gummy grin

Hallie is 19 weeks old on Tuesday 25th September.  She is a very smiley little girl.  I can't help thinking every time she beams up at me from her moses basket that her pleasant nature and sociable personality will help her considerably when she is old enough to be aware of her port wine stain.  I can see already that Hallie, as well as being very sociable and quick to throw me a gummy grin, is very alert and aware of her surroundings.  She looks at everything around her with interest and focuses on people's faces and her toys, she hits her toys and tries to grab hold of them too - this reassures me that she doesn't appear to have any obvious developmental delays.  I constantly watch her and analyse her every move as we are still not certain that she does not have Sturge Weber Syndrome.

When I researched port wine stains and Sturge Weber Syndrome in my hospital bed shortly after having Hallie, I came across a mountain of information, most of which scared the hell out of me, on the symptoms a baby can have when they are born with a port wine stain.  Seizures and Glaucoma were the two that stuck in my mind and "mental retardation" which I think affected me the most as I worried immediately what type of future my 4 day old baby daughter would have and how my relationship with my only daughter would manifest itself if she was severely mentally disabled.  I readily admit I have never experienced a relationship with a severely disabled child and it was all i could think about.  I had already thought in the first week of Hallie's life that I would home school her if she got bullied and I would do anything to protect her from harmful words and stares.  It took me a long while for this emotion to mellow and for me to start enjoying Hallie and forget about the possible problems she may have in the future.

Hallie was referred to the dermatologist and seen aged 7 days old.  The dermatologist and his colleagues looked very interested in Hallie's appearance and as she lay on the hospital bed naked with them all staring at her port wine stains I felt sick as I realised the seriousness of Hallie's condition and that it must be bad because they seemed so shocked and quiet.  The dermatologist subsequently referred Hallie onto the ophthalmologist for her eyes testing, the laser therapist in Leeds to discuss laser therapy (at my request) and the neurologist.  She has been seen by the "eye doctor" at 4 weeks old and her eyes are okay for now but she needs to be seen every 3 months (due again in October).

Hallie was seen by the neurologist aged 6 to 8 weeks old.  This appointment disturbed me somewhat as nothing really came of it.  I was told that there was not really much point in Hallie having an MRI scan to check for stains on the brain as even if we did find she had stains on the brain there wasn't anything we could do to cure her!  The consultant told me that mental disability and seizures usually came hand in hand and as it looked as though Hallie didn't have any mental development complications and she had not had a seizure aged 8 weeks old, she most probably wouldn't have any seizures at all.  At the time I didn't think much to this opinion but after thinking about it when I got home and being given opinions from other parents who had been through the diagnosis process of SWS with their babies, I changed my mind and requested that Hallie have an MRI scan under general anaesthetic.  I also requested that Hallie be referred to the Sturge Weber Clinic at Great Ormond Street Hospital in London - it is the only specialist clinic of its kind and I know that once Hallie has been seen in this clinic I will feel a bit more settled and confident about her health.  I found when chatting to the SWS foundation facebook group that the information we were provided with at the neurologist appointment was not accurate at all and children with SWS can have their first seizure any time in the first two years of their life and that the mental development is not always present with the seizures at all!!

It worries me that the medical profession, or majority of it, know nothing about SWS and it worries me even more that we do not know what is going on in our daughter's body, what the future holds for her and what we need to do to care for her.