ClubRandy: Randy Scott's Random Thoughts

My wife and I just returned from seeing Isabelle’s pediatric neurologist.

First of all, the enormity of that sentence just hit me. Nobody takes their kid to see a pediatric neurologist when everything is going well.  You don’t just wake up one morning and say to your spouse, “hey, let’s take the kid in to see the pediatric neurologist to show him how awesome our kid’s noggin’ is!” 

Isabelle, who turns one year old this month, has been on a course of medication for her seizures for several weeks. A week ago the doctor added an additional medication.  Then a couple of days ago he upped the dosage.  Though Isabelle initially responded to the medication (her seizures went from around 80 per day to 20 per day), the fact is the seizures have continued. The thing about infantile spasms is that they have to stop completely or they will continue to do long term damage to the child’s brain.  Since they haven’t stopped completely, we had to see the doctor again.

It started this morning with Isabelle getting another EEG.  The bad news is that it was very difficult for them to get a good reading because Isabelle was squirming so much.  The good news is that they had a hard time getting a good reading because Isabelle was squirming so much.  Before the first drug Isabelle was essentially in a state of what I can only describe as an “awake coma.”  She didn’t make eye contact, she didn’t make noise, she didn’t move, she just sat and stared at nothing.  Once we started the first medication she became more alert, started rolling around in her crib at night while she slept, making noises when she wanted to be picked up, and even made occasional eye contact.  So the positive side to all of this is that the original medication seems to have started her in the right direction, but unfortunately, the addition of the second protocol did not have any effect.

Today the doctor told us that he was bringing in a second pediatric neurologist to consult with him on Isabelle’s seizures.  Though she has all of the classic signs of infantile spasms, her EEG does not seem to match what they look for.  But with that said, he told us that pediatric neurologists will get together at conferences and essentially fight about what to look for when diagnosing infantile spasms.  I guess that comes with the territory when your seizure disorder is this rare. 

So tomorrow it looks like Isabelle will be hospitalized.  The main reason is so they can give her a longer EEG and monitor her brainwave patterns and hopefully catch several of the seizures on it so they can better see what they are dealing with.  If it turns out after looking at the longer EEG and consulting with another expert that they are confident Isabelle has infantile spasms, then she will immediately start on a new medication.  This is the one I was telling you we hoped to avoid.  It has some nasty side effects including a suppressed immune system; a simple case of the sniffles can put her in the hospital while on it.  Plus it tends to really drive up the blood pressure, so she would be on blood pressure medication to control it.  There are also a host of other potential side effects like extreme bloating, etc. that I won’t go into detail about yet.  Worst of all, she would need to be on the medication for at least 10 weeks, administered by injection twice a day.  She would be home with us for all but the first few days, but we would be the ones stabbing her twice a day.  No parent wants to do that.  

And a little about this particular medication, ACTH.  It ain’t cheap.  Turns out if Isabelle goes down this course of treatment (which has about a 90 percent success rate with infantile spasms) it will cost upward s of $100,000.  (ONE HUNDRED THOUSAND DOLLARS!!!) I asked the doctor why it was so expensive thinking it must be difficult to manufacture.  He told me through clenched teeth, “we can thank the drug manufacturer for that, which I see as nothing short of criminal.”  Turns out a couple of years ago, the company who makes this drug came to the conclusion that they were the only ones and could charge whatever they want for it.  Used to be that the treatment cost $10,000.  But a couple of years ago when a new president took over the company they increased the cost to $100,000.  You can do that when you’re the only game in town apparently.  I have never heard a doctor so angry before as when I heard Isabelle’s doctor talking about this drug company.  It’s apparently the one thing that really knocks him off his normally quiet, calm bedside manner.

But…

If it turns out after the overnight hospitalization they decide that it is likely NOT infantile spasms, then they would approach Isabelle as if she has a different seizure disorder.  If that turns out to be the case, they would try a different medication with more benign side effects.  But the course of treatment would be for several years rather than weeks.  And if it turns out after years of this other treatment that it is infantile spasms after all, then we would have lost valuable time to save Isabelle’s development and prevent permanent brain damage just to go on the ACTH anyway.  I asked the doctor, “I know it is what it is, but if you were me which would you be hoping for… infantile spasms or a different seizure disorder?”  He told me that one is a relatively short, horrible treatment… the other is a long, not so horrible treatment that might not be effective.  That, I decided is the best definition I’ve ever seen for “rock and a hard place.”

I share all of this because I know many of you care about Isabelle and have been praying for her during these first two drugs.  As we move on to the EEG and inevitably one of the drugs tomorrow, we just ask you keep our family in your prayers; especially Isabelle’s big sister Tessie.  As we were explaining that Isabelle would likely be in the hospital she said “but they can’t take her!  She’s my baby!”  While my wife was pregnant with Isabelle, Tessie had a lot of plans for her little sister.  We had gotten past the initial shock and learning curve that Down Syndrome brought when Isabelle was born.  In fact, the Down Syndrome is no big deal anymore when faced with these seizures.  But Tessie needs a supernatural boost to get her through this.  We’d also ask for you to pray that the doctors are guided to make the right diagnosis of Isabelle so we can start the right treatment plan and make these dang seizures go away.  And finally, we’d love prayers for strength for my wife and me so we can stay positive during this unsure time. 

As always, thanks.  And I’ll keep you updated as soon as we know anything else.

R

Just a quick update on Isabelle’s condition since she’s being diagnosed with Infantile Spasms.  (Read that original post here: http://clubrandy.com/post/9105237591/isabelle-medical-news) Though the spasms have decreased dramatically since she started her first medication, down from 70 seizures per day to about 20, they have to be completely gone before we can be confident that she’s out of the woods. So yesterday the neurologist made the call to start the second round of drugs to help stop the seizures.

As I mentioned, this new round will have a few side effects, but nothing as severe as the ones that Isabelle would experience if we have to go to the next round of drugs.  (So we’re REALLY hoping that this new round works!)  She will be on this new medication cocktail for two weeks, and then will have another EEG to see if the seizures have ended.  It’s odd because a month ago I hadn’t even heard of Infantile Spasms, and now there’s a story on the front page of the Idaho Statesman this week.  (You can read that story here: http://www.idahostatesman.com/2011/08/29/1776759/radical-brain-surgery-frees-baby.html#storylink=misearch)

Even though the medication she’s been on has not completely eradicated the seizures, we have noticed a change in Isabelle’s personality since they have been reduced. She is more alert, more interactive, and generally seems happier. Now, we just have to make them go away completely so we can move on with life. Again, prayers are always awesome.

R

Despite the diagnosis of Down Syndrome, Isabelle was doing exceptionally well when it came to social development in her first six months.  She was an alert, smiling, happy baby. Then five months ago things started to change. Subtlety at first; she became more lethargic, smiled less, and wouldn’t make eye contact as much.  Then there were the flinches. From time to time her whole body would bend as if she were doing sit-ups, although very violently and involuntarily.

As time went on her social development not only slowed down, but actually began to go backward. She went from holding and shaking a rattle to having no interest whatsoever in anything or anybody around her. We were told at first the flinches were just her learning how her body works and she was probably trying to poop. As we pressed with the other issues we had noticed we were told that the flinches were just a “startle reflex” and that the slowed development was because of the Down Syndrome. But that didn’t set right with us.

One thing I’ve learned from my years doing the St. Jude Radiothon on the radio is that every single parent echoes the same thing, “we went to (insert startling number here) different doctors before somebody realized we weren’t crazy and that something was really wrong with our child.” I shared my concern with a friend who has a daughter with special needs and he recommended the doctor who cares for his daughter. We decided to see him as another opinion.

It was Dr. Roy who suggested that Isabelle’s increasingly intense flinches (some so strong and sudden that she would throw herself from a sitting position flat and painfully on her little face) might be a sort of seizure. He ordered an EEG and then a referral to a neurologist. We took Isabelle in for her EEG earlier this week and set up an appointment with the neurologist for next week. Yesterday though, we got a call from the nurse telling us “we have an opening now and really want the doctor to see Isabelle tomorrow.”

Our stomachs sank with fear.

Our fingers googled furiously trying to guess at what we might hear. Autism, leukemia, you name it, we attempted to prepare for the news. And we prayed hard that we would at least get an answer as to why our daughter had no interest in the world around her and was experiencing such intense seizures that she was injuring herself. Today we visited the neurologist and after examining the EEG and the videos we had taken of Isabelle “flinching” he told us with over 90 percent certainty that Isabelle is having infantile spasms. Though more common in kids with Down Syndrome than “typical” babies, they are still very rare. His pediatric neurology practice is the only one in the state of Idaho, so if your child has neurology concerns no matter where you are in the state, you come to see him. And with that, he only sees about 4 cases of infantile spasms a year.

You can look on the internet about infantile spasms if you want to learn more, but trust me, what you find isn’t terribly encouraging. Because of its rareness, it has garnered very little study. Plus there is the thought that they go underdiagnosed or misdiagnosed as was becoming the case with Isabelle. The short answer to what they are, is they are a kind of epilepsy when left untreated can lead to permanent brain damage. The only course of action at this time is medication. The medication Isabelle started on tonight seems to be successful in 1 out of 4 children diagnosed with infantile spasms. (And this is where you come in… we really need prayers that she is indeed that 1…)

If after two weeks the medication has not stopped the seizures (at which time Isabelle’s development should return slowly to normal) she would go on a different drug cocktail, one that includes a steroid with a series of side effects. We hope we don’t get to that place. But if after an additional two weeks on that new medication we don’t see the seizures stop, then we would go on what the doctor described as a “a drug with a steroid on steroids.” That would be the last course of action and it carries with it some very, very intense side effects. Like I said, we’re hoping the course of treatment we’re on now is successful and we don’t have to move onto step two (let alone step three).

I am encouraged now that we have an idea of what is wrong with Isabelle. And I’m praying that the drugs she’s taking now return the smiling little baby who loved to look us in the eye that we had in our arms five months ago. So if you’re still reading this, I ask two things of you. First of all, for prayers that this drug works. And secondly, promise me that if your gut tells you that something is wrong with a child in your life, push and push and push until you get an answer. A parent’s gut us a gift from God.  So use it.

R

2004 was quite a year.

It was the year I married the love of my life. It’s also the year that my beloved Red Sox won the World Series for the first time in multiple generations. It was the first year I ever saw a game at Fenway Park in Boston, which happened to be Game 2 of the World Series. And it was the year we adopted our dog, Fenway.

My wife and I decided one fall day to go to the Seattle Humane Society and look into getting a dog. I had lots of criteria for this potential dog. I wanted a male cattle dog, preferably a puppy. What we found that day looking at us through the cage with large, sad almond eyes was a one-year old odd brindle mix with legs that looked entirely too short to sustain her frame. (We said later she looked like a sawed-offed German Shepherd.) But something about this dog captured out hearts despite the fact that she was exactly the opposite of what I thought I was looking for. So we took her to the “meet & play area” where we learned quickly about her love of playing fetch and licking you wherever you happened to have exposed skin.

She would roll over, show her belly, & melt into a wiggly mess if she saw people, especially children and would beg to be loved on. After a few moments of interacting with this four-legged snuggle machine we were shocked to discover that she had been adopted out twice before, and twice returned to the shelter. That sealed the deal for us. God had intended for us to be her family. We filled out the paperwork and “Fenway” was our first pet as a married couple.

I had cats before we got married and Ananda had cats before we got married, but Fenway was different. It felt like she was the first serious thing we would have in our life as a family. Though Fenway, who turned out to be a Cardigan Corgi / Plott Hound mix, was incredibly docile and loving we decided it would be best to introduce her to our cats slowly (and honestly to make sure she wouldn’t eat them…). So the first night in our home we decided to put Fenway in our office for the night behind a closed door. It took about 20 minutes of listening to her whine before I grabbed a blanket and my pillow and lay down on the floor of the office with her to sleep and keep her company in her new home.  She spooned her body up close to mine and slept like a rock, probably the first good night’s sleep she’d had since before she was in the shelter.

We joked the first year Fenway was with us that “one day we would HAVE to have children for the dog.” Whenever she saw kids it was like her back end would start moving independently of the rest of her as she wiggled her way to them for attention. She may have had issues with other dogs, but never with people. After Tessie was born Fenway decided that since this new creature was the weakest member of her pack it was her job to stick next to her like glue, sleeping every night first next to Tessie’s crib and later next to her bed. When Isabelle was born earlier this year, Fenway quickly realized there was a new baby in the pack and moved from Tessie’s side to sleep next to Isabelle’s crib.

When she wasn’t next to the girls you could find her chasing balls in the backyard that I would throw for her. That is until she decided that the game was over. She would ‘fake me out’ by pretending to drop the ball already in her mouth as I threw the one in my hand. Then she would quickly pick up the one she pretended to drop and go after the one I had thrown as well. All the while I was laughing “Cheater!” at her as she merrily trotted off with both balls in her mouth.

Several weeks ago we noticed that she had a small sore in her mouth. We found out from our vet that it was an osteosarcoma and that there was nothing we could do short of removing most of her lower jaw. And even then, they couldn’t be sure that it hadn’t already spread to other parts of her body. Having recently been through the death of another very dear pet (my 17 year old cat Stipe just last December), we knew there was no way we would allow Fenway to suffer, nor prolong her suffering because of our selfishness. We made the decision to manage her pain as best we could, give her some very happy last few weeks, and when it was time to let her go, we would let her go.

Today was that day.

She had stopped eating and was clearly in pain. Her quality of life had severely begun to suffer. Ananda and I made the decision to say goodbye. We explained to Tessie, now five years old, that Fenway was going to Heaven today and that when she and I left she wouldn’t be coming back to the house. I wasn’t sure how Tessie would react considering her reaction to Stipe dying wasn’t terribly intense. But clearly growing up for five years with a sweet, devoted dog next to your side is very different. Tessie’s eyes filled up with tears and she began sobbing.

“I don’t want Fenway to leave yet,” she cried. “I wish she didn’t have cancer.”

After a few gentle moments of cuddling, scratching, and petting Fenway, Ananda and Tessie walked Fenway and I out to the car and they said goodbye to her. Fenway hopped into the passenger seat excited to travel just like she did whenever we went anywhere together, including the long drive by my side from Seattle to Boise when we moved here.  I brought along one of her balls and put it next to her in the passenger seat since she was now having a hard time holding it in her mouth because the tumor had grown so large it filled most of the right side of her lower jaw.

I won’t go into many more details about the experience at the vet because honestly I’m crying as I write this and it hurts to relive it. But in her final moments she did pick up her ball in her sore, bleeding mouth one last time. Then she lay down on the floor of the veterinarian’s office and spooned up next to me just like she did on the first night she came to live with us. And then she was gone.

That was only earlier today and already the silence in the house is deafening and the ache in my heart is huge. I miss her so very, very much. But I believe completely that Jesus is playing fetch with her in Heaven as I write this. (Fenway… you better not cheat while playing with Jesus….) I am blessed that for almost eight years, Fenway was a member of our family. But as Tessie just said to me “when we die, we’ll see her again Daddy.” Yep. Thank God, we certainly will.

As you probably know, my youngest daughter Isabelle who was born last year has Down Syndrome. Last year was our first Buddy Walk, just weeks after she was born. A lot has happened since then and we’re really looking forward to this celebration of our beautiful little girl.

Blessings,

Randy

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