“Might”

After 2 years, I had to contact the genetic counselor (who we consulted during our pregnancy). She is the one who, after an amniocentisis, basically told us outright that we should abort.

Because there were SOME cells (aka mosaicism) on chromosome 1 that showed an additional isochromosome for the long arm, he MIGHT be mentally retarded, he MIGHT have heart defects, he MIGHT have maldevelopment, he MIGHT have a cleft palate, he MIGHT have had small eyes, he MIGHT have seizures. That’s a lot of MIGHTS. They only had three cases that were similar, but not the same. In those three cases, all three babies died before the age of 3 months. So, I guess her thought was that we should not put ourselves through that. She had no concerns about ending a life because of the “Mights”.

We did go on to have a cordocentesis (where they draw blood from the umbilical cord, in-utero, rather than use amniotic fluid). Those results came back perfect.

Even though one test was fine, the results of the amnio lingered, and the entire rest of the pregnancy was filled with stress, fear and doubt. Looking back, we really should not have even gotten the test, as the results would not have changed our decision. We may not be extremely religious, but we have morals and strict beliefs, including the fact that life begins at conception. So, for us, aborting would be the same as murder. I don’t care about the word “viable”. My little guy had a heartbeat, he had a brain, he had arms, legs, fingers and toes. He could swallow and kick. That, my friends, is LIFE. (Please, there is no need to make any nasty comments if you don’t agree with me, as this is not the time or place, and you aren’t going to change my mind).

I still hold a bit of a grudge against the woman who told us to abort our beloved little Zane. Maybe he isn’t medically perfect, but he is absolutely PERFECT to us. I absolutely, without a doubt, can not imagine my life without him. He is an amazing little soul!

Chatting with the genetic counselor via email today brought back a lot of negative memories. I just needed the records, but she asked some questions. I wish I could tell her he went on to be completely healthy, and that she was wrong. But, alas, he does have some medical issues. Yes, he did go on to have seizures, and yes, he is developmentally behind as a result. But, I wish I could explain to her that those things do not make me wish he was not born. There has never been a moment that I wished I had made a different decision. He is a person. He is more than the list of diagnoses on a piece of paper. He is AMAZING.

She MIGHT want to eat her words.

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I’m on several forums with other I.S. babies, and have “met” some interesting people from around the world.  The forums I seem to frequent are those on facebook, simply because the posts show up in my feed whenever I log in.  Tonight I clicked one, then a link, then another link, and then I ran across this article called Infantile Spasms by Numbers:  http://blog.timesunion.com/austinbenconnor/2008/09/30/infantile-spasms-by-numbers/

As you can guess, it delved into all of the statistics about I.S.  I haven’t looked into the numbers and I haven’t done any of the math myself.  But, this is the quote that stuck out at me about kids who have had I.S.:

Overall mortality before age 18 is then about 12%- one in eight.

One more time, and in bold. One in Eight.

Look around your town, your supermarket, your place of work. Would you notice one in eight people gone?

 

I guess it just struck a cord with me after the death of our speech therapist/friend’s son.    I’m just having a hard time getting past this.  We were already told once that the only 3 cases like his (but not exactly like his) had deaths in-utero during the 3rd trimester, at 5 days old and at 3 months.  But our little guy was born healthy and perfect.  Each time we got past one of those timelines, it was a sigh of relief.  Then, after he was past 3 months and was still healthy and perfect, we celebrated and we thought that the doctors had been wrong, or the test had been wrong, because our son was healthy.  Then a month and a half later, the spasms started.

I’ve probably seen nearly 10,000 spasms.  I really hate that word too.  Spasms.  It sounds so benign.  But, it’s like having a hundred tiny little seizures in a day, just over and over and over.  It doesn’t matter if they have one big one or a hundred tiny ones, no one should have to go through that.  Nor should any parent have to watch their child go through that.  Watching each spasm was like watching my heart break in a thousand tiny pieces.  Just the thought of it brings back so much of my pain.  Thankfully, he doesn’t remember.

For about 8 months (5 in-utero and 3 after birth) we worried about death.  Then we had a month and a half of wonderful time with our healthy son before all the worry came back.  Then we did everything we possibly could to help him, and thankfully, he was one of the lucky ones.  But, still I worry that the seizures will come back.  I still worry about death.  I know my son is doing well.  I want to enjoy it.  I try to.  We play.  We sing.  We dance.  He’s doing amazing.  But, the doctors are all sure to tell me that chances are he will have other seizures as time goes on.  The longer he goes without is good, but by the end of the year, they will probably take him off all meds.  It’s terrifying.  He’ll be about 2 1/2.  Between the ages of 2 and 6, many I.S. kids go on to get a similar type of uncontrollable seizure type called Lennox-Gastaut.

I want to pretend everything is okay.  It seems okay.  But, every time things start to settle down, something happens.  I guess I’m just getting used to waiting for the next thing.  I’m tired of the worry.  It’s exhausting.  But, I doubt it will ever go away.  

 

 

Sharing tears

This morning we saw Zane’s speech therapist, who we haven’t seen in about a month.  The last scheduled appointment was on a Tuesday when the weather forecast was predicting that the roads were going to be really bad.  So, I texted her the night before to see if she wanted to go ahead and reschedule.  She texted me back and told me that someone from the agency would be calling me.  Then she told me why.  Her oldest son had passed away.

I was in shock.  I knew he had epilepsy. We had bonded over talks about our sons, seizures, and the fact that they had been seeing the same neurologist we see, but they had been going to her for the last 14 years.  But, I never expected this kind of news.

He had just turned 21.

His seizures were never quite controlled, not long term.  I remember her telling me how hard it was as he became a teenager who wanted independence, but he always needed someone around.  Just think about how hard it would be to be that age and always have your mom right there.  But that’s what she had to do.

In January, he had gone to the kitchen to make a snack, when she heard a loud noise.  She called for him, but no answer.  She rushed to the kitchen and found him on the floor, in a puddle of blood.  She called 911, and he was rushed to the hospital, but he was okay.  But he had hit his head.

She took a week off to take care of him and get someone who could be there with him while she worked.  Everything else was normal.  Then, the morning she was supposed to head back to work, when she went to get him up, he was gone.  They think that he had a seizure in his sleep. 

It gets worse. Apparently whenever a person dies in your home, no matter the medical condition or circumstances, the police have to treat it as a homicide until they rule it out.  So, she was told she could not go into his room as the paramedics were there performing CPR, and the police stayed there in her home to investigate as she and her husband went to the hospital.

It was there that they took her into a room and told her he was gone.

As she told me this story, I could not help but tear up.  Then we just stood there with tears running down our faces.  Even though our boys are different ages, with different types of epilepsy, she said she knew I would understand.  I do. 

Seizures suck.

Feeling Thankful

A few days ago, with Zane’s 2nd birthday nearing, I started feeling the need to print some of our pictures to put in Zane’s baby book.   Looking through all those memories triggered a letter to our neurologist, and I thought I would share it here as well.

Dr. Von Allmen,

Tomorrow, Zane turns two. I can’t even believe it. Two! Our daughter is ten, so I know how fast time flies. But, it’s different this time. As I try to put pictures in his baby book, I feel so much sadness. Not only has time flown by, but this time we were robbed of so many precious memories. We missed out on so many smiles, so many giggles, so many splashes in the tub. We missed out on spaghetti sauce faces and dropped toys just to see how gravity worked. Instead of cute videos of silly moments, we have videos of seizures for documentation. Instead of pictures of new milestones, we have pictures of EEG’s in the hospital. We missed out on so many silly little things that most parents take for granted.

When he should have been gaining new milestones each day, we watched the milestones he had already achieved fade until he had none. None. At eight months old, he was like a newborn. But, his body had grown, so taking him up and down the stairs or giving him a bath was like holding a twenty-pound limp noodle. Our sweet baby boy, once healthy and thriving, could not even hold up his own head. He was expressionless, and nearly motionless, except for spasm after spasm. He was gone. Our son was gone.

After having several experiences with different teams of neurologists (no less than 6), plus countless residents, at a well known hospital, you would think that someone would have gotten the diagnosis correct. Or, at the very least, that one of them would have scheduled a longer EEG. You would think that one of them would have listened to us about how the seizures were changing. You would think that one of them would have watched our short video clip. But up until then, we weren’t so lucky.

But, then we found you. You didn’t even know us yet, but you took a quick moment to watch a video clip that had been emailed to a nurse’s phone and handed to you by a resident. (Our first neurologist wouldn’t even watch the video during our scheduled appointment). You had us in within two days for Zane’s first 23-hour EEG. Sadly, it all confirmed my fear that it was, in fact, Infantile Spasms. But, you moved quickly to get us in, get it diagnosed and start an appropriate treatment. Zane’s path wasn’t an easy one, but thankfully, we found our miracle. (I never would have thought I could have been so happy to give my own infant shots in the leg each day for months, at thousands of dollars each. But, once it started to work, I was)!

Within a few weeks, we started to see his smile come back, then his giggle. We started to see milestones he had lost return. Then we saw new ones. Now we have have cute videos of laughter and pictures of that spaghetti stained face. With lots of therapy, we helped him learn to crawl, learn to eat, and learn to walk. Now he’s jumping, dancing climbing and nearly running. He is becoming quite the toddler, testing limits with a smirk on his face and a twinkle in his eye.

I know from online forums that many babies with I.S. don’t have the same outcome. So, I do know that some part of this may be luck. Yes, Zane is lucky. But, part of his luck was finding you to be his neurologist.

So, from the bottom of my heart, I thank you. Thank you for listening to us, thank you for being kind and most of all, thank you for helping our son. He would not be where he is today without you and your wonderful team.

With much appreciation,
Holly Guillaume

Blessed

Last week, my husband and 10-year-old daughter were both sick with a head cold and cough.  This week, Zane and I got it.  Zane was a little warm yesterday, so we alternated ibuprofen and acetaminophen, which seemed to do the trick.  Normally, we don’t even treat a mild fever, because we’re believers in the way your body is designed to fight off a cold with a fever.  If you treat the fever, then you take away your body’s ability to fight.  But, with Zane, it’s different.  Fever can itself cause seizures in some people, called febrile seizures.  While febrile seizures are not related to epilepsy, I certainly don’t want to take the chance that one would re-trigger the I.S.  I’m not sure if that would or could happen.  Probably not, though I don’t think anyone can say that definitively.  But, I don’t want to chance it.  So, for him, we treat even mild fever.

Last night he got a dose of medicine before his bed time.  I intentionally stayed up until midnight to make sure he got another dose.  Getting woken up in the middle of the night and having medicine squirted into his mouth did not go over very well.  But, I felt better knowing he got a night-time dose.  Then I put myself to bed, after giving myself another dose.  This morning, when my husband got up to go to work at 5:30, I asked if he would check on Zane, which he did.  He brought him to my bed and laid him down.  Still groggy, I reached over to touch him and he was burning up.  Boy, if that doesn’t wake a mom up fast, I don’t know what will!  I immediately gave him another dose of medicine and started trying to cool him with a washcloth.  Again, that did not go over well.  You know how when you have a fever, you actually feel cold, like you can’t get enough blankets on.  Well, that’s how he was.  His little knees were shaking and his teeth were chattering, like he had just gotten out of a polar bear plunge.  Poor little guy.  His under-arm temperature was 102.3, which is equivalent to 103.3 oral.  That’s a scary range for any mom, but especially to a mom of a little one with epilepsy.  I kept trying to cool him off, but an hour later, the fever had barely gone down, so I alternated medicines and gave him another dose.  Thirty minutes later, it still hadn’t come down.  So, I got my daughter out of bed early, and jumped in the car.  I knew we were going to be right smack dab in the middle of rush hour, and we’re about 35 miles away, which could easily be an hour and a half at rush hour.  I decided to just start driving then, instead of waiting any longer and getting stuck in even more traffic.

Then, at a stop light, hanging my head low in shame, I texted our pediatrician.  We had an 11:00 appointment already scheduled.  But, when you have a feverish little one, that seems like forever.  When my daughter was little, I would have made due and waited until the appointment, and everything would have been fine.  Things probably would have been fine today too, but I was scared.

This is where the title of my post comes in.  “Blessed”.  Yes, we have been blessed in finding the most incredible people during Zane’s journey.  Seriously, INCREDIBLE people.

Dr. Kelly Olson (of Bootin and Savrick Pediatricks) is simply amazing.  Yes, I could have gone to urgent care or even the E.R., but then I would have had to explain Zane’s condition, and I guarantee I still would have gotten an eye roll or two.  Many doctors aren’t familiar with Infantile Spasms and just how scary it is, and we’ve found a lot of doctors are too arrogant to actually listen to a parent and their concerns.  But, once in a while you find doctors like Dr. Olson, who go above and beyond the call of duty.  Dr. Olson met us at the office before it even opened.  Seriously, before it opened.  The main lobby was closed, the lights were out, there were no office staff and just one nurse.  But, she got us in, got him checked out and gave him a prescription.  She even gave my daughter a quick look to make sure she was doing well since she had been sick last week.  What doctor does that?  Not many.  But ours did.  She is truly a special person and I am so incredibly thankful!

Thank you Dr. Olson!  You’re the best!

Besides being blessed with incredible doctors, I’m also feeling blessed that the high fever has not caused Zane any more trouble than any other toddler.  For over a year now, fever has been my biggest worry.  He held it off pretty well, but I knew it would eventually rear it’s ugly head.  Today was that day.  But, it’s down now and he has started on antibiotics.  Phew.  Now I can breath a sigh of relief!  Hopefully he’ll be feeling better by tomorrow, which is his 2nd birthday!  🙂