Pyruvate Kinase Deficiency – summary, symptoms, treatments, life expectancy

Download the App Pyruvate Kinase Deficiency – Symptoms, Life Expectancy, Resources If you’re a care provider that would like a printable pdf version for your patients, please visit www.lamarhealth.com/providers/ What is in this report:   We’re going to break down all the medical terms into easy pieces and give you the key information you need to navigate […]

Homocystinuria – summary, symptoms, treatments, life expectancy

Download the App Homocystinuria – all you need to know What is in this report:   We’ve taken the latest medical information used by doctors from clinical databases and broken down all the medical terms into easy pieces to give you everything you need to navigate this condition throughout life.   If you had any trouble understanding […]

MELAS – symptoms, life expectancy, resources

Download the App MELAS – Symptoms, Life Expectancy, Resources If you’re a care provider that would like a printable pdf version for your patients, please visit www.lamarhealth.com/providers/ What is in this report: We’re going to break down all the medical terms into easy pieces and give you the key information you need to navigate this condition throughout […]

Types of Genetic Tests for a Diagnosis

Download the App Choosing the right genetic test involves balancing cost and how much information you get out of them. Genetic tests have become a routine way to confirm a suspected diagnosis. They may allow a doctor to pinpoint exactly what is causing your symptoms. But your DNA is made up of 6 billion units of information. There’s still a […]

Variant of Unknown Significance – Definition & Next steps

Download the App Variants of Unknown Significance (VUS)   A variant of unknown significance is a DNA change where there is too little information in the scientific community to say for sure whether the change causes disease or not.   A variant of unknown significance can not be used to rule out or confirm a diagnosis.  Because […]

How to find a clinical trial

Download the App How to find a Clinical Trial: Although it is scary, please know that there’s slow, careful work going on to try and improve treatments and care for rare disease. You are not alone and you can do something to help.  Rare conditions were historically not heavily focused on by treatment developers. A […]