What to do when you are sick

Introduction and Background

• The speaker is a clinician who takes care of people, children and adults, with mitochondrial disease, and their goal is to help find good treatments to improve the quality and longevity of life for these patients 00:12.
• The clinician has been working in the field for 20 years and has seen the emergence of new therapies, which was not the case when they started, and they are excited about the possibilities these new therapies bring 00:42.
• One of the biggest concerns for patients with mitochondrial disease is what to do when they get sick and how to avoid hospitalization, which is a difficult topic to generalize due to the individualized nature of the disease 01:20.
• Mitochondrial disease can affect people of different ages and with different syndromes, such as Lee syndrome in a six-month-old baby or CER syndrome in a 45-year-old woman, making it challenging to provide generalized advice 01:46.
• The clinician aims to provide personalized talks to their patients on this topic and hopes to cover common themes that can be relevant to everyone, while also leaving time for individualized questions and answers 02:12.

Understanding Mitochondrial Disease

• To understand why mitochondrial disease makes people feel bad or sick, it’s essential to understand the basics of the human body, which is made up of parts, and each part is made up of smaller parts, including cells and mitochondria 02:31.
• Mitochondria are the parts within cells that the clinician cares about, and when they don’t work correctly, it leads to mitochondrial disease, which is a more complex issue than other diseases like heart disease 03:22.
• Mitochondria play a crucial role in the body by taking food and turning it into energy in the form of ATP, a chemical that enables the body’s parts to function properly 03:44.
• When the body needs more energy, it activates the mitochondria to produce more ATP, and when it doesn’t need energy, it slows them down and turns them off 04:17.
• The process of turning food into energy produces waste products, including heat, free radicals, and chemical waste, with the efficiency of this process varying from person to person 04:38.
• People with mitochondrial disease have impaired mitochondrial function, resulting in varying degrees of reduced energy production and increased waste product production 05:29.
• Free radicals are a natural byproduct of mitochondrial processes that can damage cells and contribute to aging, with antioxidants helping to counteract their effects 06:16.
• Individuals with mitochondrial disease produce more free radicals, leading to increased oxidative stress and cellular damage 06:52.
• The efficiency of mitochondrial function determines the balance between energy production and free radical generation, with healthy mitochondria producing more energy and fewer free radicals 06:58.
• Mitochondrial disease can lead to inadequate ATP production, impaired cellular function, and ultimately, organ dysfunction 07:30.

The Impact of Illness on Mitochondrial Disease

• When the body is functioning, it produces toxic waste products, including free radicals and lactic acid, which can cause symptoms such as shortness of breath and muscle pain in some people 07:51.
• When a person without a mitochondrial disease gets sick, their body tries to fight off the illness by producing more energy, which can lead to exhaustion, fever, and weakness 08:15.
• In contrast, people with mitochondrial disease already have limited energy production, and when they get sick, their body’s attempt to produce more energy can lead to a severe decline, organ failure, or a regressive episode 09:08.
• The body’s attempt to produce more energy when it has a mitochondrial disease is like “spinning its wheels,” resulting in the production of more oxidative stress, lactic acid, and free radicals, but not actually producing more ATP 10:07.
• This can cause damage to cells and make the person worse, which is why getting sick can be a dangerous situation for people with mitochondrial disease 11:12.
• The body’s response to illness can be overwhelming, leading to a severe decline or organ failure, especially for people with mitochondrial disease 11:34.
• It is essential for people with mitochondrial disease to talk to their specialist and come up with a personalized plan to manage their condition when they get sick 12:02.

Managing Illness with Mitochondrial Disease

• When the body is under stress, such as when an individual is sick, it enters a state of catabolism, where it tries to generate more energy by increasing its ATP production, leading to the buildup of toxic products 12:11.
• In contrast, anabolism is a state where the body is happy, restful, and can generate ATP slowly, without producing toxic byproducts 12:51.
• To help the body recover from illness, it is desirable to trick it back into a state of anabolism, making it think it is not sick and is happy and safe 13:18.
• Consuming sugars can help trick the body into thinking it is happy and calm, reducing its need to produce ATP, and is a recommended approach for patients, especially children, who can be given sugary fluids like Gatorade or Kool-Aid 13:37.
• When sick, it is essential to decrease overall energy demands, avoid pushing oneself, and rest to prevent making the condition worse 14:33.
• Keeping fever under control is crucial, as it is an energy-demanding process, and staying hydrated and nourished is also vital for recovery 15:01.
• Drinking a lot of sugar can help keep the body hydrated and nourished, and can trick the mitochondria into thinking everything is okay, turning off the system of spinning wheels 14:21.