Isabella was born on the 19th April 2010 at 12.54. She weighed in at a whopping 9lb 5oz, with the biggest blue eyes you have ever seen. To start with everything was fine, she smiled at 7 weeks, loved tummy time, laughed and there wasn’t a problem.
At four months she had rolled over but then after that did very little else and seemed to change. She tended to keep her hands fisted and had a habit of crossing her eyes. She was not close to sitting and wasn’t reaching out for objects, she also had a tendency to just use her right hand. I was very concerned and thought that her symptoms were similar to a child with Cerebral Palsy. Cerebral Palsy is an umbrella term for ‘Brain Damage’ and there are several different types of Cerebral Palsy. We went to the Doctors with our concerns. We had to really push for a referral from the GP to see a pediatrician. The Doctor we saw said she was fine, there was nothing wrong. Finally we got a referral when Isabella was six months old, but this was only to reassure us, he genuinely believed that Isabella was okay.
Isabella finally got to see a pediatrician when she was 11 months old! After checking her over and watching what Isabella could and couldn’t do, we were told she had a definite problem with her Central Nervous System and would need an MRI ( Magnetic Resonance Imaging) scan of her brain. Although she was 11 months old he placed her development at approximately 4 months old on the Griffiths Scale. We pushed him for a pre diagnosis and he like me thought it was Probable Cerebral Palsy, but he couldn’t say for sure, he would have to do more tests.
Isabella had her MRI Scan in July of last year. An MRI uses strong magnetic fields and radio waves to take pictures of the brain. That was a tough day for us. She was put under General anaesthetic, so she wasn’t allowed any food from 6 am on the day of her scan and it wasn’t until 1pm! We decided to wake her up early, so she could at least have her breakfast as normal. She was so good and she didn’t cry once, even though she had missed her snack and lunch. She let the nurse put the magic cream on her hands and bandage them up and throughout the whole time she was smiling. It was hard holding her whilst a team of Doctors and Nurses injected her, within seconds she was limp and I had to leave her. That was the first time I had left her, with strangers, in a strange place and it hurt like hell. The scan results came back normal some weeks later, this threw me; I was convinced that the MRI would show that there was damage to the brain, which would explain why she was so far behind with her developmental milestones.
Over the last year Isabella still hasn’t reached any new milestones. She has very high muscle tone, this means the muscles in her arms are tight. It makes getting dressed and general arm movements very difficult for Isabella. Added to this she has involuntary movements in her arms, again these interfere when Isabella is trying reach for objects. She also has a tendency to bite her left hand, when she is happy, sad, and excited and frustrated, so practically most of the time. This worries us, as it leaves red teeth marks on her thumb. She is unable to hold objects in her hands for longer than a couple of seconds, which means she cannot feed herself or play with her toys independently.
Isabella has variable tone in her legs which means sometimes they are tight at other times they are more relaxed. Isabella has a very, very weak trunk, which means she cannot sit unaided, she just flops backwards or forwards. Similarly when you are holding Isabella she has a tendency to through herself backwards and she feels a lot heavier, as she is not bearing any of her weight. She also has a wide base of gait in her legs which means shes sits in the buggy with her legs wide open. We practise exercises in her Physiotherapy sessions to encourage her legs to close together.
She cannot bear any weight on her feet. On occasion she may put her feet down, but they turn to the side and she curls her toes. She has special shoes and leg supports called gaiters. The gaiters look like shin pads. They are made of a long piece of material with metal struts inside and they are wrapped around her legs and fastened with velcro. She has to wear these wear these to keep her legs straight, along with her shoes when she goes in her standing frame. She is then strapped into the standing frame with several velcro straps around her feet, legs and bottom. The standing frame is to help her strengthen her muscles and encourage her to bear weight on her feet. She absolute hates it and has a meltdown and cries uncontrollably, so much so the Physio has said just to stand her in her shoes and gaiters. This sadly is no easier as Isabella tenses up and screams the minute she sees her shoes and hears the velcro on the gaiters. So by the time she is strapped up she is beside herself and totally inconsolable – This breaks our hearts. No parent wants to see their child in pain.
We have been referred to a Neurologist (Brain Specialist) who after assessing her in October last year said it wasn’t Cerebral Palsy, but wasn’t sure what it was. He reviewed her MRI with his colleagues and said it would be worth doing one again this July, to make sure nothing is missed, as the brain is still developing. He also requested a Lumbar puncture (where they took a sample of spinal fluid) and blood tests which Isabella had done in November, for which she was sedated. All of these tests have come back normal. She was also tested for Rett Syndrome ( a degenerative disorder ) thankfully that was also negative.
Back in February 2012 on the advice of the Neurologist we tried her on El Dopa ( a medicine given to patients with Parkinson’s) to see if it would help her with her high muscle tone and help her arms feel more loose and relaxed, sadly it didn’t. We weren’t shocked, as he said the chances of it working were very small, but he didn’t want to leave any stone unturned.
Isabella’s daily routine includes exercise. Every morning after breakfast Isabella has a physiotherapy session with me for an hour. These are exercises which I got given by her Physio. The exercises make sure that Isabella stays supple and that her muscles don’t cease, as she isn’t mobile. They also try to help Isabella understand her body, for example Isabella cannot touch her feet with her hands, or clap her hands, so help her do this through exercises. The Physio also comes to see Isabella every 3 weeks for a Physio session and to see how she is doing.
Isabella also has an Occupational Therapist, whose role is to advise on specialist equipment to assist with Isabella’s daily activities. She arranged for a specialist Chair (Bee Chair) for Isabella. It is on wheels for use around the house and can be highered or lowered dependant on the activity Isabella is undertaking. It ensures she is sitting in a supportive position, so she can concentrate on reaching and grabbing for her toys. It did take Isabella some time to adjust to it, but she will now sit in there quite content for at least half an hour, before she becomes frustrated and wants to come out. She has also just in the last month got a bath seat for Isabella, which means she can now sit in the bath and play rather than just lying flat, on several bath maths.
We now have a Speech and Language Therapist, who visits Isabella. Isabella doesn’t speak, although she has just started to say ‘Ma-ma’. Isabella will eye point, which means she will look at what she wants. She will also vocalise in different ways and generally we know what scream or shout means what. We have started to introduce a Big Mac Switch and have recorded the word ‘Mummy’ on the switch. I will leave the room and someone else will tell Isabella if she wants Mummy to come back she needs to hit the switch. To date it has been very successful and Isabella understands that when she hits the switch, Mummy comes back. This will be built on in the future by introducing more switches and more choices, such as food types or toys.
On the 19th March 2012 Isabella was a very brave little girl and gave more blood this time without going under anaesthetic or being sedated. She was a star and didn’t cry or wriggle. This blood was sent for chromosomal microarray analysis, and like all the other tests it came back normal also. She was also tested for Angelman’s Syndrome and CDLK5, both which came back normal as well.
In June 2012 Isabella had an EEG. An EEG (electroencephalogram)is a recording of brain activity. The brain’s cells produce tiny electrical signals when they send messages to each other. During the EEG test, small electrodes which were placed on Isabella’s scalp. They picked up her brain’s electrical signals and sent them to a machine called an electroencephalograph, which recorded the signals as wavy lines on to a computer screen or paper.
In July 2012 Isabella went for a second MRI scan and like the first it picked up no abnormalities. This left her Neurologist baffled, Isabella had obvious developmental delay and difficulties all the tests she was having came back normal, so there was no way to identify the cause of her difficulties.
Unable to suggest anything else, as a last resort her Neurologist referred us to Great Ormond Street, where we saw another Neurologist. He suggested that his colleague there may have come across cases like Isabella and would perhaps be able to shed more light on her condition. He told her us not to get our hopes up, so you can imagine our surprise when we were given a diagnosis of Polymicrogyria, a rare brain malformation.
Despite all of her difficulties, Isabella is a happy, relaxed and delightful little girl whom we adore. She is very determined and a little fighter. To date that is where we are up to now, please continue to read the new posts about Isabella, her progress and our family’s journey into the unknown….