Spotlight on Menkes Disease

I met Daniel at the RARE Summit, where we discussed how we can use social media to shorten the time that it takes for an undiagnosed rare disease patient to become aware of their disease. Daniel works in TV and film production and had just made a documentary about his son, Lucas, who has Menkes Disease (link). November is Menkes awareness month, and he and the Menkes Foundation (link) are focused on raising awareness and funding research to increase early detection of Menkes disease.

Children born with Menkes disease cannot absorb copper through their intestines. Since copper is essential for the development of the brain and other tissues, these children are unable to develop basic motor and mental functions. Typically, children are diagnosed as they begin to miss developmental milestones around 4 months of age. At this point, however, it is too late to overcome much of the damage that their copper deficiency has caused.

The earlier that Menkes disease is diagnosed, the better the prognosis can be for these children. There is a critical window of 10 days during which, if the patient begins receiving copper infusions, they may live relatively normal lives. However, too many children are diagnosed well after this critical window. As such, it is important that we raise awareness to get children that exhibit symptoms of Menkes to a genetic counselor as soon as possible.

The current tests that could screen for Menkes are more complex than most new born screenings, and they are usually only performed when there is family history of Menkes disease. If a test is not performed, it is important that parents and physicians raise a red flag if they notice the hallmark symptoms of Menkes: Kinky Tangled Pale or Gray Hair, a cherubic face (low bridged nose, chubby cheeks), sagging facial features, seizures, low muscle tone, Feeding and Sleeping Difficulties.

We can use the WeHealth platform to raise awareness for Menkes by getting YOU involved in getting the Menkes warning signs shared on social media. Getting earlier diagnoses can help them to live happy, healthy lives. We are working with Daniel and the Menkes Foundation team to organize an awareness campaign with WeHealth and will keep you posted when we launch.

Spotlight on Primary Immunodeficiency

I met Ashanthi as I was standing in line for a book signing at the RARE Summit. When I asked her why she was attending the summit, she replied that she had been diagnosed with primary immunodeficiency (PI), also known as “Bubble Boy Disease”. PI gets this name because patients with PI have weak immune systems and have difficulty fighting off infections. As a result they must insulate themselves from the outside world – living in a bubble – or risk illness.

Ashanthi’s healthy appearance and radiant smile did not suggest somebody with a terrible disease such as PI. However, I learned that she has been in and out of the hospital throughout her life (4 times that month) and, at the age of 30, had battled potential lung failure, fibromyalgia, and cancer. However, she has lived a full life, accomplished amazing things, and traveled around the world. Moreover, she is now embracing her story and sharing it as an advocate for patients who are suffering in silence as she had through most of her life. Follow her work on her blog, Life With PI.

PI affects 1 in 1,200 people in the United States. However, it is thought that there are over 500,000 cases of undiagnosed PI. Worldwide the problem is even worse. Part of the reason for this underdiagnosis is that there tends to be a focus on treating the symptoms that result from a weakened immune system (ie infections, respiratory problems) rather than treating the immune system itself. However, it is critical that we diagnose PI early in life in order to prevent illnesses from permanently crippling those affected.

Ashanthi has met patients who were diagnosed as children, and others who have had to wait until 70 years of age to receive a diagnosis. Imagine living a life filled with hospital visits, constantly falling ill, and being referred to every type of doctor for that long before you can reach an answer. Yet, these are the journeys some people have taken.

Doctors are often told in medical school, “When you hear hoofbeats, think horses, not zebras,” meaning look for what is most common. The PI and rare disease community often promotes the concept of “think zebra,” encouraging doctors to also consider and look for diagnoses that might be uncommon when other methods or diagnoses aren’t working. Luckily with tools like newborn screening, certain PIs like Severe Combined Immunodeficiency can be diagnosed at birth, and babies can receive treatment within months, before they risk catching their first infection.

Since PI patients have nonfunctioning components of their immune system, they remain at a higher risk for infection. This, paired with the inability to fight illness off on their own, makes receiving immune-boosters like IVIG, absolutely necessary. All doctors, regardless of background, should be educated further on immune deficiencies, so when a patient presents their case, the doctor is able to refer him or her to an immunologist.

With WeHealth, we can work together to find these undiagnosed patients and educate doctors to begin “thinking zebra” more. Getting earlier diagnoses will help them to live happy, healthy lives. We are working with Ashanthi to organize an awareness campaign with WeHealth and will keep you posted when we launch.

WeHealth for Rare Disorders

I had the chance to attend the 2015 Global Genes RARE Summit and was inspired by the passion that the attendees at the summit shared.  The rare disease community is clearly one in which patients, researchers, and advocates look out for and help each other.  Unfortunately, this support is needed in part because they lack support outside their communities.…