Becoming part of the rare disease world, specifically the Alagille syndrome (ALGS) community, is something my family and I never anticipated.
My family and I realized early on the road to a diagnosis and, eventually, a treatment plan, that finding reliable resources for our journey would be essential. That’s why Rare Disease Day is so important to recognize and support.
In the rare disease world, information is everything. And finding the sources of that credible information is improving, but still a challenge. Along our ALGS journey, we continue to rely on organizations like the National Organization of Rare Diseases (NORD) and other organizations.
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After we received the diagnosis of ALGS for my son, we knew the rare disease had a 50% chance of being inherited from a parent. After learning more about ALGS, we realized it was likely my husband also had ALGS and we would proceed with genetic testing to find out for sure.
Once his diagnosis was confirmed, many factors made sense, including why my youngest daughter was always so itchy. Pretty quickly we were able to confirm that 3 out of 5 of our family members had ALGS.
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Following the diagnosis, I had no idea what to expect. I did as much research as possible to try to find the hope and positivity that comes from living with a rare disease. I tried to connect with other families with the same diagnosis, but it was hard, as everyone’s involvement and severity of ALGS are different. Not only can you feel alone a lot dealing with a rare disease, but there’s a lot of mental effort and emotions that go into ALGS.
Many times I have to explain to others why my kids are on certain medications that are meant for diseases they don’t have or why they need certain medications even though they look healthy.
Entering this wild world of dealing with a rare disease is also very complicated and confusing. Information and research tend to be limited, which causes you to spend hours researching, reading, and trying to find whatever information you can.
Most of the information is repetitive and a high-level overview, so any piece of new information you find is a breakthrough. You’re left to figure out a lot on your own, such as the best way to navigate this disease for your family member or yourself. Sometimes your team of doctors isn’t familiar with all the details of ALGS, which can leave you feeling alone and frustrated and looking for other specialists who will help you succeed while dealing with this disease.
That’s where rare disease organizations like NORD come in. Their role is to build awareness of rare diseases and help find resources to help patients and their families.
Being diagnosed with a rare disease or being the caretaker for a family member with a rare disease is hard. There are many struggles. Although it’s not a life I would’ve chosen for my family, it’s one we can’t leave and must learn to accept. I have started to find joy in the darkness of this journey by finding happiness in the ability to educate others on this rare disease or participate in research studies to help further the medical advancements of ALGS to hopefully give my children’s kids a better future if they were to be diagnosed with ALGS.
