Hi all of you amazing people I am Lilly Mae's mum, we have received her quilt last week and it's just amazing. I'm blown away at the time and love and effort and skill that has been put into her quilt, it's amazing, thank you. She loves it so much and will defo be using every night and also taking it with her in hospital and in Bluebell Wood thank you xx
After several worrying tests during the pregnancy, we were shocked when after delivery the placenta as it was tiny & black they said Lilly Mae had not been receiving nutrition for weeks. Lilly Mae was was so sleepy and couldn't hold her body temperature very well they put her in an incubator for 5hrs, after this they said she was well enough to go to the ward.
At this point I was on cloud 9 but had a niggling feeling that something didn't feel right and I thought she looked different, her eyes just didn't look like ours and her face looked a little different to ours but I was so happy we'd finally got our daughter, a boy and a girl now, we were complete. All was well until later that evening when during visiting she had problems breathing and was whisked to the special care unit, from that moment on life has changed!
The following day we were called into a private room by a consultant, a nurse & a counsellor, I was thinking oh my, they think like me that something is wrong, I was so scared but they were talking about her breathing and feeding probs and her being tiny but no mention of her appearance or anything so I started to relax, BUT then they said 'have you noticed Lilly doesn't look like you both?' It was then my world felt like it was crashing in, they thought what I thought, how can that be a coincidence? I couldn't breathe, I think I felt my heart break literally. I was so scared what this all meant, they then pointed out lots of things about Lilly they said weren't normal, or that were different and they said as far as they were concerned she had a genetic illness, they just didn't know what. Their thoughts at first were Down's Syndrome, mainly because Lilly has dysmorphic features, upward slanting eyes, epicanthic folds & low set ears & she was very sleepy, she didn't wake until 10 days after birth, she couldn't feed, also her mouth & tongue are larger than other peoples. Those tests were negative so more were done.
As we are now, she has global development delay, weak muscles especially in her left side & legs, hypotonia, visually impairment, hyperteiorism, is hypermobile & has possible neurological problems, low immune system, low muscle tone, pseudostrabismus, cold hands/feet but despite all this she is so content and so happy.
Sept 2008 we finally have a diagnosis - Lilly has 17q21.31 microdeltion syndrome, this accounts for most of her problems and difficulties but it's a very rare condition and at the moment not a lot is known about it so we now have even more unknowns and questions, but at least we have some answers.