A Day in the Life of a Rare Disease Patient: Empowerment

“Everything I know about my condition is due to my own research on the internet. I am unaware how much of this is correct or what I’m missing.” – Patient, Morquio syndrome.

“On many occasions I end up explaining and ‘educating’ professionals about my condition as they have little knowledge and/or have not seen a case like me before.” – Patient, pituitary apoplexy and Cushings disease.

“It is the most isolating part [that there are] no groups, no one to share the illness with.” – Patient, mesenteric panniculitis

Rare Disease UK published the results of a survey to 1203 individuals affected by a rare disease in January (link) to understand their realities. I will post summaries of four sections in the report: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.

We trust our healthcare providers more than any other profession. In fact, nurses, doctors, and pharmacists occupy all three of the top most trusted professions, according to a Gallup poll (link). We trust them and rely on them for the medical information and advice that we need for our wellbeing.

While this system of trust and unidirectional information flow works with common diseases that are well covered in medical schools and diagnosed and treated routinely in hospitals, the system breaks down with rare disease sufferers.

Over half of the survey respondents indicated that they did not receive any Screen Shot 2016-02-08 at 5.17.52 PM valuable information from their physicians and either had to look up the disease on their own, reach out to an advocacy group, or never received useful information on their condition. While 68% of respondents felt that they had sufficient knowledge of their condition, many had to become their own disease experts and have become educators to their physicians.

This role reversal makes it difficult for the undiagnosed or those seeking more information about their condition to find that information. If healthcare providers – the traditionally trusted information sources – cannot provide the information needed by rare disease sufferers, where can these patients turn?

This is where advocacy groups and the patients themselves come into play. Advocacy groups like Rare Disease UK – and Global Genes and NORD in the US – help by empowering patients to organize and consolidate their collective knowledge. Communities such as PatientsLikeMe and Inspire also enable rare disease sufferers to share their experiences, challenges, and treatments. At WeHealth, we use crowdsourcing to leverage our social networks in order to connect these patients to advocacy groups and to each other so that they can share their knowledge.

In an earlier post (link) that I wrote about Matt Might’s son, Bertrand, we saw how crowdsourcing can create a community where there was previously nothing, and how powerful that community can be for empowering those affected and helping them move forward toward finding a treatment. These communities free rare disease sufferers from their isolation, where misinformation, misunderstanding, and misdiagnosis run rampant, and enable them to heal.

View other articles in the “Day In The Life” series: Patient Empowerment,Diagnosis, the Undiagnosed, and Research.

The Casualties of Ignoring Rare

People are dying due to misdiagnoses. That is not new news and is no secret – especially to those in the rare disease community – but I was reminded of the fact in an article published this week.


The article tells the story of a 21-year-old mom, Hollie (pictured), who died last Sunday from Langerhans Cell Histiocytosis (LCH), a cancer-causing disease in which white blood cells are overproduced. Despite displaying an extreme thirst, “gulping pints of water every five minutes,” and chronic fatigue – two hallmark symptoms of LCH – doctors diagnosed her with depression and sent her off.

It wasn’t until Hollie fainted and a brain tumor was discovered, that she was finally diagnosed with LCH. By then it was too late, and she died after a year of chemotherapy. When diagnosed early enough, over 90% of LCH sufferers survive the disease.

When I speak with advocates for rare diseases, they tell me about how they wish they knew what they know now at the onset of their symptoms. At worst, a correct diagnosis provides peace of mind and community with fellow sufferers. At best, getting diagnosed earlier can stop disease progression and save lives.

At WeHealth, we are working to strengthen that community by using the power of our social networks to spread information, such as the symptoms of LCH, and get it to those in need before it is too late.

Rare diseases are often misunderstood by outsiders and misdiagnosed by physicians, so it is important that we get the word out. Knowledge, in this case, can SAVE LIVES.

Living with a Disease Unknown to Science

Imagine that you have a newborn child and nothing seems right. Your child cannot stay still and is in constant distress. Every attempt that you make to calm your child only heightens the distress. At first, doctors say that there is nothing to worry about, that your child will grow out of it. Finally, after six months, they acknowledge that something is wrong, only to tell you that they do not know what is wrong. The disease is unknown to science.

These were the first six months of Bertrand Might’s life, as told in the New Yorker’s, One of a Kind, an article about the Might family’s quest for their son’s diagnosis. The quest took 3 years and involved several wrong diagnoses, including a false death sentence, flights across the country, and general uncertainty about their son, their unborn daughter, and own lives. They felt that they had their “child hot-potatoed back and forth, nothing getting done, nothing being found out, nobody even telling [them] what the next step should be.” Finally, a Duke sequencing study confirmed that a mutation in Bertrand’s NGLY1 gene had caused the disease, making him the first patient ever diagnosed with NGLY1 deficiency.

Now they faced a different problem: n=1. Bertrand was the only child with this disease. If there are no other patients suffering, there are no advocacy groups to fund research, no government grants, no incentive for drug development. “It’s not actionable,” doctors said. There is nothing that you can do.

The Mights took action. Matt, a computer scientist, used his knowledge of search optimization and reputation in the internet community to design a viral blog post. He engineered “Hunting down my son’s killer” to show at the top of searches that parents in his situation might have made. Half an hour after publishing, people started sharing the story all over Twitter and by the end of the day it was the top story on Reddit. The post had gone viral.

A week later, the post reached a geneticist in Turkey, who had just sequenced two patients with NGLY1. The progress continued to snowball. Matt Wilsey, a Silicon Valley entrepreneur whose daughter had NGLY1 deficiency, read the post and connected with the Mights. A community had formed. Advocacy groups were set up. Scientists began sharing data. Treatment candidates were discovered. While there is still progress to be made, they faced a “non actionable” situation for an “n of 1” disease, took action and found hope as a community.

This story illustrates the power of the crowd to make a difference in the lives of children who otherwise do not have hope. Our social networks have vast reach, and simply sharing a message can help immensely, as seen saw in the story of NGLY1. Together, we can transform these “n of 1” diseases into productive communities for raising awareness, funding research, discovering treatments, and giving hope.

Links: Matt’s original article (link), the New Yorker piece (link), and a video of Matt talking about how sharing on the internet has helped the NGLY1 children (link)

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.… Continue reading WeHealth for Rare Disorders