When Connor was 12 weeks old he stopped gaining weight and had a very large belly, and tiny arms and legs. After five weeks Connor still hadn’t gained weight, which made my maternal, and child health nurse concerned.
We were sent to the GP the same day. The following week I was at an emergency appointment with the paediatrician and she sent us straight to the hospital where we stayed for the next two weeks.
After many tests they found a lump on his liver and told us he had cancer. We were sent to the hospital in Melbourne and stayed for a week while they ran tests on Connor.
Thankfully we were finally told it wasn’t cancer but we had to still find out why he was not gaining weight, so were sent back to Ballarat. Back home we met with a fantastic paediatrician who started talking to us about genetics.
My husband mentioned that a lot of family members had passed away from cancer and had suffered multiple tumours in their lifetime. Connor was eventually tested for Cowden syndrome, which affects 1 in 200,000 people worldwide. Connor tested positive. My other children Mia (5), Jeremy (6 months) and my husband were then tested, with Mia and my husband testing positive.
Cowden syndrome is a genetic condition that affects the pten gene and causes multiple tumours and puts sufferers at an increased risk of cancer. Cowden syndrome also causes sufferers to have a larger head due to their brain being larger, however the white matter isn’t as developed so some people suffer from developmental delay which unfortunately all the kids do. With Connor’s care we have involved a paediatrician, early intervention worker, ENT specialist, physio, speech therapist, genetic specialist, eye specialist and regular GP check-ups.
Right now raising awareness for Cowden syndrome and connecting with other Rare Diseases families is so important because it creates hope and reminds us that together we can create change.
Angela Frawley - Mother