How do you explain to the outside world that your son has multiple diagnoses that don’t fit neatly together?
I have a son who is chronically ill but doesn’t fit into a single medical diagnosis. I have labeled this as being a medical outlier.
So far, my son has been given several diagnoses, including Collagenous Gastritis - an extremely rare condition, Collagenous Colitis, Gastroparesis, Dysautonomia (POTS) and Hashimoto thyroid. My son’s issues have always revolved around gastro-intestinal bleeding, nutrient deficiency, extreme fatigue, low-grade fever, foggy mind, low muscle tone and so on.
For reference, I’ll briefly describe three of the diagnoses, so you’ll have some perspective:
Collagenous Gastritis (CG) https://rarediseases.info.nih.gov/diseases/10961/collagenous-gastritis
Collagenous Gastritis is a rare condition that primarily affects the digestive system. Signs and symptoms of CG may include nausea and vomiting, weight loss, abdominal distention and gastrointestinal bleeding. People with CG have increased buildup of collagen in the subepithelial layer of the stomach. The cause of the condition is unclear. Because of the small number of cases worldwide, no standard therapy for CG has been established based on randomized, controlled clinical trials.
Since there is no definitive protocol for treatment of this rare GI disorder, I often read articles on Crohn’s and ulcerative Colitis to see what treatments they are using. I personally view CG in the upper GI to be similar to those conditions in the lower GI. My understanding is that food does not break down in order to be absorbed, and leaks into the bloodstream instead. The result? Nutrients/minerals are not absorbed into parts of the body that need it, resulting in all kinds of problems. For instance, my son had a vitamin D level of 1 (doctors have said that they’ve never seen a level this low) and single digital ferritin (iron storage) levels that won’t budge. And on and on.
Dysautonomia refers to a wide range of conditions that affect the autonomic nervous system, including how the body regulates blood pressure. POTS (postural orthostatic intolerance) is a form of dysautonomia that affects the flow of blood through the body, thereby causing dizziness when standing. In POTS, there is an increase in heart rate and light-headedness on standing, as well as exercise intolerance, fatigue and a multitude of other symptoms.
Gastroparesis is a disease in which the stomach cannot empty itself of food in a normal fashion. Symptoms include heartburn, nausea, vomiting, and feeling full quickly when eating.
Several of the diagnoses are likely auto-immune conditions. While having multiple auto-immune conditions is not uncommon, it does complicate how to address our son’s situation. Symptoms overlap making it a challenge to identify the best, or “right” solution.
I so much want to hang my hat on a particular diagnosis and be the parent that runs through the world working to solve it. I could bond with other people and belong to a community of like-minded, laser-focused fighters. But I just don’t have one major diagnosis that explains everything. I hate to admit that I'm almost jealous of those laser-focused fighters.... which doesn't feel right either. I just soooooo very badly want to "belong!" #medicaloutliersunite
So, HOW do you explain to the outside world that your son has multiple diagnoses that don’t fit neatly together and don't have a standard protocol to treat?
Most non-medical people we know believe that the medical world can put a diagnosis and solution or protocol on pretty much all issues. We’re not so lucky. We simply don’t belong to any one diagnosis or set of symptoms or medical grouping. We often get questioning and dazed looks from others on how could all of this occur in one person - including doctors, nurses, lay people, friends, et al.
Even so, we continue to hold our heads high. We are a medical outlier .... and that’s okay, because I know in my heart that we can’t be the only ones. We will continue to search and fight, firmly believing that there’s always hope.
Disclaimer: I am not a doctor or therapist. I am not dispensing advice, but simply giving food for thought, discussing my personal experience in relation to parenting a child with chronic illness and the impact it has had on my family. I am not recommending any particular way of parenting; just sharing my experiences. Please consult your physician or personal therapist for issues you are concerned about.