October 26, 2022
Those with rare and complex disorders and their caregivers hold a crucial role in their care team. They often have to inform and educate providers, educators and secondary caregivers about the unique health and educational challenges that are faced with rare disorders like Propionic Acidemia. The Orphan Drug Act defines a rare disease as a disease or condition that impacts less than 200,000 people in the US. Some of these Orphan disorders only have a few cases per year and may have only been mentioned in passing during medical or educational training. According to the National Institutes of Health, there are between 25-30 million people in the United States with a rare disorder.
The Care Notebook is a useful tool to keep important information to help with the care of the person with complex medical needs. It is an individualized compilation of important information and may include: a current list of medications with strength and dosing; allergies; list of providers; medical supplies list; an emergency room letter; emergency contact information; notes for specialists like cardiology, gastroenterology, or therapies; and relevant reference materials. It can also include preferences, personal information, and information on coping.
Often, when an individual with a rare disorder sees a new medical professional, has a new caregiver, starts another year of school, or visits the emergency department, the professionals encountered may know little to nothing about their condition. These professionals have to then change from being the educator and medical decision planner to one who is being educated and informed on how a particular condition is managed. Since this can be such a large role reversal for some providers it is helpful to have printed documentation regarding the treatment plans, condition, and medical history.
Brittany Smith, mom to Talli, and a member of the board of directors for the Propionic Acidemia Foundation, recalls when her daughter had surgery, the anesthesiologist wanted to use the IV solution lactated ringers and was quite insistent that it be used. Brittany provided him with a peer reviewed journal article from Talli’s Care Notebook on how a dextrose solution should be utilized during periods of fasting and that lactated ringers would contribute to acidosis which is of particular concern with Propionic Acidemia. Talli tolerated the surgery well with saline and D10 IV solutions.
In the era of electronic medical records, it is still useful to have a compilation of medical records, particularly medication lists and recent test results. Those with complex medical needs often utilize different facilities whose records systems may not be integrated. A printed record also eliminates the need for a recall from memory which may be particularly difficult when there is a need for emergency treatment or when seeing a new provider. The Care Notebook can also contain an emergency room letter from specialists advising what tests to perform, who to contact and a list of the current medications. If admission is needed, it is useful to leave out for nurses, nursing students, residents and other medical personnel to have the option to look through it and educate themselves on the unique needs and as a person.
Jill Chertow, mom to Jordan Franks and President of the Propionic Acidemia Foundation, says her son’s notebook also included information like:
I like to play golf on my iPad and watch videos on YouTube of Barney
Please spray my arm with numbing medication before drawing blood
When I am well, I am very active
I use gestures and my talker to communicate.
It was useful for the providers to know how to facilitate communication with Jordan, know what soothes him, and what his normal activity level was. Jill would have it available for the medical staff to look at, which was also helpful for them relating to Jordan as a person.
The Care Notebook can also be helpful during Early Childhood (IFSP), 504 or IEP meetings. The medical records provide documentation for the educational facility on the unique needs in regard to their disabilities. That information can also contribute to creating an individual health care plan as a part of the educational plan for a child. Both Jordan and Talli had one on one nursing care within their classrooms at school. The nurses administered medications, g-tube feedings, monitored their health, and provided other medical interventions. Their healthcare plans were extensive and were based largely on information from their Care Notebooks.
We would like to thank Know Rare for stylizing our updated Care Notebook. We are grateful for their support.
We are also appreciative of Rare Advocacy Movement (RAM) for their support of the Propionic Acidemia Foundation.
The Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.
The Rare Advocacy Movement (RAM) is the first community-based network of professional activists and allied advocates dedicated to protecting the interests of the global community of people living with rare conditions, disabilities, medical complexities and their families.
PAF is a 501c(3) dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.