EDDIE
“Eddie’s favourite things are bouncing in his chair, being naked and being in the bath – he makes lovely happy sounds and smiles the most at these times. He has also recently discovered food and loves it!”
Eddie (Edward) is almost 8 months old. He is a beautiful baby and, until recently, he had become a happy baby.
A large porencephalic cyst was found on the left side of Eddie’s brain in utero at 35 weeks gestation. The initial diagnosis was porencephaly, a rare neurological disorder which can cause a wide range of neurological problems, from minor to severe. As the months have passed Eddie has been diagnosed with Cortical Vision Impairment, Right Hemiplegia and most recently Infantile Spasms (also known as West Syndrome). He also has silent reflux and a Cows’ milk protein allergy, both of these are fairly common in babies, but for Eddie we now think they are what caused him to be an unsettled and unhappy baby in the early months.
We spoke to Eddie’s parents about their experience of his rare disease.
“Eddie was very unsettled from about 2 months old until around 5 months - he was often inconsolable for hours at a time at home. We worried that it was ‘something’ to do with the neurological damage caused and actually it seems to have been so much more simple then that. Changing our diet to come dairy free, and starting to wean him onto solids changed everything. We enjoyed two months of Eddie being so much happier, and developing well, but the start of the infant spasms changed everything. Until this I’d say that so far his condition has not really affected him as a baby because he is loved, fed, safe, everything a ‘tiny’ baby needs. Although he is not a ‘tiny baby’ anymore, at nearly 8 months his developmental delay and lack of working vision means he is not really engaging with the world around him but I don’t think he is affected by it at this point”.
“At each appointment where something new is diagnosed we feel scared, and crushed. But we go home and Eddie sustains us. ”
“We get a new referral (Sensory Team, Physio etc), I join a new online forum, buy a book, and try to learn. And we build ourselves up again and feel happy, and tell ourselves that he will be fine. And then something changes, and so it goes, up and down. It’s all quite raw at the moment as the seizures only started two weeks ago today. And with West Syndrome it is important to stop the seizures as quickly as possible but the first line of treatment has not worked. And so from Thursday he will be put on high dose steroids which is upsetting because he will likely be very unhappy, but mostly because he will become immunosuppressed which causes similar effects to chemotherapy. The hardest part for us both is living with the not knowing, with the up and down, we go from believing he will be fine to worrying he will never walk or talk, often in the same moment. The easiest part is Eddie, because having him here and holding him make everything feel better”.
“We chose to take part in the Rare Project because Eddie looks so well, even close friends have trouble understanding that things are likely to be hard for Eddie. Until the infantile spasms are under control he won’t develop, and indeed he has regressed a little bit. Likewise, although his teacher for the visually impaired feels he has good potential to learn how to see, the spasms are hindering that currently. We still hope that he will go on to thrive and do well, but it is important to us as a family that people understand that ‘hidden’ neurological conditions can have far reaching impacts”.
“The affects it has on us are more complicated. It took us a long time to fall pregnant with Eddie and we were over the moon. My pregnancy was wonderful until 34 weeks when I was diagnosed as having polyhydramnios, but I’d had that with my older son so was not too concerned. However, at a resulting growth scan the cyst was found. I still can’t really bear to think about those first few hours, days or weeks really, we were just so sad and scared. No one could tell us what Eddie’s overall prognosis would be, we just had to wait and see.
“He was born by c-section and was utterly perfect. ”
“He did everything he was supposed to do, he cried, he fed, he slept and had a poo! And so we were told to bring him home and just enjoy him, and that he’d have an MRI in 3 months time. I’ll admit as well as being wonderful those early months were hard, I’d nuzzle his beautiful head and wonder what had gone on in there. And I felt guilty too. Although we don’t know what caused Eddie’s cerebral infarction I feel responsible, I didn’t keep him safe in there. As the MRI neared we got very anxious, and sadly the MRI showed more damage than we’d seen on the MRI in utero, so that was a huge blow. And it’s been that way ever since, an emotional rollercoaster”.
FIND OUT MORE
West Syndrome
West syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication.
To learn more about Wests Syndrome, click here.
Source: https://rarediseases.org/rare-diseases/west-syndrome/
Porencephaly
Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition.
To learn more about Porencephaly, click here.
Source: https://rarediseases.info.nih.gov/diseases/7430/porencephaly
HemiHelp
The charity ‘Contact’ has continued the work of the UK charity HemiHelp which was a charity providing support and information to people with hemiplegia and their families in the UK. To learn more about Hemiplegia and how Contact can help support you with your ongoing or recent diagnosis, click here.
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