A Heart Shaped EEG

On Valentine’s Day you may have noticed every mom posted some adorable picture of their child in/with some Pinterest craft, shirt, pose, or food. I too wanted to post something stunning to make the Facebook world say “oh she saw that on Pinterest – it looked much cuter on Pinterest.” But alas my Valentine’s dreams of taking cute Pinterest worthy pictures of my boys decked out in red as homemade glitter hearts fall from the sky came to a screeching halt. Instead I spent 5 hours at Lurie Children’s Hospital walking from the EEG center to the doctor’s office to the labs to the pharmacy all while carrying a baby carrier and two bags with no stroller (that was my fault). Let me backup a few months . . .

Imagine large glitter hearts falling from the sky and some cute photoshopped saying about love and Valentine's Day

As we began our research on Wolf-Hirschhorn back in early 2012 one of the things that struck as scary were the possibility of seizures. 90% of kids with WHS have seizures yet every family we know, through the support group, has a child who has had at least one seizure. Therefore, our research tells us 100% of children have seizures.

Just like everything else we have anticipated with WHS we expected JD’s future seizures were going to be the Hollywood afterschool special version. Very intense with a long ambulance ride and extremely traumatic for all of us. But in true JD fashion he eased into his seizures with swagger.

Please know I am in no way downplaying the severity of seizure activity. They can be very scary, very dangerous, and very harmful . . . yet, for us, as we do we with everything else JD encounters along his journey, we find the positive side to the story. It is a blessing he eased into his seizures and for that we are very grateful.

Around 5 months JD started to slightly jerk or twitch or blink at random times throughout the day. No pattern just a little twitch here or a few head shakes there maybe a couple of eye blinks to top it off. So, I added it to my list of questions for Dr. D and pushed it aside.

(sidenote: I go in with no less than 9 questions each visit to which he usually says “let’s start off with your questions and go from there.” If I used hashtags I would say something like #howtodealwithatypeAorganizedmomwhospent8yearsinadvertisingtryingtostayaheadofpotentialproblems  . . .but I don’t use hashtags)

September: The wonderful pediatrician Dr. D was not overly concerned but had a conversation with the head of Neurology at Lurie’s (only the A Team for JD). Dr. Neurology (figured it easier to call them by their specialty rather than their name) wanted to do another EEG (JD had a baseline EEG during his NICU stay). This way she could compare any difference between the two. We ended up doing the EEG as an inpatient when JD was in the hospital overnight back in September. As we were being discharged Dr. Neurology breezed by with a thumbs up telling me his EEG looked good. Ooooookay, now what?

October: The jerking and blinking continued with more frequency and some patterns. It was agreed with D. D we would see Dr. Neurology in person without another EEG. The initial EEGs were done when he is sleeping and at the time JD was not displaying this activity during restful periods. Rather than sit through another EEG only to receive another thumbs up we wanted Dr. Neurology to see him in person. The meeting went well and it was confirmed this was not seizure activity. She felt it was spinal cord immaturity and reflexes to external or internal stimulus. It should also be noted his reflux issue was getting worse around this time which we believed contributed to much of the blinking.

January: Over time the jerking slowed and throughout the month of January disappeared. However, we were now at 9 months when seizures start to show themselves leaving Nate and I playing the fever game. Reverse any increase in body temperature immediately. JD usually feels warm to the touch but hangs out at high 97 or low 98 degrees so anytime he gets into 99 we went into to full-blown management mode.

What does a fever have to do with seizures? From what we have read about the other families in the group almost every first seizure and those after are preceded by a fever. We felt if we could keep the fevers at bay then maybe we could keep his seizures away  . . . at least for a little while. Those of you who know us know we are naive. From day one Nate and I knew JD would in fact, have seizures.

The science geeks out there will love this – they (they being scientists and researchers) have done research where they think they can isolate the segment within the 4^th chromosome that can control seizure activity. Therefore, if that segment is missing seizure activity will be hard to avoid. And you guessed it JD is missing that segment . . . along with many, many other segments. Whether or not the research is correct does not matter. Nate and I always knew JD would have seizures. We are Preppers not the crazy Doomsday type Preppers, but we like to be prepared.

February: During the first week in February JD’s jerking activity got worse. One day in early February he jerked, twitched, and cried on and off for 30 minutes. Yet, his oxygen levels were still good. One of the most important things is to ensure he does not have a lack of oxygen during a seizure. At that point I was not even sure it was a seizure because he had been jerking and twitching a lot in the recent days. Instead of calling the doctor I managed it myself. I hooked him up to his oxygen and his monitor and sat rocking him until he settled down. During his jerking activity I recorded the event to show Dr. D as we had an appointment the following week.

In hindsight I should have called Dr. D at that time but I do not want to be “that mom” who calls for ridiculous things. I prided myself on not being that mom with Connor so I don’t want to be that mom with JD. (Confession: One time I called Dr. D when Connor was 9 months old because he ate a fly. I have regretted it every day since). After this seizure event Dr. D has reassured me that even if and I quote “JD farts the wrong way” I am allowed to call the office and no one will think twice.

Over the next few days he continued to jerk and twitch a bit but he never had another long spell. When I showed the video to Dr. D he ordered us up another EEG ASAP. It was the day before Valentine’s Day and Nate was out of town when they called to tell me JD’s EEG was the following day. I was instructed to keep JD awake until midnight then wake him up at 4am  . . . oh, so part of the test includes a tired and nervous sleep-deprived mother as well as a sleep deprived patient. Got it!

While Valentine’s Day might not have included some Pinterest gem it did include spending time with two handsome little boys and one hot husband.

 

The outcome of our third EEG: Houston, we have seizure activity. 

I am so tired, please let me sleep

Thank goodness I have no hair or it would be even less fun taking off the tape

All these wires and I still look damn good

Good News: JD’s background EEG (baseline) has not disintegrated meaning his brain is producing the jerking movements but when he is not seizing his brainwaves return to normal. In fact, Dr. Neurology believes these are Myoclonic seizures, which are not as severe as febrile seizures.

Before you ask, yes these can and most likely will turn into big, bad seizures at some point. However, as I mentioned before, in true JD laizzez faire fashion we had no huge dramatic experience where we had to call an ambulance and fight for answers. Alternatively, JD eased us into the “scary” world of seizures with class. Dr. Neurology also told me he was the healthiest looking kid she had seen in a long time and he looked stronger than the last time she saw him. JD just looked at her and said, “obviously.”

We have now finished our first week of seizure medicine and have seen improvements with his jerking and twitching. Next week we go back for a 6 hour video EEG to discuss further options and issues. But for now JD uses the few jolts here and there to force me to take a pause during our workout therapy sessions.

Warning: the next post will be long as but very informative.

The Announcement Email: One Year (and a few days) Later

We are back. Gosh, I really enjoy writing this blog but thus far in 2013 Time has not been my friend. However, who needs Time as a friend when I have so many other wonderfully supportive friends (unlike Time).

When we first received JD’s diagnosis I read many, many, many blogs from families all over with all sorts of diagnosis. While each family, child, situation was different there was a similar thread which ran through most of the stories . . . it is lonely to be a mom of a child with special needs. Hmmmm, “why?” I wondered.

Do people pull away once they hear the words “special needs?” Are they uncomfortable around you? Do your friends and family stop talking to you because they don’t think you can handle hearing about their children? Do people judge you for being happy with what the world and society may deem an “imperfect child?” Why do moms feel so alone once the words special needs come into their lives? These were questions which weighed heavily on me everyday  . . .  that is until we sent out our announcement email.

There were a total of 43 days between the time we first heard the word “abnormality” and when we introduced JD’s syndrome to our world. During those 43 days only 7 people knew the Gawel family path had taken an unexpected turn.

During that time we attended birthday parties, family gatherings, the holidays, even my beautiful grandmother’s funeral with the full family in attendance without anyone knowing the difference. Questions were asked “are you excited” “do you think the baby is a boy or a girl” “how are you feeling” “is Connor excited to be a big brother?” With ease we answered each question with a smile but our smile lacked a sparkle (no one noticed but we did). Would these willing participates in JD’s life still be around once we told them JD was missing his full set of chromosomes? Would the tight hugs get a little softer and less frequent once JD’s future was revealed? According to many of the blogs and stories I had read the answer would be “yes.”

The day came to send out the email announcing James Douglas to our friends and family. We had waited long enough. I was ridiculously nervous. Not only because I was worried what people would think but once we told people Wolf-Hirschhorn would became real.

It was a Sunday night, Nate was in bed and I read the email and the first blog post over and over and over again until the words melted together. I waited to hit the send button until I could no longer keep my eyes open. After I finally hit the button I sat on the sofa waiting to feel relief or scared or nerves or something . . . then the text message on my phone dinged. While the EST and CST were snuggled in their beds the PST were doing their last checks of the Internet before heading off to bed. Darn – forgot about the west coast feed. Yet, within two minutes of sending that late night email on January 28, 2012 I received my first words of encouragement from my fabulous west coast friend Sara. That was all I needed to head to bed.

By the next morning before the world was awake I already had 20 emails waiting to give me virtual hugs. The emails, comments, calls, and love started flowing and have not stopped. I quickly realized it was preposterous of me to think I would have anything but supportive people in my life. How selfish of me not to give my friends and family enough credit to know they would not care if JD was lacking part of a chromosome. In fact, everyone seemed even more excited to meet the little man. Let’s be honest, with a second pregnancy people are happy for you but it is not as exciting as the first one (sorry 2^nd, 3^rd, 4^th, etc children but it is true – you just don’t have time to be as focused). However, JD gave the second pregnancy a boost to keep people interested (almost like a Hollywood film – see I was destined to be a film director).

All my concerns about being a lonely mom vanished. In fact, JD has opened the door to more important people in our lives then ever before. I am blessed to say I am not a lonely mom of a special needs child. I am a loved mom of two amazing little boys who has more friends today then I did on January 28, 2012.

Sidenote: Apologies for a lack of blog entries over the past month. 2013 has started off quite busy and somewhat rough . . . but JD is doing better (he was under the weather) and the snow is melting. There are lots of wonderful things to update in the upcoming months so stay tuned for more entries about JD – less fluffy stuff I promise but I needed to get one more out. 

Who could be lonely with these two faces