Lillie-Mae was born with no health issues. She was quite poorly for 5 weeks at 4 1/2 months and at 6 months a nurse was doing Lillie’s 4 month check and noticed Lillie wasn’t tracking. She was referred to the community paediatrician and from then a lot of tests were done. At one year old Lillie was registered blind and also had to have an MRI where it was picked up her cerebellum and pons were very small and also her head was small.
We were referred to genetics who ran lots of blood tests but didn’t come up with any answers. They then sent bloods to Amsterdam under the DDD study, they still had no answers so sent more to another country where they discovered she has pch type 2.
Lillie is blind, she has uncontrollable epilepsy, microcephaly, hypotonia, and dystonia. She’s also fully tube fed, non-verbal and non-mobile. She has sleep apnoea and is going to be put to sleep so they can investigate. It could be floppy muscles in her throat or something wrong with her voice box which could possibly need a small operation. If none of these she will probably need a tracheostomy. Lillie has been through so much and is still so happy and smiling.