Spring 2015 a letter arrives through our door. It tells us Poppy our eldest daughter, has an extremely rare genetic mutation. What the experts think is the reason for her development difficulties. This was 2.5 years after submitting her blood samples to a study looking at children with an undiagnosed developmental problem.
She was one of 11 children known to have a gene mutation PPP2R5D.
Fast forward 2 years and I happen to come across a Facebook page for families with children diagnosed with PPP. I obviously joined straight away as did Rob and we instantly had a connection with the parents on there.
We got to see pictures and descriptions of the other children. Discuss signs, symptoms, therapies etc with parents in the exact same boat as us. The group felt like a life line to us.
For the last 2 years we regularly post and chat on the family page but between this group of parents it has become so much more!
PPP2R5D is now known as Jordans Syndrome. Named after one of the 1st children to be diagnosed.
Jordan’s Guardian Angel’s (JGA) is the charity that has been developed to support the children and families. Headed by Joe Lang, Jordan’s father.
Through this charity connections were made with some amazing minds to look at a cure for Jordan’s Syndrome! Huge donations have been granted along with many events family members have put on to raise funds for 9 universities to work together on a solution for our children. There is also a team of dedicated professionals working with families, researchers and medical personnel to raise awareness of Jordan’s Syndrome and the work the charity is doing.
JGA strives to connect families and as part of this organises a bi annual conference for all family members.
2019 was held in San Francisco and we got to attend!!
With the help of family, friends, neighbors and colleagues we raised enough funds to give back to the charity to cover our travel and accommodation expenses.
From the second we arrived at the hotel reception we were seeing faces we recognised. Such a surreal feeling knowing so much about families you have never even met before.
Families had travelled from all over the world to attend- England, Sweeden, Ireland, Australia, Argentina, USA
Long scary journeys were conquered with our kids to get to that hotel and spend time with our PPP family.
The weekends activities were kicked off with dinner and a disco. What better way for the kids to meet than on the dance floor!
Over the 2 days we had updates from the research team and the head of JGA. Explaining how a cure is going to be developed, the process of having the treatment approved and how it will be accessible to all the children across the world.
Parents got together to discuss fundraising events & ideas, dealing with difficult behaviours, effective therapies, good communication, self care and even the siblings had their own workshop.
In the background the children were all being cared for in a variety of settings – the pool, art, dance, cooking and music classes! Mine were enjoying it so much they didn’t want to leave!
The weekend was very emotional for all there but so rewarding. Meeting all the families face to face, seeing our children playing and chatting together.
Seeing the amazing dedication of the whole JGA and research team to our children and their treatment was the best feeling.
We’re in good hands and we will get to the point where we can help Poppy but we still need your help. If you follow our story and Poppy’s progress please (if you don’t already) follow our social media pages.
We are raising awareness and need strength in numbers!