i figured i should write a post to help new readers to this blog catch up with where William's at, without having to trawl through all the previous posts. So this post will be a permanent link in the sidebar and updated regularly to keep everyone informed of William's progress. i'm going to start from the beginning, so apologies if you already know all this:
We found out at the beginning of February 2010 that i was expecting twins. At the 12 week scan everything seemed fine, and we were told that our babies were 'dichorionic-diamniotic' twins which is the least risky type. But an ultrasound scan at the end of April showed possible abnormalities with William's heart and a follow-up scan a month later confirmed that he had multiple cardiac rhabdomyomas (benign heart tumours), so we were sent for further tests at a specialist hospital at the beginning of June. Those tests showed that William also had multiple cortical tubers (malformed areas of brain) in addition to the multiple cardiac rhabdomyomas which gave him a diagnosis of Tuberous Sclerosis. We were offered a late abortion of William as the prognosis was so severe, but decided against that option and continued with the twin pregnancy.
Both boys were born naturally on 15th August 2010 after a 10 1/2 hour labour - William arrived first weighing 6lbs 5oz followed by Finn weighing 5lbs 14oz. Tests on the placentas showed that they are non-identical. Both boys were fine and allowed home with me the next day. Initially William seemed fine, except for some problems with latching on and co-ordinating his suck/swallow pattern when breastfeeding and difficulties in settling to sleep unless tightly swaddled. But when he was 4 days old i noticed some strange jerking episodes from William which i thought might be seizures, and then the following night he had two more episodes which made him turn blue. We rushed him to hospital but the seizures had stopped by the time we got there and they discharged him after a thorough check-up.
We took William to his hospital appointment with the TS specialist at the beginning of September 2010, during which an MRI scan showed that he had over 50 cortical tubers plus 2 subependymal nodules in his brain (benign tumours in the ventricles) and an EEG showed electrical brain activity consistent with seizures. He was put onto a general epilepsy drug (phenobarbitol), which seemed to work in reducing his seizures for a while. Then at the end of November 2010 William was hospitalised for 5 days after some really nasty seizures which required the doctors to give him diazepam to bring him out of. He was put on a feeding tube and kept sedated while they ran lots of tests, the results of which were that he was diagnosed with complex epilepsy with many focal points in the brain (so not a candidate for surgery), clinical and subclinical seizures of different types (focal, tonic, clonic, myoclonic), including Infantile Spasms which have a devastating effect on development unless they can be stopped. He was put onto another drug (keppra) and we were sent home with supplies of diazepam for emergencies and ACTHar to inject into him daily to try to stop the IS.
The ACTH injections carry many side-effects so William had to be monitored closely for the 3 weeks he was on them, and he got very sleepy, cranky, irritable, hungry and fat during that time as they are powerful steroids. He also had to be kept indoors away from other people as the injections lowered his immune system to a dangerous level. But they were successful in stopping the Infantile Spasms and since then William has been weaned off the phenobarbitol and onto a different drug (topomax) which seems to be doing a reasonable job of keeping his seizures to a minimum, and since then another drug has been added (tegretol). Despite that he still has numerous seizures daily, but not of the length and severity that he once did, and we now have a special alarm which fits under his cot mattress to warn us of seizures when we are out of the room or during the night. William's seizures seem to get worse when he is unwell, such as if he has a cold, is teething, or has an ear infection, but he does not react to pain so it is difficult to tell when he is starting to become unwell. William has been hospitalised a couple of times since when his seizures get bad, but at the moment they are manageable most days.
William has also been diagnosed with a cortical visual impairment (which means his brain doesn't process input from his eyes properly) and sensory processing/integration difficulties affecting his senses of touch, hearing, vestibular and proprioception. At the age of 2 months he was enrolled with an early intervention clinic, through which he receives a weekly group therapy session, a weekly hydrotherapy session, a weekly speech therapy session, a weekly physiotherapy session, plus input and equipment from a physiotherapist, visual impairment specialist, speech therapist and occupational therapist (we currently have a light box, body brush, physio wedge, roll, ball and stool, and use a special reclining highchair, a special bath chair, a supportive insert for his pushchair and a baby sling with him). i also take William to a baby sensory club, stories and songs session at the library, baby yoga club (now stopped) and an ostepathy session every week. We made the decision to remortgage our house to get extra money for William's needs, some of which we used to build a sensory room in our loft. i carry out daily therapy with William in this room consisting of physio work, body brushing, sensory integration work, speech therapy work, visual therapy, massage and aromatherapy; and a small group of other mums bring their special needs babies round once a week for an informal group therapy session.
Because of his sensory difficulties William can be very resistant to certain sensory experiences which most babies tolerate without any problems. Examples include: having anything on or touching his head (including having clothes pulled over his head), having his nails cut (fingers and toes), having any clothes on his feet (socks, booties, any baby clothes with 'feet'), putting anything in his mouth (fingers, hands, toys, and most foods - to get him to eat anything it has to be one food type only, mixed with plenty of milk, of a smooth non-lumpy consistency without being too 'slimy', and of the preferred temperature), being on his tummy for too long, wearing the 'wrong' clothes (he has definite likes and dislikes with clothes even though i try to get the softest ones possible and pre-wash them for him), the feel of cotton wool or similar fuzzy textures on any part of his body, touching or holding most things in his hands (he only has a few specific textures which he will tolerate without problems and will close his hands tightly to avoid all other textures), certain sounds (such as sirens, some phone ringtones, alarm clocks, the microwave beeping, reversing noises on vehicles, car horns, dogs howling and also some songs or pieces of music which are too high-pitched or have a heavy bass beat), the lighting in some shops and supermarkets, lights flickering, waking up, being put down in his cot unless he is already asleep, etc. etc. But we are working on all these areas with him and will continue to do so.
William has begun to show some of the early signs of autism, such as not giving eye-contact, not responding to his name being called, showing no interest in social interactions with people, not understanding or using pointing or other gestures, not copying facial expressions such as smiles, not understanding or participating in 'turn-taking' games, not babbling or using vocalisations beyond crying, plus he has started to engage in 'self-stimulatory' behaviours such as arching his back, rocking his torso back and forth when held, shaking his head from side to side while staring into space, flapping his hands and staring at his fingers for long periods of time. We haven't taken him to be checked out for autism yet because his other developmental problems could be causing some of these symptoms, but it's something we are aware of and will keep an eye on (there is a strong correlation between TS and autism).
So far William has made slow but steady progress and can now:
- make a happy noise, a protest 'squawk' and giggle
- lift his head and shoulders up when on his tummy for up to 30 seconds
- maintain reasonable control of his head and neck when not tired
- keep his head up for brief periods of time when supported to sit (shoulders held back)
- maintain a sitting position when 'propped up' by cushions etc.
- respond positively to some textures by rubbing his cheek, hand or arm across them
- look at and focus on brightly coloured objects or lights, or when using the light-box
- track light-up toys in a darkened environment
- look at his reflection in a mirror
- look at an increasing range of objects and pictures in normal lighting
- show anticipation and preferences during familiar routines and experiences
- show some awareness of cause and effect to operate simple toys
- open his hands and try to splash with his fingers when in water
- bang on objects with a flat hand
- press down on a large switch pad with a flat hand when it is placed there
- reach out and touch someone with a flat hand to ask for 'more'
- show recognition of people familiar to him
- turn towards people when smiling at something they are doing
- accept small amounts of cereal mixed with milk from a spoon
- eat rusks, bananas and apples mixed together, cheesecake topping, sponge cake, custard, yoghurt with no bits or well-mashed potatoes blended with milk
- drink from an open cup with support
We are currently working on these areas:
- opening up his hands in a more generalised way
- batting at objects
- reaching out for and grasping objects
- releasing objects put into his hands
- looking at people's faces and making eye contact
- turning his head to look at objects or people
- babbling and a greater range of vocalisations
- purposeful play with toys
- accepting things touching his head or being on his feet
- responding to his name
- turning towards sounds
- rolling over
- pushing through his legs when held upright
- sitting independently
- bringing things to his mouth and mouthing his fingers
- kicking with his legs
- exploring his hands and feet
- eating a wider variety of foods
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