Joshi's Rare Disease Day Story
Caroline Maria Thorpe from Gran Canaria, Spain, was thrilled to welcome her second child, Joshua, into the world in October of 2013 after spending most of her pregnancy on bedrest. However, all was not well with her newborn and he was immediately put in an incubator after birth. Caroline states, “I will never forget the feeling of emptiness after he was born while I lay there without my baby in my arms.”
Caroline states, “he went through a very critical stage but managed to fight through it. Bit by bit, he came off the oxygen and could eat through his mouth. We were taught how to care for his medical needs and work with all of his medical machines…one was attached to his foot to measure heart beat and oxygen level and one to his chest for his apneas.” Joshi has been engaged in physical therapy, speech therapy, and occupational therapy from a very young age and also sees a number of specialists, including rehabilitation, a neurologist, a nephrologist, a gastroenterologist, and an ophthalmologist.
“Going home and all being together was amazing. No matter how scary it was, the four of us were always together and grew more and more united as the days went on.”
It took the Thorpe family two years to find a diagnosis: “every day of those two years all we could think of is the necessity for us to find a diagnosis. We were not going to give up until we got one.” The Thorpe family celebrates the day Joshi was diagnosed every year. “Even though we were given the name of a syndrome which included many complications, we were happy to know we could actually have more information about him and connect with other incredible people in the same situation.”
It took the Thorpe family two years to find a diagnosis: “every day of those two years all we could think of is the necessity for us to find a diagnosis. We were not going to give up until we got one.”
As for Joshi now…”he is such a loving child. He spends all his time smiling and cuddling us. He loves to be with us at home watching YouTube Music Videos, playing with us and with his toys, having all of our attention and eating ice-cream. He loves going out for walks and never gets enough of this.” Joshi gets around by “crawling on his bum,” communicates his needs with his eyes, through movement, and with sounds and his family is able to recognize and understand most of his needs in these ways. He makes continued progress and seems to learn something new everyday. Caroline describes Joshi’s ability to communicate as “amazing…a gift.”
The Thorpe family does experience some challenges. Joshi has some difficulty expressing emotions and will hit himself when he is in pain or frustrated. Caroline states, “this has been one of the hardest aspects of his care and we are working on this all the time.” Joshi has also recently developed seizures that have been quite difficult to manage and he continues to have breathing issues.
Caroline highlights the strength of her family in raising Joshi, “the four us together make our PURA Perfect family and we would not change a thing. My husband is simply amazing with him. It melts my heart watching them together. His sister, Angie, adores her brother and understands him. She looks after him and the love they share for each other is unique. Angie has grown up to be an amazing girl and I am so proud of her and her values and principles in life. They are both PERFECT in their own ways. I wouldn’t change a moment of it.”
“It is essential for those with rare diseases to feel accepted and understood by those around them.” - Caroline Thorpe
Caroline believes raising awareness for rare diseases and conditions is important: “It is essential for those with rare diseases to feel accepted and understood by those around them.” Caroline works at a school and each year since Joshi’s diagnosis, she hosts an event to celebrate Rare Disease Day. The first year she hosted the event, she was shocked that not one student, nor adult, knew anything about rare disease or Rare Disease Day. Year after year, she has seen the cumulative effect of her advocacy efforts: “It is amazing that the brothers and sisters of children I had in earlier years already know about Rare Disease Day and even bring the crafts we did in previous years.”
Referencing the Rare Disease Day slogan, “Rare is Many. Rare is Proud. Rare is Strong,” Caroline states, “There are many more people than you could ever imagine going through this. Those with rare conditions are considered ill and weak and they are FAR FROM THAT. For me, my son has an inner strength and I admire him so much. He has fought through many complex situations and never given up. And most importantly, we are proud of him and the lives we live. We have been given an opportunity to live a life full of love and courage, and with love and courage, anything in life is possible.”
"We are proud of him and the lives we live. We have been given an opportunity to live a life full of love and courage, and with love and courage, anything in life is possible.” - Caroline Thorpe
The PURA Syndrome Foundation is grateful to the Thorpe family for sharing Joshi's Rare Disease Day story.