Our family cares about rare. Rare diseases that is. Two of our kiddos have rare disease diagnoses and neither of them have a complete diagnosis yet (meaning there are still things going on with their bodies that we are looking for answers too through testing and the expertise of an excellent medical team).
We are now over five years into this journey since our second son was born appearing totally healthy at birth only to crash into a major health crisis within a few weeks of being born. In that time we've had a roller coaster of ups and downs and we've met many new people along the way. Some of those people are the doctors, nurses, therapists, phlebotomists, radiologists, social workers, respiratory therapists, and receptionists that have helped us navigate through the medical care we've needed for the kids. Some of those people are other parents who are raising kiddos with rare diseases or who have them themselves (or in the case of some families both).
Why the focus on rare? Though all three of my kids have various health issues there is something radically different between a disease, syndrome, or illness that most doctors have seen or at least heard of and one that requires you to luck into a certain type of doctor (that may not be available in all areas) and/or a certain type of uncommon test (that the provider you have may not be able to order). Unfortunately we have had doctors who don't know what is wrong tell us that nothing is wrong even when clearly there is something wrong, and we aren't alone. Sadly its an all to common theme. Or else a misdiagnosis is given... something more common that doesn't quite fit is made to fit depending on the range of expertise of the care provider.
Some rare disease facts from The Global Genes Project
*80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
*Approximately 50% of the people affected by rare diseases are children
*30% of children with rare disease will not live to see their 5th birthday
*Rare diseases are responsible for 35% of deaths in the first year of life
*The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
We have gotten very lucky with our boys. When Linus was an infant we didn't think he would make it to his first birthday and now he is five. When I was pregnant with Malachi I was desperate for a baby who would breathe normally and ended up holding another of my infants in my arms as they were turning blue. The road with him has been an ongoing management of crisis points as he has multiple life threatening things going on with him. Yet despite all the challenges he has beaten the odds and will be three and a half next week.