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Lilly Mae's Story In Feb 06 Our prayers were answered when we found out we were finally expectin a 2nd child, we were over the moon. Early on though I felt something wasn't right, but people said I was probably just extra nervous as this pregnancy was so longed for. I tried to relax & was feelin great until I got my triple test results, I had very high afp levels which point to either spina bifida or downs syndrome. I was so scared & upset I was offered counselling for an abortion or amnio testing, I refused as I wouldn't be havin either, so they ordered a indepth ultrasound scan. After 1hr & me havin to lay in all sorts of positions so they could view our baby at every angle they said they thought everything was fine, even though our baby had hardly moved for them & didn't move the lower half of her body at all. This wasn't a surprise to me though as my baby hardly moved at all. I told numerous medical people this who all said it was ok, I didn't think so, as when I was pregnant with our son he moved lots this felt so different but I was told not to worry. I always measured small for my dates but was told not to worry, I then developed a hernia which made getting around uncomfortable. 3 wks before our baby was born my waters broke very slowly, I went to the antenatal clinic they confirmed my waters had broken & said if I hadn't delivered within a wk I'd be induced, I was so excited our baby was comin!! We tried everything to get the baby here, as you do, but Sunday morning I had to be induced, so I went to hospital where they gave me the 1st lot of prostin, I was shocked to find they do no more for 7hrs so we just chilled at the hospital makin the most of the silence before our baby arrived. 7hrs later they gave me a 2nd lot, 2hrs later I started having small pains & when they got stronger I asked for pain relief, I was told it wasn't labour only prostin pains & to try & sleep, not easy as I knew I was in labour so they gave me a morphine shot & told me to sleep. 45mins later I felt things were happening fast so I got my husband to get a midwife who patronisingly asked what was wrong, she looked down there only to see our baby's head, so from that moment it was all a little panicy - 40mins later I pushed our angel Lilly into the world. I asked if Lilly could be placed straight onto my tummy as I wanted skin to skin contact straight away but was told she had a very short chord so they couldn't until the chord had been cut. Then they commented on how sleepy, weak & tiny she was, we were very shocked when they weighed her as she was even tinier than we thought only 4lb 14oz which was shocking, as she was only just over 2 wks early. We were even more shocked when I delivered the placenta as it was tiny & black they said she had not been receiving nutrition for wks & no one had noticed and the chord was ony 6-8 inches long. As she was so sleepy & 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 & I thought she looked different, her eyes just didn't look like ours & her face looked a little different to ours but I was so happy we'd finally got our daughter, a boy & a girl now, we were complete. All was well until later that evening when during visiting she had problems breathing & was whisked to the special care unit, from that moment on life has changed! Later I asked James if he thought Lilly looked different & he was shocked & I think upset with me for saying it, he never really answered me. 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 & feeding probs & 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 wern't normal, or that were different & they said as far as they were concerned she had a genetic illness, they just didn't know what. Their thoughts at first were Downs 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 & 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. |
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