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.

Therapies and "Inch"stones

Having the conditions that Ryan has (low vision, low muscle tone, developmental delay) leads to having numerous doctors and therapists in our lives. He has an endocrinologist, an ophthalmologist, a neurologist, a regular GP and a pediatrician all who are seen fairly regularly. On his non-doctor and hospital visit days he has a physiotherapist, an occupational therapist, a speech therapist and a vision therapist (through the CNIB). When we don’t have therapy appointments he still has to work and that means Momma’s got some pretty strong arms these days. Handling Ryan (picking him up, holding him, moving him around, bathing him, doing his physio and basically teaching him how to play and be a baby etc…) are a wee bit tricky. He’s pretty much like a 24lb newborn a lot of the time due to his low muscle tone. He has however gained a lot of strength through therapy and it’s been so amazing working with him every day (except on the days that I make him cry with new or difficult exercises). Feeling his muscles “kick in” and figure things out honestly lifts me up so high that I can’t imagine any drug out there giving the same results. It truly is a rush!

In the special needs world the term "meeting milestones" becomes "making 'inch'stones". These little ones go at their own pace and do things their own way. I am not known for being a patient person but being a parent in general teaches you to be pretty patient. Being a special needs parents REALLY teaches you the meaning of the word! Ryan has taught me that I'm capable of a lot more than I ever thought I would be...patience being one of the big ones! He has a lot holding him back...I read somewhere that vision is 85% of a baby's development. When you wipe out the vision aspect you really have your work cut out for you and Ryan has been working is butt off to get his revenge for what was taken from him before he was even born. For example, not only can he not see where the ground is (to judge how and when to get his hands out to protect himself from falling)...but he doesn't have the upper body muscle tone to get his hands and arms out in time (or to hold him up for that matter). Neurologically he's even more held back as a lot of the time he just can't figure out how to make what part of his body do a specific task. He has been learning though and in a way I understand how "SN" (special needs) parents say that these kids truly are a blessing as you really cherish the little things in life so much more.

Here are some of the 'inch'stones Ryan has made through all the amazing and supportive therapists he has in his life.

March 8, 2011 (4.5 months old): Held his head up (on tummy time) for 3 seconds!!! Yes, I cried...haha!
March 10, 2011 (4.5 months old): Focused on sparkly tissue paper (first time ever)...it was INCREDIBLE!!!
March 20, 2011 (5 months old): Rolled onto his tummy!
April 12, 2011 (almost 6 months): Giggled a short tiny quiet little giggle! One of the most beautiful sounds I'd ever heard!
June 6, 2011 (7.5 months): Tracked an object for the first time! A "light box" (thank you CNIB)! I nearly died right there!
June 17, 2011 (8 months): Really and truly looked at me for the first time and followed me with his eyes. Words still can not describe what I felt!
July 31, 2011 (9.5 months): He found his toes - yeah Ryan!!!! Sooooo exciting!
September 21, 2011 (11 months): Rolled from his tummy to his back!!!
October 22, 2011 (1 year old): Began pushing and rocking on his arms with his knees tucked under him..WOW!
January 9, 2012 (almost 15 months): Sat unassisted for 4 seconds!!!

By the end of July I had hit a level of acceptance of Ryan's SOD diagnosis and was full steam ahead with positive thoughts. Seeing the work he puts in with his therapists and feeling it in him myself when I work with him .. I was feeling very encouraged for his future. Then...

The Diagnosis(s)

As we headed into the uncertainty of what this next month would bring we couldn't leave the month of January without having even more bad news. On the 31st, just 3 days after learning about Ryan's vision we had to have my sweet and beloved cat Finn put down. It truly was terrible timing but is there ever really a good time for something like that? A few days after that sad event we headed to the hospital with Ryan for his MRI. I won't say what hospital we went to just that it was a fairly unpleasant experience. It taught us that we will only ever take our kids (Ryan specifically) to a pediatric hospital! For his MRI, a dye contrast had been ordered so they needed to get him hooked up to an IV. We didn't know at the time that Ryan had "tricky" veins...boy did we learn quickly and the hard way. He was 'stuck' 6 times with no luck. 3 times in his hands and 3 in his poor little head. He screamed and screamed...it took 3 of us to hold his tiny little 3 month old body down while a nurse poked away at his uncooperative veins. He could take no more...the nurse called down to the MRI unit and told them that they were not going to torture this poor baby anymore and they'd just have to do the MRI without the contrast. They thankfully agreed. Ryan was then sedated and taken down for his test. I will never forget how tiny he looked on that big MRI table and how heartbreaking it was to watch his little body slowly disappear into the 'tube'. After what seemed like a lifetime the test was over and he was back out of the 'tube' and in my arms sleeping away. We all went home to wait for the call.

Later that evening as Quin, Jeff and I were sitting down at the dinner table the phone rang...it was time. The pediatrician gave us the news we didn't want to hear. Ryan had Septo Optic Dysplasia.

I should back up a bit here. When we met with the neurologist a few weeks before, Jeff looked up SOD but didn't tell me he did and therefore also didn't tell me what it meant. So when we got the diagnosis I didn't know what to think (good or bad). When we got off the phone Jeff was upset and I was somewhat in la la land. I said to him, "How bad is it?" He looked at me and all he said was "It's bad.". Now those who know me well know that I am big into Google and looking up anything and everything relating to health conditions (I'm a little paranoid that way). For this I didn't go near the computer for weeks. I just didn't want to know. Irresponsible of me? Yes, probably. But I just wasn't ready to know or accept that something was really wrong with my baby. I just needed to stay in my happy little bubble of denial a little bit longer...it's where I felt safe. I can't remember exactly when I got the nerve to look up SOD but when I did I felt pretty sick and angry.

If you don't yet know what Ryan's condition is all about then here you go:

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.

In Ryan's case we knew at the time that he had a significant visual impairment but wasn't completely blind (he had at least light perception), we learned through the standard blood tests that are ordered from an an endocrinologist that so far his pituitary problems were only causing a low thyroid which is easily managed through daily medication. We also knew he had Hypotonia (floppy baby syndrome as it is also called). At the time he displayed no seizure like activity...that was soon to change down the road. The next step in determining his endocrine function was a 5 hour long cortisol and growth hormone test. This happened at 7 months and he was such a trooper. Every half hour he had blood taken through an IV that the pediatric nurse was miraculously able to get going from his head. It was a struggle to get the blood out however, they had to literally squeeze and pull the blood out of his head...this happened 8 times over the 5 hours. He was so exhausted physically when the day was done and I was exhausted emotionally. It was time to go home and wait for the call to tell us if he would require life long growth hormone shots and additional medication to keep his cortisol levels stable. If there were problems with either he would not grow and he would not be able to protect himself from infections. Thankfully his tests came back clear! Good news at last!

January 2011

Jeff, Ryan and I met with the pediatrician at the end of December but the little guy was so tired he just slept through the entire appointment and the doctor was therefore unable to properly assess him. We returned a month later and again Ryan was quite sleepy. The doctor asked us to take some video of Ryan tracking objects as well as some tummy time shots and to send them over via e-mail. The next day I got "the call". It was January 19, 2011 a day I will never ever forget. The doctor started off saying what a great job we did getting the video etc... I remember thinking he sounds so relaxed and ok with the video. Everything must be ok...nothing is wrong with Ryan...no, not my baby. His next words and those there after caused such a reaction throughout my body that I still don't know how I remained standing. He said, "I have some concerns"...he then went on to say he was setting up appointments for a cranial ultrasound, an MRI of his brain and appointments with a neurologist and an opthamologist. He also said that he wanted to come to the house the following day to examine Ryan. When was the last time you can remember a doctor making a house call? Pure terror had griped every single molecule in my body. Jeff was on "nights" and fast asleep up in bed oblivious to what was taking place just one floor below. I called my Mom...I'm not even sure she could understand anything I was saying through my tears. I then had no choice but to go wake my sweet baby boys Daddy and share the news I was just told.

January 21: Neurologist appointment - We were ushered into a clinic room and spent time with a resident who asked us countless questions about Ryan. About an hour after walking into the room the neurologist came in followed by 4 students all who were so giddy and excited to be learning something new...all who were clueless to the fact that Jeff and I were doing everything we could not to puke from fear all over their annoying little clipboards. The neuro asked us some questions, did a very through exam of Ryan and then sat down to talk with us. He told us he felt Ryan had a condition called Septo Optic Dysplasia. Jeff and I sat there with tears of fear and stress in our eyes and dense looks on our faces. We weren't told much really. The neuro didn't elaborate on the condition as he needed further testing done in order to give a firm diagnosis. Understood but at the time Jeff and I were clinging to every word he was saying waiting for him to give us some sense of relief or comfort. Instead I was in such a state of confusion and terror that I asked such questions like "Is Ryan going to die?". All he could say to us was, "Take him home and love him". Seriouisly, that is exactly what he said to us. Jeff and I just clung to each other sobbing in that damn cold, unfeeling clinic room not knowing what to think. We walked out of the neurologist office literally numb and unable to speak. Four days later we laid our 3 month old Ryan down on the ultrasound table and watched the technician probe around the soft spot on his sweet bald little head taking pictures...he slept through the entire process.

January 28 - Ophthamologist appointment - This was and still is the most gut wrenching appointment we had. The ophthamologist did some initial testing, he then went and got an assistant to help him. Jeff and I weren't sure what to expect even after we were told in great detail what was going to happen. The assistant took us to another room and had me lay our little guy down on a table. She then literally held him down with all her might while the eye doctor propped Ryan's eyes open with these evil looking grip things. The screams that came from Ryan were ear piercing and frightening. I wanted to punch both the doctor and assistant in the face...I probably would have too if Jeff hadn't been there holding me back. Once they were done I quickly scooped Ryan up and we were told to go back to the exam room. I sat in the big black chair with Ryan in my lap while I listened to the doctor tell us that Ryan's optic nerves were underdeveloped. Ok, I rememeber thinking that's okay...to be honest I didn't even know what an optic nerve was at the time. But then he explained and all the air rushed out of my body, I'm sure all the blood pooled down to my toes. The room spun and if Jeff hadn't taken Ryan I'm sure I would have dropped him. He said (and I really don't recall his exact words...just what they meant). Ryan was blind.

The beginning...

Ryan was born on Friday, October 15, 2010 at 12:08pm. He was a healthy 8lbs. 2oz. and 21" long. The first few weeks were spent getting on some sort of a schedule...very difficult to do but an absolute must as his older sister Quin (just 18 months old) needed her Mommy and Daddy ready to play at the drop of a hat! At Ryan's 4 week check up I addressed a concern to the doctor. "I don't feel connected to him at all." I bathed him, fed him, kept him warm, dry, clean and cuddled...but I never felt that he was "with me"...something seemed off. His doctor assured me that I was probably just feeling overwhelmed being a new Mom again and having Quin who was still so young and needing so much of me. I agreed and went home feeling a little better. Time went on though and at his 2 month check up I told her I was feeling the same and that it didn't help that he never wanted to look at me (little did I know at the time that he was unable to see me). There were also some concerns that he always seemed to have his head twisted off in one direction...generally to the right. One of his eyes seemed a little off as well. The doctor decided to refer us to a pediatrician just to be on the safe side. This struck the fear of all fears in me as I thought what could be the problem. He looks great...he's growing...he's acting like a baby. Nothing is wrong with him...no, not MY baby...he's just fine.