Navigating the undiagnosed wilderness

Navigating the undiagnosed wilderness

We are on the diagnosis hunt again! To be honest it never stops but every so often it consume me and not for the right reasons. The expected reasons. Not the need to know why our little one is sick? The why to his many symptoms which don’t add up or make sense? The need to know what his future holds? These are questions we ask ourselves everyday. The questions that keep us up at night, the every day why’s.

No unfortunately the all consuming diagnosis hunt is back on because we are back in no man’s land. That dreaded place where we feel we are on our own when it comes to wanting to know WHY? Where appointments are thin on the ground and no one apart from us is looking at the bigger picture.

It’s back to treating his symptoms and see you in 6 months! Sounds ok, reasonable?

Ok, here is just 1 condition out of many he suffers from and an example of how individual symptom treating doesn’t work in our case.

Here are some meds for his reflux, see you in half a year? It does sound reasonable when you are talking about one condition. Just regurgitating some stomach content with a bit of acid. Doesn’t sound too bad? But when you take into consideration that his reflux effects his sleep causing apnea, his swallow causing choking because he can’t vomit due to poor muscle tone, aspiration because of his laryngeal cleft, behavioural meltdowns because trying to vomit and choking kicks off his ASD because he cant handle feeling panic, this results in time off school because he has a bad night, he has a chest infection or he is sleeping of a monumental meltdown which has left him catatonic. The list goes on…….. Yeh just take this 3 times a day and I’ll see him in 6 months. There is no why discussion? Believe me we ask but it’s not always well received and if it is there is usually a brief passing of remarks.

The knock on effects are easily lost when treating the individual condition or symptom. The bigger picture is lost because the explanation as to why at 8 years old he has reflux has not been found. There is a lack of understanding as to why his symptoms interact the way they do because he doesn’t have the “label” explaining why. No label, no guide for a gold standard of care meaning individual symptom treatment and each specialist looking just their speciality.

But what about the bigger picture? Why is the bigger picture so important?

Without a full understanding of the impacts of each symptom on all aspects of day to day life there is never the full understanding of the patient’s needs. When dealing with a know condition there is the understanding of almost every need a patient will have medically, emotionally, socially through their lives. When dealing with a rare condition this becomes harder as the patient group is smaller. Our experience, when diagnosed with a laryngeal cleft 6 years ago meant the information was gathered by us through days and months of research from a very small pool of research papers and 3 patient families advocating for the condition. We still have no care plan for how to deal with his cleft!

So what about undiagnosed?

Undiagnosed for us means a continuous fight for answers, for a care plan and for recognition of the bigger picture. When the interactions of multiple symptoms are not treated in a multidisciplinary manner we have found that even something as simple as medical notes may not reflect the full impact of the situation. This then means that information sharing is a huge problem because no one has a clear picture. This then causes valuable appointment time is used to keep everyone in the loop and so the cycle continues.

So why the all-consuming diagnosis hunt?

No man’s land for us is being pinballed between specialist with no real direction. This means there is no full taking into account what day to day life is like for our little one. This lack of understanding makes accessing services impossible, the much-needed support in an education environment nowhere in sight and a care plan is non-existent.

So again I am consumed by the need to find out the answers to as many why’s as I can. To present what I have found and hope that someone will want to join me on the hunt. Rare is all about thinking outside the box, undiagnosed is all about finding the box to begin with!

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