Infantile Spasms (aka "The Monster)

When Ryan hit his 9 month growth spurt he seemed to be having a hard time with his new size...not that he was a lot bigger but I thought maybe since he's a little extra sensitive to everything he's just really feeling this latest spurt. I couldn't have been more wrong and to this very day and for a long time to come I will be kicking myself very very hard for not listening to my Mommy gut instinct...I am an idiot.

In early July, 2011, Ryan began collapsing forward. It was mostly his head. It would just fall and his chin would hit his chest. Maybe at the time he was having funny little jerks too but I probably never really thought much about it and chalked it up to funny little baby movements. Again, I couldn't have been more wrong. At a routine check up with his pediatrician he did the head bob thing. Right at that moment I was trying to explain to the doctor what was happening. When he saw what Ryan did he said, "I don't want to alarm you and do NOT go and Google this" (he knows me so well) "but it looks like it might be something called Infantile Spasms". Oh, ok I was thinking, that sounds kind of cute and harmless. This appointment was on a Friday at 11am. I stayed strong with avoiding the dreaded internet for almost 48 hours but as always my curiosity got the better of me and I had to check it out. What I read sent waves of nausea firing through me...worse probably than when we were told about Ryan's vision. I was numb, literally frozen in fear and didn't know what to do. I think either I called my sister or my sister had called me not long after I read what I had read and I just balled and balled. I remember telling her "don't tell Mom and Dad, let's just wait and see what I can find out". I didn't want my parents to be sent into the sickening spiral I had just entered. It was the weekend so I left very long, panicked, tear filled messages for the pediatrician and the neurologist. By Monday afternoon we were on our way to the children's hospital for an EEG and an appointment with the neurologist. Ryan was hooked up to this hideous machine with about 25 electrodes stuck to his fuzzy little head with gauze and tape all around to keep things secure. I then held him and he slept in a darkened room...just me, my baby and a wonderfully sweet technician who kept me talking the whole time while I watched my little guys brain waves blipping away on the monitor in front of me. When the test was done, the electrodes gently pulled away from his scalp and the glue washed away we headed down to the neurology department. The test showed Ryan had hypsarrhythmia.

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Definition: Hypsarrhythmia is an abnormal interictal pattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on electroencephalogram (EEG), frequently encountered in an infant diagnosed with infantile spasms, although it can be found in other conditions. In simpler terms, it is a very chaotic and disorganized brain electrical activity with no recognizable pattern, whereas a normal EEG shows clear separation between each signal and visible pattern.

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Basically hypsarrhythmia prevents the brain from being able to function at all. It is in a constant state of "fireworks" that go off every 1 - 3 seconds. It wasn't looking good. The neurologist asked us to video tape Ryan's head drop episodes and his spasm clusters and to e-mail everything to him.

The next day was August 23, 2011...we got the call confirming Ryan had Infantile Spasms.

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Definition: Infantile Spasms (West Syndrome) is an uncommon to rare epileptic disorder in infants. Compared with other forms of epilepsy, West syndrome is difficult to treat. To raise the chance of successful treatment and keep down the risk of longer-lasting effects, it is very important that the condition is diagnosed as early as possible and that treatment begins straight away. However, there is no guarantee that therapy will work even in this case. Insufficient research has yet been carried out into whether the form of treatment has an effect upon the long-term prognosis. Based on what is known today, the prognosis depends mainly on the cause of the attacks and the length of time that hypsarrhythmia lasts. In general it can be said that the prognosis is worse when the patient does not react as well to therapy and the epileptic over-activity in the brain continues. Treatment differs in each individual case and depends on the cause of the West syndrome (etiological classification) and the state of brain development at the time of the damage. The prognosis for children with idiopathic (no known cause) West syndrome are mostly more positive than for those with the cryptogenic or symptomatic forms. Idiopathic cases are less likely to show signs of developmental problems before the attacks begin, the attacks can often be treated more easily and effectively and there is a lower relapse rate.

In other cases, however, treatment of West syndrome is relatively difficult and the results of therapy often dissatisfying; for children with symptomatic and cryptogenic West syndrome, the prognosis is generally not positive, especially when they prove resistant to therapy.

Statistically, 5 out of every 100 children with West syndrome do not survive beyond five years of age, in some cases due to the cause of the syndrome, in others for reasons related to their medication. Only less than half of all children can become entirely free from attacks with the help of medication. Statistics show that treatment produces a satisfactory result in around three out of ten cases, with only one in every 25 children's cognitive and motoric development developing more or less normally.

A large proportion (up to 90%) of children suffer severe physical and cognitive impairments, even when treatment for the attacks is successful. This is not usually because of the epileptic fits, but rather because of the causes behind them (cerebral anomalies or their location or degree of severity). Severe, frequent attacks can (further) damage the brain.

Permanent damage often associated with West syndrome in the literature include cognitive disabilities, learning difficulties and behavioural problems, cerebral palsy (up to 5 out of 10 children), psychological disorders and often autism (in around 3 out of 10 children). Once more, the etiology of each individual case of West syndrome must be considered when debating cause and effect.

As many as 6 out of 10 children with West syndrome suffer from epilepsy later in life. Sometimes West syndrome turns into a focal or other generalised epilepsy. Around half of all children develop Lennox-Gastaut syndrome.

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Due to the fact that Ryan already has brain abnormalities his "IS" is considered symptomatic. We were fortunate in that Vigabatrin (1 of 2 IS drugs) decreased his spasms within days. After 1 week of treatment his spasms has stopped. 2 weeks after treatment his EEG came back clear of the hypsarrhythmia but he still has epileptic activity at the back of his brain on both the left and right side putting him at risk for future seizures. This also increases his risk of Lennox-Gastaut Syndrome which I really don't want to get into right now.

Vigabatrin has been a wonder drug for Ryan. The unfortunate and ironic thing about that drug is that it has a serious side effect of causing vision loss. Ryan, therefore has to go to Sick Kids regularly (every 3-4 months) for an ERG to test his retina's. If the results show retinal toxicity he will have to be weaned from the drug. However, I have already won one fight with the neurologist to keep him on the drug and will probably fight again to keep him on it if his retina's are being damaged. We obviously choose saving his brain over his eyes.

So as things stand now (January 2012) we don't know and will not know for sometime what Ryan's outcome will be. His neurologist has told us that Ryan will not be "normal" as he grows up. I accept that now but it is still heartbreaking, maddening, frustrating and just about every awful feeling you could think and feel all summed up into one big ball of stress. We are holding onto the hope and positive thoughts as we watch Ryan slowly progress. If that should stop and he begins to regress...well we'll cross that bridge if we should happen to end up there.