from Sheffield, UK, who spoke on Organic Acidemias. She described how she has observed her patients in a metabolic crisis and that their livers can enlarge very rapidly. Dr. Yap also described how she has used Carbaglu within a crisis situation and it has brought the ammonia levels down on her patients. The medication was also shown to improve the quality of life of patients with PA using the medication, this was shown by using the PedsQL, a quality of life survey tool. Carbaglu has been used in Europe for over 15 years.
Three dietitians gave a joint presentation on Emergency Preparedness, detailing the impacts of natural disasters on the clinics and staff and also families serviced by their clinics. Amy Cunningham, RD; Suzanne Hollander, RD; and Heather Saavedra, RD, each detailed natural disasters they have had in their areas of the country, which have included wild fires, hurricanes, flooding, droughts, and earthquakes. They have not only impacted families, but the clinic operations. In some cases the hospital and clinics were closed for months. Families, too, were significantly impacted and in one case, a family utilizing one of the clinics had only 5-10 minutes to flee their home. Overall, they indicated a need for all of the metabolic clinics and newborn screening offices to create Emergency Preparedness plans, as well as, helping affected families to prepare as well.
The last session that I wanted to mention was a debate session in which a team of doctors and dietitians each had to debate one side of a treatment suggestion. One was on liver transplantation and whether to encourage or discourage a metabolic family to investigate liver transplantation. While the debate was interesting, the discussion that followed was poignant; they were open to being corrected if they had misstated facts, one being using the livers from those with PA and UCDs in a “domino” transplant, and the other was that they all recommended encouraging their families to seek out information and go down a treatment route if the parents felt that was what was best.