The verdict

September 04, 2010

The verdict

i've been a bit quiet this week, both here and elsewhere in general. Most of that was due to William's appointment at the specialist TS clinic on Wednesday which i was very nervous about. We had to go all day and there were various tests done - some to confirm the tuberous sclerosis diagnosis (which was 'definitely' confirmed) and some to find out more about his seizures and brain damage. The actual tests themselves weren't as traumatic as i feared they might be, and William was calm throughout, even managing to sleep through a great deal of them. The people doing the tests were really understanding and explained the procedures carefully to us, letting us get William settled, giving us time until we were ready, allowing me to stay with him through all the tests, and providing us with time and space to feed and change both twins when necessary.

The EEG test showed signs of electrical activity in William's brain consistent with seizurous activity. From looking at the different brainwave patterns and the video evidence we took with us, the neurologist we spoke to said that he does seem to be having epileptic seizures but because his brain is still developing it is too early to be able to diagnose the exact types of seizures he is having. Therefore he has been put on a general epilepsy med for the time being, starting off at a low dose and gradually increasing over the next 2 weeks to the correct dose for his weight. Hopefully this will help to control or lessen the seizures until he is a bit older when the EEG will be able to show the different types of seizures he is experiencing and then he can be given meds better suited to controlling these different types. (Phenobarbitol is the name of the medicine William is on at the moment).

The MRI scan showed numerous cortical tubers (areas of damaged brain) in every area of William's brain, with most of them in the frontal lobes and parietal regions. There may also be two subependymal nodules (benign growths in the ventricles of the brain which can calcify over time and turn into SEGAs which can cause a blockage and hydrocephalus and need emergency surgery), but he would need further scans to confirm these. We were told that due to the location of the tubers William is likely to have delays and/or continued difficulties in the following areas: visual and verbal memory, organising thoughts, planning, problem solving, attention, behaviour, emotions, understanding of speech and language, peripheral vision, coordination of limb movements, processing sensations. i was very sad that the tubers were so numerous and so widespread, but there's nothing we can do about it and we just have to make the most of the things William can learn to do.

So far William has been taking his meds from a small syringe with no problems and there has been a reduction in the number of seizures, though he still has the 'big' ones which interfere with his breathing. Finn now cries everytime William has one of these which is useful to alert us in the night if we haven't already woken up. We've also been put on a waiting list to receive a seizure alarm which fits under the mattress and detects movements associated with seizures, for when we are ready to move the twins into their own bedroom. That will help to give me peace of mind to sleep at night, knowing i will be alerted if William needs me.

Think that's all for now, still trying to process the results and the implications myself. Oh, and William's genetic results are not back yet so we don't know which chromosomes are involved in his particular case, which can affect the severity and prognosis to some extent, so we continue to wait and see. It has been confirmed though that neither me or Sir have the syndrome so we were told that any future babies we had would only have a 4% chance of having TS which is reassuring news, though William would have a 50% chance of having children with the syndrome if he gets to that stage.