Google, Facebook and the Subculture of Rare Disease Medicine

  Google, Facebook and the Subculture of Rare Disease Medicine

Patricia Weltin

When my daughter first presented with hyperpigmented macules, I brought her to her pediatrician. When her pediatrician did not have an answer, we moved on to more specialized doctors. Since her only symptoms, at the beginning of our diagnostic odyssey were hyperpigmented spots and swirls, we started with dermatologists. After a year of seeing many different dermatologists, we found a dermatologist that diagnosed her with Hypermelanosis of Ito(HI), a disease that was thought to affect 300 people worldwide. Fortunately, there was a Facebook group set up for HI; my first connection to this rare world.

Like most parents, I needed to learn everything I could about HI. Through Google, I discovered OMIM and PubMed, which led me directly to the few researchers studying HI. I am certain that I have read every single medical journal article about HI.

When my daughter became sick at the age of 18, I learned from a scan of her jaw and a very thorough radiologist that Olivia had Chiari malformation. I had already learned that patient-run Facebook groups were an incredible resource in this space, so I joined a Facebook group for Chiari. I was not disappointed. I was able to connect what I learned about the many symptoms Olivia and Hana experienced over the years with Ehlers-Danlos Syndrome(EDS). Both Google and Facebook had served me and my children well since it can take 30-50 years to be correctly diagnosed with EDS.

Medicine, real medicine is happening every single day online. I have learned so much from these extraordinary patients and parents. I have also because I am uniquely working both disease specific and on the issues of all rare diseases, come to see how a simple post can lead to a new phenotype yet to be identified in a specific rare disease. This is what happened.

I am friends on Facebook with many people whose children have rare diseases. As I scrolled across Facebook one morning, I saw a post from a friend whose son has KBG. She had included a picture of his feet in her post, which caught my eye. Her post talked about a scheduled surgery to correct a tightness in his feet. They were to cut his Achilles tendons. Something about what she said in the post made me ask if her son had a sacral dimple. He did. Did her son have issues with his bladder? He did. Was her son a toe walker? He was. I told her I thought her son should be checked for tethered spinal cord syndrome. She kindly invited me into the KBG group and posed the question of the sacral dimple to the group. Within minutes, several parents had answered that their children had sacral dimples. Most of these children have been confirmed for TSC and a new phenotype for KBG was found, unnecessary surgeries were avoided and suffering was alleviated. That’s medicine.

But the knowledge I have gained from both Google and Facebook has led to other, more far reaching connections.

Of course, the disease I am most interested in is Ehlers-Danlos Syndrome. I am certain that this disease affects approximately 10 million people, mostly woman. I had always wondered if there was a connection between HI and EDS and then one day in a Facebook post in the HI group, I had the answer. A woman had posted a picture of her daughter’s hyperextended arm and asked if anyone else’s children were hypermobile. About 15 people answered. All but one had children that were “elastic,” “super-flexible,” and “bendy.” This was the first connection I found to EDS and an ultra-rare disease.

Recently, I learned that Timothy Syndrome, a disease that only affects 60 children worldwide, had a connection to Ehlers-Danlos Syndrome. There are 3 Timothy Syndrome families suspected of a connective tissue disorder or diagnosed with a connective tissue disorder. To me, this seems like a statistically significant finding.

As I continued to research and ask questions, I learned of other possible connections to EDS and other rare and ultra-rare disease. Could it be that the prevalence of EDS makes these just random connections? or is something else happening here?

Through Facebook, I started to notice that a lot of the rare moms had medical issues. I asked my rare mom friends the following question: How many mothers with a rare child suffered from a known chronic illness or an unexplained chronic illness? Of the 20 or so that answered, all but 1 suffered from chronic illness.

If you ask the right questions, you will be surprised how much you will learn. The parents and patients of the rare disease community are more than their data. Their knowledge, insights, and intuition are creating a subculture of medicine online that has become an invaluable resource to people living rare. We live in a world of abundant information. We need the medical community and researchers to recognize the absolute necessity of the patient voice and that unlike the generation before us, we come to you informed.

Dear Congress

Patricia Weltin

This story is not for the moms in the rare disease community because they are this story. This story is for the mostly old, mostly white, mostly men who sit in D.C. and decide who will and who will not get treatments.

Dear Congress,

My children are sick. My children will remain sick for the rest of their lives because my children do not have a treatment. Yes, this is hard to believe. What is more difficult to believe is that there are tens of millions more children just like mine who do not have a treatment. Some of these children are suffering, many are dying and many mothers struggle to do the impossible.

The specifics of my children’s disease are not important. We are the orphaned, the overlooked, the misunderstood. I would like to share with you from my mother’s heart, some of the events of our lives.

I would like to share what it is like to carry your child into an operating room. Olivia, my oldest, had her first surgery at the age of four. I carried her tightly in my arms, while my heart pounded against her tiny chest. She didn’t know. The operating room is shockingly bright when compared to the hospital hallway. The number of masked medical personnel was both comforting and horrifying. The dozens of other times I brought her into surgery were just like the first. She was always curious at first, but when the mask went on, the tears came, big tears from her frightened eyes. I had no tears. My tears were fought back so that my face remained the mother she knew, the one with the soft, reassuring smile. The minute her beautiful eyes were closed, the tears came, my knees buckled and I had to be helped from the OR. Every single time. This does not get any easier.

I would like to share the story of bringing my daughter, Hana, for her first surgery. She had her first surgery at the age of seventeen, so I was not allowed to go to the operating room with her. Hana’s surgery was to correct a malformation in her brain and to fuse her neck so that it would stop kinking her brainstem and destroying her quality of life. No starting off with a simple surgery for Hana. This was the big time. This surgery would be 7-10 hours.

As Hana was wheeled into the pre-op room, I followed behind. Once Hana was moved to a small room, I located a trash bin behind a partition where I was able to retch out the fear that was eating out my insides. Composed and wearing my soft, reassuring smile, I sat beside her until they took her away. I tried to reassure myself that the fear was gone and during the first few hours of surgery with the help of a friend, I believed it.

As the 8th hour neared with no word from the doctor, the fear was consuming me. I can not let this fear take away the mother Hana needs, so I find a bathroom where I retch until the fear is expunged. Her surgery lasts nine hours and Dr. B. assures me all went well, but this does nothing to prepare me to see my brave, stoic child begging someone to stop her pain. I try to soothe her with my voice which sounds calm and unafraid. She is given pain meds and put in the CCU. It is a long, restless night where Hana complains mostly of nausea. The morning brings worsening nausea and vomiting. She is having a bad reaction to the anesthesia. It takes three medications and many hours to get the nausea under control.

Hana’s surgical story has not ended. I am writing to you from South Nassau Hospital. Hana lies next to me with her hands wrapped in blankets because for an unknown reason they have turned as cold as ice. She is asleep, but her face is not peaceful. It is pain. In two hours, Hana will be 18 and all she wants is to go home.

When legislation comes across your desk about money for research or treatments, please think of Olivia and Hana and the millions of children like them. Think of their mothers whose tears are shed in the shower, into their pillows or alone in their car. Make the choice to end suffering. I have to stop here. I need to retch.


Patricia Weltin