Keywords: Rare disease, nail-patella syndrome, support groups, online patient communities.
Citation: White W. A mother’s journey to diagnose her daughter’s rare disease. J Participat Med. 2013 Jul 24; 5:e30.
Published: July 24, 2013.
Competing Interests: The author is the founder and president of Siren Interactive, a web design and technology company referred to in this article.
Many patients with rare disorders are not diagnosed by doctors, nurses, or researchers, but by a fierce and driven group of detectives known as mothers. I know because I am one. When my third child, Casey, was born, there was trouble right from the start. I didn’t get to hold her or celebrate her birth like I had for her two older brothers. I remember lying there after giving birth and I could see the doctors and nurses standing around the warming table. I could hear something about a club foot and low blood count. I remember them taking her to the nursery for more tests. I remember them telling me they didn’t know what was wrong and that they needed to take her to a teaching hospital across town.
Ten hours after giving birth, I checked myself out of the hospital and my husband and I followed our newborn across town. Eight days later they let us take her home. They had casted her foot, given her a blood transfusion, and put her through an amazing number of tests. But at the end of the week they couldn’t tell me what was wrong. The doctors said she looked fine and that’s what I wanted to hear. I took Casey home and I felt relieved. Every 2 weeks, I took her back to the hospital to have her foot recasted.
After four months, we went back to the hospital for another casting. At this point we were seeing the resident, not the pediatric orthopedic surgeon. I made an offhand comment about how funny it was that I had a girl and that she had dimpled knees, which was different than the two boys. That rang a bell with the resident and he left the room. So I learned that it’s not normal for babies to have dimpled knees. We then spent the day in the hospital for more tests. Casey ended up getting an X-ray, an ultrasound, and an MRI. That night the surgeon called me and said that Casey didn’t have any kneecaps, and that he’d never seen another patient like this. He could tell me how knees were put together and what the kneecap did. He could speculate that he thought that she’d probably walk eventually but that she might never climb stairs. And that was a very painful moment; that’s not something a mother wants to hear.
Becoming a Detective Mom
That weekend I went to my church. I had never noticed before that it was not handicap accessible, and I just stood there and looked at all those stairs. At that moment, I realized as her mother, I was the one who is most responsible for giving her the best possible shot at life, and I was done with guessing. So I became a detective mother. I visited 10 hospitals and talked to every specialist I could find. I googled everything I could about missing kneecaps and blood problems. I read medical journals and I looked at x-ray images. I followed every forum thread I could locate. I hired a physical therapist to help Casey move through the physical developmental stages appropriately.
Two years later, I followed a thread that led me to a researcher studying something called nail-patella syndrome at Johns Hopkins. I looked up his number, got him on the phone, and I started discussing Casey’s situation. He replied, “What you are describing absolutely fits within that spectrum and that makes a lot of sense.” So I asked for a referral to a doctor in Chicago, where I live, whom I could see. He didn’t know of any doctors in Chicago who knew about nail-patella syndrome, but there would be a conference in 2 years, he told me. I went back to Casey’s regular doctor and shared with her the research that I had done independently on the internet, as well as my conversation with the Johns Hopkins researcher.
The physician took my materials, went in the back room, looked on the computer, and came back 5 minutes later and said, “I think you are right; Casey has nail-patella syndrome.” I wanted to know what do we do next? I wasn’t willing to wait 2 more years to go to a conference, so I went back to Dr. Google.
In the US, a rare disease is defined as one that affects fewer than 200,000 Americans. It’s estimated that there are 8,000 rare disorders. Although each one of these disorders only affects a very small number of people, all together that’s 1 in 10 people. That comes to 30 million people in the US; more than half are children. There are millions of detective mothers (and fathers) doing everything they can to try to give their children the best possible start in life. They do not want to be blindsided by what is going to happen but want to prepare their children (and themselves) for whatever will happen, whether it’s good or bad. I would have taken advice from anyone or any source that would’ve moved my daughter forward. If there had been a therapy or a device I would’ve been all over that too.
This experience also changed my professional life. At the time I was already running a web design and technology company, with pharmaceutical clients and a small subset of rare disease clients. But because of my personal experience, I changed the entire focus of my company to address the unique needs of patients, caregivers, and physicians dealing with rare disorders. My experience with Casey is typical of the stories we hear over and over again from rare disease caregivers.
From our 12 years of experience working in rare diseases, we’ve developed these insights:
- Patients dealing with rare disorders feel alone and isolated.
- Patients/caregivers seek a connection with others like them.
- Patients/caregivers use the internet to educate and support each other.
- Physicians do not have the time to educate themselves about rare disorders they may never see in their practice.
- Patients/caregivers are often the primary drivers of diagnosis and treatment.
- Patients/caregivers expect biopharmaceutical companies to participate.
Alone We Are Rare, Together We Are Strong
I also joined the board of directors for the National Organization of Rare Disorders (NORD) in Washington, DC. A few years ago, my company helped NORD launch Rare Disease Day in the US, which is the last day of February. We created the theme, “Alone We Are Rare, Together We Are Strong.” Unfortunately, my family’s long journey to diagnosis and treatment is far too common. This is why increasing awareness around rare diseases is important. For Rare Disease Day 2013 we created a rare disease infographic to help educate people.
Casey is 10 years old now. She walks and climbs stairs, although when she comes down stairs she does it one at a time. She wears leg braces at night, she sings, and she plays the violin. But this is important, not just because of one little girl with dimpled knees or even all the rare disease patients, but because it impacts all of us.
Innovation Happens at the Margins
Innovation happens at the margins first and then comes to affect all of us. Dr. Timothy Coté, former director of the FDA’s Office of Orphan Products Development, emphasized this concept while speaking at the 2010 Rare Disease Summit:
Most of our medical science comes from people with rare diseases. We learn what aging is through progeria. We learn that the DNA can repair itself through xeroderma pigmentosum. We learn what normal hemoglobin is through people with hemoglobinopathies … These people with rare disorders form the very fundamental basis of our materia medica. They’re what we studied in school. They’re what we understand in treating all disease that we ever reach. So somehow we need to communicate that — that these are not just odd things that happened to some people, but this collection of rare disorders really are the essence of what medicine is for all people.
Casey also likes to read, and she recently read a book about famous American women. After she finished, she told me she had a new hero. It’s Wilma Rudolph, who had polio as a child and wore leg braces and then grew up to win three Olympic gold medals.
- National Organization of Rare Disorders (NORD). Available at: http://www.rarediseases.org/. Accessed July 11, 2013. ↩
- FDA Basics: Tim Coté on Orphan Drugs. Food and Drug Administration. Available at: http://www.fda.gov/AboutFDA/Transparency/Basics/ucm213762.htm. Accessed 6/26/13. ↩
Copyright: © 2013 Wendy White. Published here under license by The Journal of Participatory Medicine. Copyright for this article is retained by the author, with first publication rights granted to the Journal of Participatory Medicine. All journal content, except where otherwise noted, is licensed under a Creative Commons Attribution 3.0 License. By virtue of their appearance in this open-access journal, articles are free to use, with proper attribution, in educational and other non-commercial settings.