As some of you may know our middle daughter Emma has a rare genetic condition called Prader Willi Syndrome, and tonight’s post is dedicated to her…
When Emma was born, at 3.30am weighing 5lb 14oz i was as happy as any mother could be but it soon became clear that there was a problem. She didn’t feed the whole time we where at the hospital and she was really limp. i mean babies are, obviously, but differently floppy if that makes sense. But at 23 and with a 2 1/2 yr old already i tried to put it out of my mind, the doctors ok’ed us to leave and i went home to my simple life. But she was increasing hard but easy work. She fed consistently every hour or so throughout the day, and slept the rest of the time, sure its fine during waking hours but at night it was a killer and even after being released from the midwife etc it wasn’t getting any easier so after endless upsetting trips to the health visitor and funny looks every time i said she was feeding this way yet her weight gain wasn’t supporting that we took her to the doctors to be checked over for the millionth time.
The doctors couldn’t find a reason for her behaviour so we where transfered to the hospital under specialist consultants, 9 pain staking months of screaming blood tests, sweat tests and any bloody tests they could find we where still at a dead end.
Finally we where transferred in Pendlebury children’s hospital for a second opinion and praise the lord after one more blood test they found a reason… prader-Willi syndrome. Like you are now i googled it, yes i cried too, then took stock and figured, shes beautiful and shes mine who cares what labels they stick on her she will always be special to me.
Then 2 years of physio therapy, occupational therapy, dietitians, specialists and equipment later and this is who she became..
here she is about 3, she was sitting, crawling, feeding herself but couldn’t stand for longer than a few seconds and wasn’t talking. It was a painful time, more for me than her, she cruised along without a care in the world, nothing fazed her and with each new mile stone a glimmer of hope that she wouldn’t be severely effected by her “label”.
Emma is now 4 and 3/4, shes walking but it causes her pain in her upper thighs, she gets tired so easily when playing, she has amazing social skills and laughs uncontrollably over the stupidest things! She loves books and dolls and has a huge love of fashion like mummy. Shoes are her fave and she has a massive soft spot on Mr tumble, she isn’t talking but tries very hard and has taught herself sign language and has made up her own too 🙂 she surprises me every day with what and how she learns and really enjoys nursery. She has the brightest eyes and has a big smile for everyone. She also loves cuddles and having her hair stroked, she could also spend half her life in the bath!!!
But there is another side to Emma that has been slowly rearing its head more and more and even though i want to say its an overwhelming urge to eat its not, its her constant repetition, obsessive compulsions, strict routine, aggression and general naughtiness.
Its getting to the point where i cant cope with it, for hours she will repeat the same signs and gestures over and over again, her constant yearning for the next part of her routine is so painful and if you dare say something along the lines of NO then all hell breaks loose. She will cry and scream uncontrollably and hits and kicks. Now i don’t know if this has anything to do with PWS or whether its something that she has picked up. Shes spoilt, especially by daddy, hes always over compensated for her. She cant do no wrong and for all the things he THINKS she wont be able to have or do he gives her now. Don’t get me wrong all the girls are spoilt daddy’s girls, (in a nice unbratty way!) and i do understand but shes such hard work! Can i break these habits for her, does she need to start seeing the specialist again for more support? Am i just doing to much and not spending enough time on her? I just feel like a ball of over worked under appreciated emotion right now i cant see the wood for the trees?? Are all 4 yo bossy gits? am i just blowing it all out of proportion because she has a “label”? would i treat her differently if she didn’t have this hanging over her?
Every child is indeed different, labeled or not and 9 times out of 10 shes an angel but at others she reduces me to uncontrollable tears, more for failure than anything else. I don’t care what she has or doesn’t have and i really appreciate how her nursery have accepted her and worked with her to make it accessible for her, i love how she has friends and they all make such a huge fuss of her i just wish we had more of that at home instead of the anger and frustration.
i can only imagine what its like for her in that little body wanting so badly to do what all the other kids do but even through all the tears and pain i wouldn’t change her for the world!
So this is for all the mums and dads and brothers and sister of very special people…