Blau syndrome
A rare disease that robs children of their sight and mobility.
Blau syndrome is a rare, degenerative and life-threatening disease that robs those affected of their vision, mobility and in some cases their life. There is no cure.
Cause and diagnosis
One gene, found with a simple blood test.
Blau syndrome is a rare systemic inflammatory disorder. It begins in early childhood and is caused by a change in a single gene, NOD2. Knowing that is what makes a cure possible to imagine.
- Cause
- Mutations in the NOD2 gene, which provides instructions for making a protein involved in the immune system. It is a genetic illness, although it is not always inherited.
- Onset
- Blau syndrome manifests before the age of three, usually in early childhood.
- Diagnosis
- The disease can be diagnosed through a simple blood test that identifies the NOD2 mutation.
- Also called
- Early-onset sarcoidosis. You may see either name in medical records and research papers.
Symptoms
Joints, skin and eyes, and sometimes much more.
Blau syndrome is known for a classic triad of arthritis, skin rash and uveitis. Over time it can spread to organs throughout the body.
Uveitis
80%A common and often severe symptom that can lead to vision loss and other complications. It affects 80% of patients.Skin rash
90%Usually the earliest sign of Blau syndrome. Granulomatous dermatitis is found in 90% of patients.Granulomatous arthritis
96%96% of patients have arthritis and tenosynovitis, often beginning in infancy.Organ involvement
Expanded manifestations of the disease can include inflammation in the:
- Kidneys
- Liver
- Brain
- Heart
- Spleen
- Blood vessels
- Lymph nodes
What families face
People with Blau often look well. They are fighting a hidden battle.
Because Blau is so rare, many doctors have never seen it. These details come from the families who shared their stories with us.
Misdiagnosis comes first
Keira's family visited specialists for more than a year before she was told she had severe juvenile idiopathic arthritis. Lexi was diagnosed with juvenile arthritis on her first birthday and confirmed with Blau just before her third, after a skin biopsy and genetic testing.
Keira's storyDrugs borrowed from other diseases
With no treatment made for Blau, families try one biologic after another. Addison tried Humira, Enbrel, Rituxan and Remicade. Keira has received more than 200 infusions, alongside weekly shots and a daily drug regimen.
Addison's storySteroids, and what they cost
Prednisone is often the only thing that lets a child move. It also stunts growth. Keira needs daily growth hormone injections after 13 years of daily steroids, and Kathleen's son Brian fell into severe growth failure.
Kathleen's story
Every dollar, every hour, every voice matters.
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