National rare disease day.
Feb 28th marks the 14th national rare disease day.
In 2019 we received a message from a lovely mum-to-be, Rachel, who reached out to us regarding her sons diagnosis of #Schizencephaly. At 34 weeks gestation during an MRI scan, it was noted that Rachel’s baby boy had brain abnormalities which were diagnosed as Arachnoid Cysts and Hydrocephalus. Arachnoid Cysts are prevalent in Schizencephaly as this is a clear indicator of the condition. He was later diagnosed with Schizencephaly, Hydrocephalus, and Polimicrogiria at 35 weeks.
Rachel and her partner Jamie were told that their son’s serious neurological condition had a poor prognosis, they were offered a termination which was never an option for them, and advised their son would have no quality of life. Reaching out to Rare, Rachel was able to gain a greater knowledge and perspective of her sons diagnoses, taking it all in her stride she educated herself so that she could give her son the best start in life. Ruben was born on December 10th by elective C Section at 39 weeks, this was recommended due to the uncertainty of his health due to diagnoses, but there were no complications during or after his birth. He is now 14 months old and his cheeky personality shines, he loves to run around with his sister, and despite his diagnoses, he is proving that anything is possible and never to give up.
RARE asked Rachel:
What would we tell a new family: have belief in your child. They are incredible little warriors! If you believe you can, do all the research and intervention you can the second you can, there’s no reason why your baby can’t have the life you always imagined. If they have a rock in you, they too can become a little diamond the support network is there, in many ways. It was super scary at first as it was the unknown, but taking the time to understand the condition and learn potential outcomes will prepare you for all eventualities.
What have you learned the most about this rare diagnosis? It’s a minefield!!! And no child is the same. Early research and understanding are vital for early intervention.