Daphne is 4 years old – she has been diagnosed with PTEN since she was just over one although they knew since birth that she had a genetic condition. She was born 11 weeks early and weighed only 2lbs. She had a white birthmark extending from the tip of her nose to her forehead, as well as an odd linear sebaceous that made the doctors in the NICU take a closer look during initial exams.

They found multiple brain malformations, which were more clearly identified when she was large enough to handle an MRI. Her malformations are polymicrogyria (right frontal lobe), hemimegalencephaly, and agenisis of the corpus callosum. She started having seizures at 1 month old, and these progressed to infantile spasms, which she is still treated for today. She has several diagnoses due to her condition including hypertonia, global developmental delays, kidney stones, lipomas and other benign tumors.

She started walking just before she turned three and has a communication device that she is quickly progressing on using in addition to sign language for communication. She is a smart young lady who loves school, cartoons and getting messy. She is brave, strong, and we are very proud of her.

Our son came to us at birth through foster care, and by 20 months he was ours forever through adoption. He was born at a normal birth weight, but his head circumference was significantly larger than babies of the same birth weight. He continued to develop normally in all ways – physically and mentally – except his head. Doctors were concerned enough that at six weeks they did the first MRI. Nothing explained the large size of the head and the head continued to overgrow with no explanation. Nikolas visited Children’s Hospital of Eastern Ontario to Genetics around his first birthday. The Dr. was quick to assess and recommend a test to rule out PTEN. The result was positive for a PTEN mutation. Aside from a rapidly growing head, Nikolas continued to develop normally in many ways. He said his first at nine months, cruised furniture at ten months and walked by his first birthday. Nickolas enjoyed looking at books and had a huge interest in letters and numbers. He was social and bright. He was learning quickly and engaging with the world around him. He was being followed closely by a pediatrician for development/skin observations, and so she could order yearly ultrasounds of his abdomen and thyroid. At 18 months developmentally something changed. His 50 words went down to 15 that he used regularly and ten that rotated in blocks. He used his words less and seemed way less interested in communicating. He continued to develop new words, but then new words would disappear after just a few weeks. Nikolas visited a Children’s treatment center just after his second birthday he was diagnosed with moderate Autism.

Just before his 4th birthday, he became quite ill. He had a chronic fever, chronic sinusitis, unwillingness to eat and choking for three months. The Doctors admitted Nikolas for a fast growing mass on his tonsil. They removed his adenoids and tonsils biopsying the tumor to determine it was benign. His head continued to grow at a rapid rate, and just after his 5th birthday, they did an intracranial monitor for 24 hours. It came back normal. Nikolas is now 5 and half years old (cause that is how five-year-olds measure time). By the age of one, he taught himself to all his letters and numbers up till 10. By two, Nikolas was reading most words. By three he was reading books. He reads at a grade three level and taught himself all the phonetic rules. He is a pleasant boy who has worked through the challenges Autism has brought him. He loves swimming, music and is now a fan of memorizing which bands write which song, lyrics and enjoys memorizing 5-minute segments movies we will let him watch. He is in school, and his teachers think he is an absolute joy. He is working hard at making friends, learning to play socially and this summer he will play soccer on a team. We think he has one of the best smiles on the planet. PTEN will be such a big part of his life but such a tiny part of who he is.

My name Ross McRae I’m from Scotland just about to turn 21. I was diagnosed about 14 years ago maybe longer with Cowden’s Syndrome. At the time of diagnosis, I was one of the only cases known about in Scotland and possibly the UK.  My symptoms are maybe considered minor   compared to maybe some of the other stories you may have heard but they still present their own challenges.

My symptoms vary from skin tags to lumps in various places.  The biggest challenge was growing up with a large head size as it resulted in me being heavily bullied when younger.  The condition also provides additional challenges ranging from insecurity to scar pain or body stiffness.  I’ve had half a dozen operations and once contracted a nasty infection that made me nearly seriously ill.  

The reason I’m writing to you is I wanted to share my story and hope that I can help raise awareness of this, maybe find out if you can put me in touch with some people maybe in the UK or elsewhere who are familiar with the subject of Cowden’s as well as learn and hopefully be kept updated with what is happening in the states in terms of treatments and research.