Do you treat a child or an adult with Leigh syndrome? Despite the severity of the disease and lack of treatments, there’s a lot that you can do to help and support your patient and their family. We hope this page will help.
Download All
Never forgotten, Lucas, USA
Darby, USA
Never forgotten, Jack, USA
Never forgotten, Maddox, USA
Rali, Bulgaria
Aadya, USA
Shea, USA
Kendall, USA
Ingrid, Brazil
”We cannot change that which is true and sad. But we can acknowledge it. We can humbly witness suffering and offer support.
- Rana Awdish, MDIn Shock: My Journey from Death to Recovery and the Redemptive Power of Hope
Tips for an appointment with the family
It is important to be mindful of where the patient and family are at a given time. Some families have been on a long diagnostic journey or have been a part of the medical system for a long time, while others have been generally healthy and have encountered a serious diagnosis for the first time. Knowing and keeping this in mind can really help frame the conversations with the patient and family.
If meeting a patient for the first time please find out what they already know and understand about their disease and what are their views and beliefs about it. Some potential questions to ask are:
- What have you been told so far about your diagnosis/genetic report/symptoms?
- You have probably already thought this information over. What does the information you know so far mean to you and your family?
- What do you hope to get out of this appointment or care at this hospital?
- What has been your support system or what has helped you cope so far?
- What are your general goals of care? (examples: try anything that may help, prolong life as much as possible, assure as good a quality of life as possible, enjoy time with family to the extent possible, other goals)
- How much are you looking to be informed about your disease/mutation type? (examples: as much information as possible, only what’s necessary now, other)
Be cognizant of the patient’s/family’s reaction to the information provided. Are they absorbing it? Do they appear scared or overwhelmed? Ask and adjust your approach if necessary.
Let the patient/family know what type of follow-up to expect, how to be in touch, and the anticipated response time. If the medical provider is not the one who will be responding to follow-up inquiries, it is especially important to be clear so that the patient/family has an opportunity to ask all important questions during the appointment.
It is important to clearly communicate a plan for the timing of receiving and reviewing any ordered tests or labs. It can be difficult for patients to receive results they do not understand and have to wait for clarification.
When preparing a post-visit letter, it is imperative that it only contains information that was discussed with the patient during the appointment. It can be challenging to receive a letter several weeks after the appointment with new information or recommendations that were not previously discussed.
Tips for sharing difficult news with the family
Patient families often say that the moment they got a diagnosis or other difficult news has stayed with them forever - they remember every word, every detail of that conversation. We hope these tips will help.
Download this resource
Download these resources to save, print, or share. We hope these are helpful as you are navigating Leigh’s disease together with your patients.
Join Us and Be in the Know
Stay informed and never miss an update by subscribing to our newsletter. Join our community today to receive monthly news, updates, and insights.
We thank the authors and contributors who helped with the development of this page: Kasey Woleben, Sophia Zilber, Courtney Boggs, Shamima Rahman, FRCP, FRCPCH, PhD, Ibrahim Elsharkawi, MD, Breanna Lima Martinez, MS, CGC, Melinda J. Burnworth, PharmD, BCPS, FASHP, FAzPA, Titilola M. Afolabi, PharmD, BCPPS, Peter McGuire, MD, Krisztina Ferencz, Rachel Kramer, PhD.
