For the last 4+ hours straight I’ve been researching what the frick Cowden Syndrome is.
I received a letter today from an extremely reputable, London-based hospital to confirm that Riley has been diagnosed with this condition. Suddenly Zoella’s latest Instagram post about having a sore hip isn’t all that interesting anymore.
It feels like a downward spiralling, never-ending path at the moment.
To start with I was told that Riley was deaf and needed to have Grommets. And that this was the cause for Riley not responding to his name, loud sounds or giving any eye contact. After the truly traumatic ordeal of sedating Riley in the worlds smallest room with 3 huge men telling me to hold the gas mask on my son’s face, I find out later his hearing was perfect!
I knew the woman who checked Riley’s hearing first off was at fault. She perceived Riley as a ‘naughty’ 2 year old who wouldn’t cooperate and therefore gave him as little time and attention as possible. However I mostly blame myself for not pushing for a second opinion. I wish I could wind time back and kick ar$e!
A week or so later after the above event. I received a letter for Riley to see a pediatrician for a full examination. This was triggered from Riley’s 2 year developmental check.
A few weeks after the examination I had it there in writing. Riley was/ is Autistic, with global development delay and sensory processing disorder. This is in fact the cause of no eye contact, little awareness and him being unsociable amongst other things.
Since June 2015 (diagnosis received) every day has been a learning day. Every evening has been filled with Riley laughing his head off, bouncing on his bed at all hours and waking up his little sister (13 months younger)
I can’t believe 2 years has almost passed since receiving Riley’s diagnosis! Where has the time gone?!
Each day seems to be something different to deal with. If it’s not a speech and language appointment it’s the dietician. If it’s not the dietician it’s the sleep clinician or specialist dental team or Occupation therapy or the 6 monthly pediatrician appointment that creeps around so quickly!
Then there was choosing Riley a primary school! I got to say it…life sucks at times. I really wish I could stop the clock just for a day to catch up with everything.
A few weeks after Riley was born Hemangiomas appeared about 8/9. A very large one on his head, one on his face and the rest covered his tummy and back. After seeking advice from a dermatologist I was given a solution which helped to reduce these at a much quicker rate offering no side effects.
The Hemangiomas on Riley’s head raised a lot of questions and as to whether this was growing on the inside and if there was fluid on Riley’s brain. He’s now had 2 MRI scans which have both been negative – thank God!
Blood test were carried out at the time of the last MRI scan which confirmed that the ‘Autistic’ gene runs in my body/ family line.
I didn’t really understand how this could be or what this even meant and made an appointment with the genetics team. After many examinations have been carried out on Riley’s DNA it has now been confirmed Riley has Cowden syndrome!
From what my last 4 hours or so of research has confirmed, is that it’s a rare condition that 1 in 200,000 get with an increased risk of developing several types of Cancer.
I keep researching the same thing looking for a different answer, a different outcome. Why my boy? Hasn’t he been through enough!?
If anyone out there can speak from experience or possibly offer me any advice I would be most appreciative.