The story of Zara
We knew from 26 weeks of pregnancy that our son Rowan would be poorly but we didn’t realise just how much. He was born by c section at 36 weeks weighing 3lb 14, he seemed ok for the first hour but then was rushed to nicu with extremely low blood sugar, low body temperature and conjugated jaundice, he was a very sick boy and we didn’t know what the future would hold. Tests showed he had adrenal insufficiency and hypothyroidism. Whilst it was great to have a diagnosis it was a diagnosis that was life long and life threatening meaning daily medication and an uncertain future.
When Rowan was 3 months old he had an MRI scan which showed his pituitary gland didn’t form correctly so was not working. This meant more medication and a daily injection of growth hormones.Â
Things get scary in times of stress, such as illness or serious injury, as Rowan’s body does not produce cortisol so his blood pressure and blood sugar drop rapidly sending him in to adrenal crisis. Adrenal crisis is life threatening and requires immediate medical attention. Rowan has had 3 adrenal crisis in his 2 and a half years and they are the most terrifying experience, seeing your baby’s eyes glaze over and them drifting in and out of consciousness is something you will never get used to. Thankfully an injection of hydrocortisone and subsequent hospital admission can save his life.Â
Rowan is such a happy child but, unfortunately , he is showing signs of learning difficulties due to his condition.
My daughter has appeared healthy until she was 9 years old when she was taken to hospital as we could hear her heart squeaking through her chests. Tests showed she had mitral valve regurgitation, an enlarged aorta and she was hypermobile. Genetic tests haven’t found a specific cause so it seems she is so rare that her condition doesn’t have a name. She is undergoing monitoring so hopefully things will not deteriorate further.
I myself suffer with a rare disease and have idiopathic intracranial hypertension. This condition causes symptoms similar to a brain tumour, intense agonising headaches, vision disturbances, dizziness, weakness and fatigue. I’m still learning about this condition as I’ve only been recently diagnosed. It took many months of pain and suffering before someone listened to me and investigated my symptoms. Although they’ve not gone medication has helped to alleviate them.