Sienna’s Story

From Sienna's Mom:

"Rare”… is a lonely word. When a child is given a diagnosis of a rare disease this affects the entire family. Not only does the child have special needs, but so does the entire family. Rare is isolating, lonely, and sad.  In some cases rare is uncomfortable because others don’t understand.  In our case, rare brought on child protective services because “nothing made sense”.

This is how our family lived for years with our rare disorder called Pyridoxine Dependency. I remember searching books and medical journals to find info on this disorder. It validated, in just a tiny way, that perhaps I was not crazy.  Reading the words “pyridoxine dependency” within the pages was a sure way to sell a book to me.

Rare was isolating.  I had no support from anyone because ”they had never heard of it”. I did the educating, even to the doctors and in some cases that was not socially acceptable. This was my child though, and it was my job to get her the best care that I could.

At the time I had no idea that my constant battles with medical professionals would start to pay off. It started when I found an amazing neurologist from CHEO who would take on our child’s care. He was kind and understanding and validated my concerns. He then introduced us to the genetics team at CHEO.  For the first time since our “rare” diagnosis we were treated with kindness and care. They really wanted to help and as the time went on we were invited to be a part of a study.  I spoke to my daughter, who is now 11 about our journey and how we struggled to get the answers we needed for her and her sister. We talked about it being our turn to help the doctors help other families.

The day my daughter offered blood, urine and a skin biopsy to the genetics team at CHEO was a very special day. Sienna eagerly let them cut into her arm for the biopsy and with a smile held up her sample that was destined to pave a much smoother road for other families who are dealing with a rare disorder like Pyridoxine Dependency. 

That was the day that the word “rare” took on a new meaning for our family. Rare was no longer isolating.  “Rare” gave us unlimited tours in the research lab, special care from our team of doctors, and CHEO super hero capes for both Sienna and her service dog Jedi.  Rare was now special.  We no longer had to explain ourselves to doctors and we were no longer in a position where our care and attention to our daughter’s medical status was questioned.  Rare now means strength and hope.  “Rare” is no longer a lonely word. “Rare” is a special word that allows a family to celebrate differences and in our case, help other people. Thank you Care4Rare, when you care for rare you change entire families.