BiographyIsabel was a desperately wanted rainbow baby. I had an ectopic pregnancy with emergency surgery, then two years later I miscarried a baby. After that nothing. We bought a puppy, she became my baby as I’d given up hope. Happily I became pregnant again and Isabel was born.
From birth, it became clear that Isabel was not thriving. She didn’t gain weight and struggled to feed. Milestones were not met and she looked very poorly. Isabel had hypotonia and couldn’t lift her head or move. She didn’t babble but she smiled the most beautiful smiles.
Before her first birthday she started having seizures. We spent a lot of time staying in hospitals and making scary ambulance trips. Isabel was diagnosed with epilepsy and autism. She also had hearing loss and was given hearing aids.
Eventually Isabel, with great support from her physiotherapist, learned to walk with a walker. She had a fantastic speech and language therapist and learned some phrases.
We were referred to the 100,000 genome project. Eventually, they had news for us, it was not the news we wanted. Isabel has Krabbe Disease, a life-limiting genetic condition.
Isabel is very well supported by our family, her school and hospice. She is currently a happy girl who is enjoying life. We are making memories and helping Isabel live her best life.
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