When your label is a Question Mark : When ‘Undifferentiated’ is part of your diagnosis.

The term undifferentiated means : not divided or able to be divided into different elements, types, etc.

My 7-year-old little boy has an undifferentiated autoinflammatory disease, he has Crohn’s, interstitial lung disease, has had macrophage activation syndrome, and what looks like systemic JIA. He is currently on treatment and is functioning very well but his disease could also reappear at any time and he lives with multiple potentially life-threatening concerns. His technical autoinflammatory diagnosis, is currently Undifferentiated Autoinflammatory with SJIA like symptoms – it’s a mouthful, and it’s fluid.

Recently, I had an interesting conversation with my son, where he asked me if we should just stop looking for his diagnosis. He told me that we and his expert doctors have been trying for 6 years to find him a diagnosis but maybe we should just give up!

Daniel 7 yrs old

I was shocked and it is painful as a parent to see your child struggling with who he is. Now, anyone who knows my son knows within a few minutes of talking with him that he is very excited and interested in science. He is fascinated by biology and comprehends his immune system, and cell function, and how his body works more than any other seven-year-old I have ever met. He loves learning and wants to understand just about everything about how things fit together and how they work. So, when ‘undifferentiated’ is part of his diagnosis, I can understand how he might feel misunderstood. Almost as if ‘undifferentiated autoinflammatory’ means MYSTERY X Autoinflammatory Disease, you don’t fit or belong and although he technically does have a diagnosis autoinflammatory is already often not understood or can be misrepresented and is often confused for autoimmune or frankly has never even been heard of. So, when you add ‘undifferentiated’ to that it’s as if you’re being described as an unsolvable puzzle that no one understands and only few are willing to try.

For rare disease patients who are struggling with pain and illness that comes from their bodies, the last thing they need is to also be misunderstood by their communities too. But they are. The pain and isolation that they feel is a result of their body failing them but also an emotional struggle of feeling alone, like no one understands, and that no one will EVER fully understand. My son feels like his body, who he is, doesn’t make sense to anyone – even experts.

I told him that we would keep searching – that we would always speak out – because despite how rare these diseases are Autoinflammatory disease research has improved and evolved a lot, even over the last ten years, and even though his future may be uncertain right now him, that continuing to share our story and fundraising for his hospital care for education, resources, and research could make a big impact on his – and possibly someone else’s future. I want the world to recognize the complexity, seriousness, and struggle of what living with an autoinflammatory disorder is like for my son so that he can be shown love, compassion, and support from the world when he needs it. Just as the world recognizes the struggle, hardship and pain of children with other more familiar diseases, I hope we can recognize that rare disease kids are fighting alone and need our voice.

We all want to be seen and heard, and I have reassured him that labels don’t matter that he has a loving community who cares and supports him and sees his struggle. But in a society that loves labels ‘undifferentiated’ is a hard diagnosis and a very uncertain future.

His disease may not NEED a label, but without answers, and without research it’s a matter of life and death for Daniel.

So, babe, we won’t stop searching for Daniels disease, we will never give up. You’re not alone. I love you.

Additional Information on Undifferentiated Autoinflammatory disease by the Autoinflammatory Alliance:

Leave a Reply

Your email address will not be published. Required fields are marked *