Sorry for my late reply, my name is Kelly and we live in the North of England. Our beautiful daughter Isla is 7months old and shes was diagnosed with SGS on the 25th June (the worse day of my life).
When i first found out about this syndrome I was never off the computer trying to get as much information as possible, i contacted Albert Schinzel and other professors and geneticist world wide to get answers and for someone to tell me that she may have been miss diagnosed. Talking to other families really helps me as know body can understand what your going through. We have a close family which helps me alot as my husband works abroad, i packed in work to stay at home with Isla and like Ray said we get help from the goverment. To be honest the only help i need is emotional support from friends and family as Isla is a good baby and doesn’t need much aid. We have a nurse which visits everyweek, a physiotherapist and we take Isla to a development centre for babies with learning difficulties, do you have any support?
Isla was fed via nasal tube when she was first born but after 2weeks she started to take a bottle, we then found out that she had lost her hearing in her right ear but moderate loss in her left, she has a small hole in her heart which hasn’t got any bigger, she has kidney reflux and hydronephrosis, broad ribs, her forearm is fused together, we’ve had her eyes tested and were told that her sight is fine, she has infentile spasms and the only time she was in hospital was when she had a cold. Due to her flat nasal bridge it gets blocked and this stopped her from feeding. She has never had a kidney infection or chest infection which are really common with this syndrome.
Islas feeds are up and down, somedays she will eat like a horse and others she will only have really small amounts which really worries me but her weight is spot on for her age. We had to add thickner to her feeds as she was choking allot with her bottles, does Chieltje choke? Where do you live? Isla is our first baby too, we were told by our geneticist that it will be a1/4 chance of SGS happening again although we have now been told that they think it could be a mutation in either an egg or sperm like you said in your message earlier.
Isla loves her baths and we get lots of smiles off her when shes bathing…xxxx Her eyes tend to roll alot and she can’t focus for long but i know that she knows me and our family. She loves her cuddles and been rocked to sleep, if shes not tired then i’m up all night with her or she sleeps with us and she loves been cuddled,we don’t know how long we have with Isla but i was told that the average life expectancy is two years, this breaks my heart and i feel for you and your family. Isla is our special little girl and just looking at her little face makes me smile so i’m concentrating on taking each day as it comes and to cherish every moment… Please feel free to contact me any time.
Love Kelly x
To: firstname.lastname@example.org> From: email@example.com> Subject: [forum858] epileptic activity> Date: Sat, 8 Nov 2008 11:03:16 -0500> >