Did you know that October is considered Gaucher Awareness Month?

Although October is soon coming to an end, we at Patient Worthy want to advocate for continued awareness and education about Gaucher disease. Raising our collective voices is necessary to spur change and create better outcomes for families within this community.

So, how can you help?

Well, we’re offering some tips and ideas for raising awareness, many of which were sourced from the Gaucher Community Alliance. Join us and the rare disease community in creating better lives for those with Gaucher disease.

What is Gaucher Disease?

Before we dive in, let’s first make sure you have the basics of what Gaucher disease is.

Gaucher disease is a rare, inherited metabolic lysosomal storage disorder. This disease is inherited in an autosomal recessive pattern, which means that someone must inherit one defective GBA gene from each parent. Normally, GBA encodes for the production of beta-glucocerebrosidase. This enzyme breaks down lipids called glucocerebroside into simpler glucose and ceramide molecules. People with Gaucher disease do not have enough beta-glucocerebrosidase, or the beta-glucocerebrosidase isn’t as active as it should be. As a result, glucocerebrosidase builds up in cells and causes tissue and organ damage. While Gaucher disease can occur in people of all backgrounds, it is more common in people of Ashkenazi Jewish descent.

Gaucher Disease Subtypes

• Type I: This form is called non-neuronopathic because it has no central nervous system (CNS) involvement. Gaucher disease type I is the most common form of this condition. Symptoms vary in severity and may include easy bruising, chronic fatigue, anemia, thrombocytopenia, an enlarged liver and/or spleen, bone pain and/or degeneration, and osteoporosis. Those affected may be treated with enzyme replacement therapy (ERT) or oral medications.
• Type II: Known as acute neuronopathic, this form does affect the CNS and causes neurological complications. It affects newborns and infants. Unfortunately, this form has no treatment options and is often lethal between ages 1-3. Symptoms may include an enlarged spleen, hypotonia (low muscle tone), muscle spasticity, strabismus (crossed eyes), dysphagia (difficulty swallowing), feeding difficulties, neck retroflexion, failure to thrive, laryngeal spasms, skin abnormalities, and high-pitched breathing.
• Type III: Known as chronic neuronopathic, this form also causes neurological complications, though these are slower-progressing than type II. Treatment for Gaucher disease type III includes ERT or oral medications. The expected lifespan is anywhere from teens to 40s. Symptoms may include blood and bone abnormalities, mental deterioration, myoclonic seizures, horizontal gaze palsy, interstitial lung disease, and ataxia.
• Perinatal: This form is extremely rare, occurring in fewer than 5% of patients. It is lethal in the womb or typically within 3 months following birth. Symptoms may include scaly skin with a reddish appearance, arthrogryposis multiplex congenita, skin swelling, intracranial hemorrhage, and fluid accumulation in the heart, skin, or lungs.
• Cardiovascular: This form affects the CNS and causes calcification of the heart valves. Symptoms may include corneal opacity, an enlarged spleen, difficulty moving the eyes in desired directions, and problems with balance, walking, or thinking.

Ways to Raise Awareness

Now that you know more about Gaucher disease, here are some ways you can get involved, raise awareness, and make a difference:

1. Share stories: If you or someone you love has Gaucher disease, share your stories on social media with the hashtag #GaucherAwarenessMonth. It’s important to get these stories out there so that the broader public can better understand the impact of Gaucher disease. If you don’t have Gaucher disease, consider sharing stories regardless. Head to social media, search through the #GaucherDisease or #GaucherAwarenessMonth hashtags, and re-share/re-post the stories that resonate most with you.
2. Sign a letter: Consider signing onto this letter and asking Congress to support H.R. 830: Help Ensure Lower Patient Copays Act. This bill would require health insurance plans to apply copay assistance to someone’s deductible and out-of-pocket maximum, assisting patients with treatment access and affordability. You could also sign this letter to urge Congress to support Medicare recipients in receiving home infusions. Currently, home infusions are only allowed for people who physically cannot leave their homes. This requirement poses physical, geographical, and financial barriers to care.
3. Reach out to the news or other community platforms: Consider reaching out to your local news or radio station, school, library, or hospital to ask them to share information and stories on Gaucher disease.
4. Donate: Support research, patient assistance, and other needs by donating to organizations such as the Gaucher Community Alliance.