wolfhirschhorn.org

I’m not sure if I’m writting this in the right place but hey ho. I’d like y to introduce my daughter Ava, she was born on 27th January 2012 weighing 4lb 2oz. (we live in the UK) Anyway here’s our story…

We found out she had whs when I was 30 weeks pregnant.. It all started when I was 28 weeks and  my midwife noticed I was measuring 4 weeks smaller than I should of . I was sent to have a ultra sound and it was confirmed she was measuring 4 weeks behind, we were sent to wait in a room for a doctor to come see us. The doctor finally came in, suddenly we were being told that it was most likely the placenta wasn’t working properly and that the plan was to get the baby out in the next week. She informed me that I’d be staying in hospital until the baby was delivered and that the baby would weigh just over 1lb. I burst into tears and couldn’t get my head around what was happening.

Anyway to cut a long story short I was admitted for monitoring and (thank goodness) another doctor who specializes in complicate pregnancies took over mY case. She decided it would be wise to do further tests and Immediatly suggested it could be something genetic like Edwards syndrome. she gave me another ultra sound and thought she could see an abnormality with the heart which she indicated is often associate with syndromes. We were sent to see a heart specialist who then said her heart looked perfect. We were elated thinking she’s probably just going to be small but we agreed to have an amniotisist done anyway. We were told the doctor would phone us with the resultsI within the next few days. I can not even describe how agonising the wait was… the call came. They had detected a deletion if the 4p chromosome and it was called wolfhirschhorn and we were told to go look it up on google (yes really). I remember thinking  wolf what??? The name itself is hidious!

Anyway we made the mistake of first looking on the Wikipedia website (biggest mistake of my life) I literally took one look at the long list of doom and gloom symptoms and the dated emotionless pictures and couldn’t look anymore. This couldn’t be happening to me, there’s noway I can cope with a ‘disabled’ child, that’s all I could think.. I didn’t look at another website until Ava was about 2 months old, when my sister persuaded me to look at this.. Best decision I made!! (I think iv read all of your stories and iv been meaning to post mine for ages)

I was induced at 37 weeks and my sweet Ava was born healthy and with no issues, apart from needing a little help with feeding. At the time, although I’d known what to expect i still felt my life had ended and  I couldn’t quite fathom how I could ever be happy again. However my husband was so strong for me and I had lots of help and support from my mum and dad looking after our 16 month old son Bobby while Ava was in NICU. The time came to take her home after 2 weeks, half tube half bottle fed. I felt completely not ready, incapable and an emotional wreck. I practically cried myself to sleep for weeks…

One year on… Ava is such a delight, yes it’s been the hardest year of our lives adjusting to the fact our lives will never be the same again and probably almost always full of appoinments. Yes it’s been frustrating when she suddenly gets an aversion to her bottle and wont take her milk or pukes up too many times (i could go on) but I feel so blessed she’s got no health problems. AND to have her in our family and see her steal the hearts of so many people is precious.

The now.. Ava weighs in at a whopping 18lb 7 and takes three puréed meals a day along with 500mls ish of high calorie milk. She is so close to rolling from her back to her front (and has been for months) but she just can’t seem to get that arm out of the way! Shes working on her sitting and can hold herself pretty well with assistance. She had her first seizure at 7 months that last 40 mins before it was stopped with diazapan. She had a further 3 over the  next 3 months but was then put on medication (sodium valporate) which, fingers crossed, has done the trick and shes been seizure free for 2 months. She can be vocal when she feels like it but at the moment it’s still just baby coos. She was diagnosed with cerable vision impairment (CVI) a few months ago so her sight is compromised to a degree (to what degree we don’t know yet) but she focuses on objects and follows them when she’s in the mood. (has anyone else had experience with cvI??)

She will bat and feel objects infront of her but hasn’t got the hang of grasping toys for more than a few seconds yet.  She smiles and had given us a few laughs, which are priceless! To sum her up she is just a very happy, content little love.

Im so glad that I found this site,  iv really enjoyed and found so much hope from all you stories and posts.. Thank you! I’m guna try post some pics, hopfully it will work!