Sometimes, we get involved in facets of our career or volunteering because of something that has happened in our personal lives or the lives of people close to us, especially when it concerns children with rare diseases.
That’s exactly what happened with Adriana D Glenn, Ph.D., MA, MN, FNP-BC, CNE Assistant Professor, RN-BSN Program Director & Academic Coach at The George Washington University.
Daily Nurse spoke with Dr. Glenn about her research regarding how families of children with rare diseases use technology for communication.
How did you get interested in researching how families of children with rare diseases use the internet for communication? What drew you to it? How long have you been doing it?
My interest in how families of children with rare diseases use the internet or e-health communication directly resulted from my personal experiences. My daughter, Avery, was diagnosed with Alagille syndrome, a rare genetic disorder affecting the liver, heart, and other parts of the body. One of the major issues resulting from the condition is liver damage caused by abnormalities in the bile ducts. However, because the condition is rare, many healthcare providers are unfamiliar with the disease, its trajectory, or how to manage some symptoms.
Out of desperation and the need for information, I sought knowledge about the disease. I felt incredibly lonely, scared, and vulnerable, and I had experience as a provider in the healthcare system! While searching for the answers to my questions, I constantly thought, “I have a healthcare background. I can read and understand the research. What are parents doing that have a child with this disease and do not have the background, connections, resources, or knowledge?”
The parents of children with rare diseases were underserved and understudied. We did not know how they accessed information, what type of information they were seeking, and how they decided to act or use what they found in searching the internet for answers and support. And thus, I began to explore the issue, which needed to be better described and defined in the research literature at the time.
My daughter died in 2012 at the age of 4 years due to complications of Alagille syndrome. While I no longer directly study how families of children with rare diseases use e-health communication, I have continued to explore the influence of e-health, telehealth, and the internet’s impact on underserved and marginalized populations.
I will always be connected to the Alagille community. They have my heart, as I have been in their shoes–scared, alone, and overwhelmed.
What’s the most difficult thing these families deal with? How does communication with other families via the internet help them? Do they tend to try to find families of children with the same disease or anyone?
The most challenging thing these families deal with is feeling helpless and lonely. Their child is diagnosed with something rare, and physicians often have limited information or sometimes even dated information (i.e., they learned or heard somewhat about the condition in medical school and have not had a reason to keep up with the diagnostics and treatments).
Furthermore, while they [the parent(s)] know intellectually that others have children with the condition, they likely do not know anyone personally (at least at first). So they feel very lonely and scared for their child and their future.
The amazing thing about my research is that I had the privilege of seeing the transition from message board posts at two in the morning and that parents waiting with bated breath for a response to the migration to social media platforms like Facebook, where they can post a question or concern and get an almost immediate and helpful reply. The fact that now parents can get immediate responses from parents from around the world in a matter of a few minutes has been huge and very rewarding to see the change.
This shift in communication speed and platform has helped parents feel not so alone. It has provided immediate and helpful information–ranging from managing a worrisome symptom to what one may expect at a procedure or even referrals for places to seek more information or health care providers. There have been many positives to the expansion of knowledge and access via the internet.
What do families get from this communication?
Families can communicate with a community that ranges in age and experiences and come from around the world. The families get access to practical information. Much of what physicians and other healthcare providers share with parents/families are from a pathological, pharmacological, or therapeutic realm.
The information, of course, is important. However, families often crave how to deal with day-to-day struggles. What families need and get from communication from the internet is how to manage the day-to-day. For example, with Alagille syndrome, one of the major symptoms of the disease is the intense/severe itching (cholestatic pruritus) the child feels as a result of the excess bile in the blood (the exact mechanism of this itching is not well understood). The child will scratch their skin raw, and it is not uncommon for a parent to go into their child’s bedroom first thing in the morning and find bloody bedsheets somewhat akin to what one might expect at a crime scene. It is scary and traumatic for parents and the child.
In the Facebook parent group for Alagille, parents found out about things they could do to ease/reduce the itch. Furthermore, because of the wide availability of the internet and social media, when clinical trials became available for a medication called Livmarli™ (maralixibat), many children with Alagille were eligible to participate because the parents were connected and engaged with Facebook and the internet. As a result, Maralixbat, an oral solution for treating cholestatic pruritus in patients with Alagille syndrome one year of age and older, has since been approved for use in this population thanks to the efforts and information from these children and their families. This is an amazing and powerful example of the benefits of this type of communication.
I have also learned and observed in this research area that families fly and meet one another, and the families and children become really good friends.
What do you like most about conducting this type of research?
I enjoy seeing how empowered people become when they have access to information. They become more engaged with their healthcare providers and can confidently ask questions and follow up on the information they obtain. We expect patients to be healthcare consumers, yet we need to teach people how or what this looks like. I also love seeing how technology and information evolve relatively quickly.
What are the biggest challenges for families of children with rare diseases?
The biggest challenge for families of children with a rare disease is to garner interest in their cause. Because rare diseases are defined as a disease or conditions affecting less than 200,000 people in the United States (Orphan Disease Act, https://rarediseases.info.nih.gov/about), funding for treatments and cures are not the priority–as, of course, it is not lucrative for pharmacological companies. This is a source of frustration and adds to feelings or a sense of helplessness. Also, there is still a lot of trying to understand the information they [parents] do find online and how to best use or act upon the information they uncover. This is especially true when you do not have a healthcare background.
What are the greatest rewards they get from this type of communication?
The most significant rewards families of children with rare diseases get from accessing and using e-health communication are hope, encouragement, and a sense of community. Having a community of people who share similar experiences is very helpful to one’s emotional and mental health.
Social support–one of the concepts that came out of my research–is very important to many communities. There is ample research illustrating the importance of social support in managing many conditions. Furthermore, as mentioned earlier, accessing information is hugely empowering. When you have a child with a rare disease, you are that child’s best and biggest advocate. Having internet access and communication helps to support effective and efficient advocacy for your child.
Social support–one of the concepts that came out of my research–is very important to many communities. There is ample research illustrating the importance of social support in managing many conditions. Furthermore, as mentioned earlier, accessing information is hugely empowering. When you have a child with a rare disease, you are that child’s best and biggest advocate. Having internet access and communication helps to support effective and efficient advocacy for your child.
Is there anything important for our readers to know?
The internet has its positives and negatives, like everything in life. It is important to be aware that while online communication/e-health communication has been a blessing for many people, there can also be dark sides and misinformation. Therefore, your healthcare provider must address serious symptoms and concerns.
It is not in one’s best interest to rely on parents/strangers to tell you when to contact your physician/healthcare provider. If your gut is telling you to call, do not post pictures or ask the advice of laypeople–contact your provider.
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