diagnosis

Welcome, Jay Thomas!!

imageI’m back to blogging!  It’s been a while and thought I’d introduce our new addition!  Jay Thomas Barbour was born on Tuesday, January 12th at 1:36am just moments before a snowstorm in Pittsburgh.  Our big guy weighed 8 pounds even and measured 21 inches long.  He was my largest baby and quickest labor – only FOUR hours!!  He has the biggest eyes and hands and is as sweet as can be!

Because I’m so far behind, he is currently 10 weeks, almost 14 pounds, and 24 1/2 inches long!  His doctor told me our Jaybird, as we call him, is as big as a four month old!

I still wake up in the morning and find it hard to believe we have three children now!  It’s a busy, a bit like herding cats, but it’s been incredibly fun.  I’ve been meaning to update sooner, but by the time I sit down after dinner I’m just about zonked out for the night and I wanted to give a thorough(ish) update.

Jay is two months old now, and it was around this time we noticed Paige wasn’t meeting certain milestones.  Of course, babies develop at different times, but we knew her vision wasn’t what it should be.  As you can imagine, I’m a little hypersensitive about development after what we’ve been through with Paige.  I’m happy to report that Jay is currently right on track and reminds me a lot of our Will as a baby.

It’s honestly very thrilling with a little bittersweetness mixed in to watch him grow.  The first smile, batting at toys, cooing, putting pressure on legs, and grasping items have been so exciting to watch.  I cry all the time when I see Jay doing these things.  At the same time, I’m reminded of the anxiety and worry I felt when Paige wasn’t doing this and it makes me sad because this was the start of our journey to a diagnosis.  I remember how I felt during that time and I look at her now and I’m so proud.  So. Incredibly. Proud.

I’m not going to lie, adding another baby after one with special needs has been difficult, mentally and emotionally.  I’m working on not analyzing Jay like I did with Paige and I’m constantly reminding myself that I don’t need to advocate for him like I did with her.  My husband hit the nail on the head when he said we didn’t grow our family to worry and fuss over what could happen.. we did it because we want a big family and we have love to go around.  It’s been a wave of emotions and it’s scary to let my guard down, but it is truly necessary in order to be the best parent to my three little monkeys!

I’m told it’s a different experience raising other children after having one with special needs.  I was warned it would be a lot of watching, a lot of analyzing, and a lot of mixed emotions.  So far, those sentiments couldn’t be further from the truth.  It IS a lot of all of those things, but once I allow myself the grace of knowing it’s “normal” (I hate that word) then I allow myself to feel joy and present.  I’m embarrassed to admit that I sort of “quiz” Jay on these things and I have to stop myself. With Will, I didn’t really know to look for these things, with Paige, I had to, and with Jay, I know too much.  I have to stop myself from the knowing too much and find a nice middle ground… and I’m working on that.  

Along with the watching and list checking, I was told that the highs would be so much higher and the sweet would be SO much sweeter.  Again, I find that to also be true.  When this little baby looks me in the eye and smiles, I light up.  When I get a little chuckle, it’s heaven.  Even when I hear him cry, I know he needs something and I’m happy to be right there.  

As for the other munchkins, they’ve adjusted amazingly.  It took a few days, but we’re in a good place.  Will was a little emotional and Paige had a few sleepless nights but they caught onto the new lifestyle pretty quickly.  The night we took Jay home from the hospital Will asked if we could bring him back to “his other house” but once he realized his little bro was here to stay he was fine.

Will is currently in preschool and is growing like a weed.  He is starting t-ball soon and he’s really excited about that.  Daddy has also taught him how to play Mario Kart on the Wii U and he recently finished 11/12 in a fierce race.  Haha!

Paige has recently taken a break from Conductive Ed but will be returning next month.  She is becoming more vocal and her expressive language is improving!   She uses an “eh” sound in different pitches and we’ve figured out what they mean.  She responds to “hi” and gets particularly excited when she hears the theme song to certain television shows.  Her seizures have been pretty controlled with an occasional spell here and there.  Another thing about Paige.. she is getting TALL!  I constantly have to get her wheelchair adjusted and her clothes are getting too short around her middle.  It’s particularly noticeable when she is in a standing position or in the bathtub.

 

 

Oh!  And Will, Paige, and Jay have a new cousin!  Benjamin Todd Walters was born in December 22nd!  Exactly 3 weeks before Jay!  They all met A few weeks ago and it was precious!

 

 

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Getting Here. The Road to Diagnosis.

I just got a really positive message from somebody stumbling across the blog who is going through exactly what my family went through two months ago.  This person has a close family member that was just diagnosed with Lissencephaly and they were scouring the Internet looking.. searching.. HOPING for something to grasp onto that might hold an ounce of positivity to it.  Instead of getting a few words of information that would make them feel any better they probably found out (and very quickly) that Google is the devil.  They probably found the Wikipedia page which was the absolute WORST and were puddles on the floor when they got to the words after “life expectancy”.  We’ve been there.  We’re GOING through it.  It sucks… and my heart is with them.

One thing she said she’d like to read is our journey to getting the diagnosis.  I haven’t even relayed that on the blog and that’s a huge part of the puzzle!  How did I miss that?!  Well, I’ll start from the top because I feel it’s all worth sharing so, here goes!

June 6th, 2013.  I was 37 weeks pregnant and I went in for my weekly checkup with my OB.  My fundal height (baby bump) was measuring a bit smaller than she’d like so she asked if I would go for an Ultrasound to check if my amniotic fluid was low.  She assured me it was probably nothing and if I wanted, I could make the appointment after the weekend.  I’m not one for waiting and I’m a huge worrier by nature, so I made the appointment the next day.

To make a long story a little bit shorter, the Ultrasound didn’t go that great.  The baby appeared to be pretty healthy but was very small, particularly her head.  Because I was 37 weeks pregnant, and technically full term, I was sent to be induced that day.  When the tech called the doctor, they suspected that the placenta was working too hard and was going to eventually stop if the baby wasn’t delivered.

My induction was great.  I’d say pretty perfect, if you asked me!  I got an epidural, didn’t need an ounce of Pitocin, and delivered 6 hours later.  I pushed for a grand total of 3 minutes and I couldn’t have been happier.  A beautiful Paige Marie was born around 10:3-pm weighing 6 pounds and 4 ounces and was 19 3/4″ long!  The NICU nurse (who happens to be one of my closest friends) was there to measure and take care of her vitals.  It wasn’t long after where we heard that she was PERFECTLY HEALTHY!  We were elated and quickly got accustomed to being a new family of 4!

This past summer was awesome.  There is no other way to describe it.  It was absolutely joyous and we were so in love with our soon-to-be two year old boy and our new and beautiful baby girl.  I felt so incredibly blessed and was so thankful over having a great newborn.  She was a super eater and a wonderful sleeper and it made adjusting to having two kids so much easier.  We felt like we hit the jackpot!

It wasn’t until her 2 month check up until we noticed something was “off”.  Paige wasn’t tracking and her pediatrician suggested we see a Pediatric Opthemologist to check for any vision issues.  From that day, something in me just “clicked” and I KNEW something was wrong.  I felt it in my gut and it was the most nagging feeling in the world.

We saw the Opthemologist about a month later.  She did a pretty thorough exam and said that Paige had a small amount of Nystagmus (wiggly eye) but she should grow out of it.  She tracked the light for the doctor and passed her eye exam!  But things were still off.  Paige didn’t really smile, was extremely passive, and didn’t really cry a lot.  She grunted a lot, but didn’t really wail like newborns do.  She didn’t reach or roll over and didn’t show signs of doing it any time in the near future.  The nagging feeling was still there…

Within the next month Paige did make small steps in her development, but not enough to ease my fears.  She did make eye contact, she started smiling, laughed a few times, and started crying a little more.  At her 4 month appointment her pediatrician said she was absolutely perfect and healthy and that I should consider myself lucky for having two healthy children because some people aren’t so lucky – a comment that still haunts me to this day, by the way.  The doctor also advised that I cancel Paige’s follow up eye appointment the following month.

Well, I didn’t cancel because that nagging feeling I was worried about wasn’t getting any better.  To be exact, it got worse.  Bad to the point where I thought that maybe I was obsessing over her health too much and sought help for Postpartum Depression.  I didn’t really think that I had PPD but I didn’t know what else it could be.  I was so convinced that something was wrong with my baby but I had several doctors telling me everything was okay!  It HAD to be me!  I could go on about this, but I’ll save it for another post…

*Deep Breath*  Okay, where was I?  Uhhh, the next eye appointment!

So, the next eye appointment was the start of getting some answers.  Paige was 5 months old at this point and still not rolling, not reaching, not exploring, and not doing a lot of other things babies of that age do.  The Opthemologist did another full exam and this time Paige did not track very well.  We noticed that Paige could track objects and people from far away but once they got up close she would lose them.  The anatomy of her eyes looked perfect but things weren’t quite adding up.  I left the appointment with some fears confirmed and a prescription for a brain MRI…

I’m having trouble writing about late December and on because it was extremely emotional and hard.  Her MRI was on Friday, December 20th and we had a weekend to stew about the news we would hear.  Optimistically, I thought it was just a vision problem.  Or a pediatric stroke.  Or Autism.  I stayed away from the Internet and prayed for good news.  I started to BELIEVE I would get good new.  But we didn’t.

December 23, 2014 was one of the hardest days of my life.  It was the day before Christmas Eve and we had plans to travel to Central PA to spend the holiday with my family.  We were also waiting for the results and IT. WAS. EXCRUCIATING!!!  I called the Opthemologist’s office several times waiting for the doctor to get in and they said she wouldn’t be in until after 1pm.  My husband called after me and convinced the doctor to call from her cell phone earlier.  At 10 am, I got a call from a nervous doctor telling me…

“There is an anomaly in Paige’s brain.  The brain should have ridges but her’s is smooth.  It’s called Lissencephaly Type 1 but I don’t see anything acute.  It’s a wide spectrum.”

My head spun.  WHAT did I just HEAR?!  I had so many people to explain this to!  I had to call my husband!  Tell our families!  While I was calling Andrew I did a Google search and I could’ve died!  I go from thinking she has a vision problem to learning she’ll never be able to walk, talk, and possibly not survive after age two.  Utter devastation ensued.

Side note:  Don’t ever tell someone going through a hard time that “You can’t even imagine…”  because we can’t either.  We’re living through it and those words are like daggers.  However you think you would react is probably how you would react.

However, all the while I held onto the not acute part of the conversation and found hope for a somewhat normal future for Paige.  That was also quickly diminished when we went to her first neurology appointment and we found out that it was, in fact, a severe form.

And that’s where my blog starts… after the diagnosis.  The dealing, the accepting, the grieving.  It’s all here.  If anyone reading this is out searching for something positive, like we did, please take this from us..

(Disclaimer:  we’re still newbies at this whole living with Liss thing so our ‘advice’ and ‘input’ will probably be ever changing and this is a reflection of our experience.)

Upon diagnosis, you will be devastated.  You will feel the darkest and most helpless you have ever felt in your entire life.  You’re heart breaks in a million pieces for your child’s life, your life, and the lives of the rest of your family.  You will play every single scenario and outcome from the good and the bad through your head.  You will grieve the loss of the child you thought you had and really start to get to know the child you have.  The journey to acceptance will be a roller coaster.  You will have good days and bad days, and days spent in bed.  You’ll force yourself you get up because you will have no choice.  Life goes on.  People need you and you can’t quit even if you want to.  You’ll have weak moments but slowly, you’ll find yourself enjoying things again.  You’ll laugh and joke.  You’ll begin to find joy again.  Of course, things will still feel heavy, but you will carry on and do it for your child and simply because being sad all of the time is exhausting.  You will find that people will be there to help and lighten the load.  You start to live again and it does get better.  Not all days are easy, but please know, that it does get easier.

If you need some resources to turn to, like I did, I would recommend social networking.  Facebook groups have been a huge blessing for me. I joined the Lissencephaly Network and The Lissencephaly Loop and it’s great to have so, so many others on there for support, stories, and even HOPE!  I actually have found a woman from the Liss Network who has a son around the same age as Paige that lives in the same city as I do!  We’ve become very good friends and she has been one of my biggest support systems throughout this journey and we talk/text almost daily!  You wouldn’t believe how therapeutic it is to be able to really TALK to someone without having to worry about judgement or the “sad eyes” from people.  I’m very thankful for these resources and would highly recommend them!

And here concludes our lives before Lissencephaly.  I have to say, besides more doctor’s appointments, therapies, and testing, life is actually pretty normal.  It’s OUR normal and we’re going to go with it.  Paige is our little angel and we love her.. just the way she is!

NO MORE STEROIDS!

A big fist pump to the air was given yesterday after I gave Paige her last steroid injection!  She was an absolute trooper throughout all of them the past four weeks and we’re so thankful that it did it’s job.  Paige is still not exhibiting any infantile spasms and that is still a huge thing to be positive about.  She’s also back to the happy baby we knew and it’s such a relief.  

The first two weeks during her course consisted of a high dose of the steroid (ACTHar) in her thighs twice a day.  With every dose she was given vitamin B6 and Zantac for acid reflux.  During this time, she was a completely different baby.  Her bright eyes became heavy, she never smiled, and she just looked miserable.  You can tell it totally wiped her out and made her pretty zombie-ish.  It was heartbreaking.  Even though we were told that it was temporary, we still feared that it wouldn’t be and we missed our happy little snuggler pretty quickly.  She also ate like a horse and gained about four pounds in these two weeks!  Yikes!

The third week started the weaning process with only one injection a day at a lower dose.  Pretty easy right?!  Well, this was actually the most miserable and exhausting week. Sleep didn’t happen and Paige was up every hour and was at her most ravenous and was very fussy – we called this her ‘roid rage.  She was still pretty miserable and didn’t want to be moved around a lot.  The notes from her therapists said that she was: not alert, not engaged, not totally responsive, and rigid.  Our saving grace was actually a pacifier, that we dug up in her sock drawer, and it provided a lot of comfort to her and a lot of sanity for all of us!

And then HOORAY! The last and final week!  This past week, Paige only received a low dose every other day with yesterday being the final day.  I’m not exaggerating when I say that her personality changed almost over night early in the week.  Andrew was getting ready for work on Monday and I was making coffee (or something) when he called me over and yelled, “She’s SMILING!”.  

IT. WAS. AWESOME!  

Andrew and Paige always have had a special bond and it was really touching to see how excited she was when her daddy was talking to her.  She was just sooo smiley and alert!!  She hammed it up for her therapists and the adjectives in their notes turned to: active, engaged, pleasant, and feisty.  DEFINITELY easier to read than the previous week’s notes from them.  Her sleep even got back to normal and she was back to snoozing through the night!  Paige also seemed to be stronger and also rolled over from tummy to back with very little assistance. This was HUGE and we let ourselves be happy about this.  Celebrating the good times is definitely more fun then worrying and fretting.

Buuuutttt, it happens…

As a family, I’d say we’re doing pretty well considering it’s only been a month and a half since diagnosis.  However, since appointments and hospital visits have been slowing down I’ve had some more time to think and I’ve had some pretty bad days.  For so long, we’ve tried to look on the bright side and keep the negative thoughts at the back of our minds but this past week I couldn’t handle it anymore and I let it out.  

I let myself feel.  Whatever emotion I had, I let it out.  To be honest, I’m not proud about a lot of the things that came out of my mouth or in my head.  I can’t tell you how many times I screamed “IT’S NOT FAIR!” and asked myself “why MY baby?”.  I felt sorry for myself because I tried to do everything right during my pregnancy and my baby has a terrible diagnosis while some women do drugs during theirs and have completely healthy kids.  I know it’s not right, but I’m being honest and it’s how I felt at the time.  Why any baby, really?  Why any family?  Acceptance with the diagnosis comes in waves and it’s been a struggle.  I’ve always accepted Paige but I’m having trouble with the “why”.  While I can go about my day and have genuinely happy moments, there is a constant heaviness in my heart that won’t go away.  I’m not sure it ever will.  I’m hoping and praying I get to a point where acceptance isn’t such a struggle and our “new normal” becomes more natural.  

Thankfully, Andrew doesn’t really let myself feel this way for too long.  He has been such a beacon of strength for me (and everyone, really) during this time and encourages me to snap out of it.  While I have been pretty faith-based and look above for guidance, Andrew turns to science and medicine for answers.  In that way, I think we balance each other and it’s how we keep each other grounded, hopeful, and strong.  I think I definitely needed to cry it out, but after a while it’s not productive and it certainly isn’t good for Will to see in a puddle of my own tears for days on end.  We are very mindful that this whole situation affects him and we want every transition to go as smoothly as possible for our family. 

If there’s anything I’ve learned, it’s that we must live in the now.  Right now, we are okay.  Right now, we have a lot to be thankful for.  And that makes me feel so much better.

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A Post from Andrew (aka Daddy)

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If my memory serves me correctly, I believe I’ve cried a total of 3 times over the last 15-20 years. The first was when I attended a funeral for a co-worker of mine that I was close with in May of 2004. The second time was in October 2007, when I went to see my dying Uncle in the hospital, who only had a few hours to live. The third, and most recent occurrence, was December 30th, 2013 at a UPMC satellite office a few miles south of Pittsburgh. A week prior to this, my daughter Paige had been diagnosed with an extremely rare brain development disorder called lissencephaly, which literally means “smooth brain” (but we were not aware, at that point, of the extent of the condition). It’s a genetic disorder that causes a gene to mutate in utero at approximately the 12th week of pregnancy, which results in a lack of brain folds that lead to normal neurological development. Without boring you with all the minor details, it is unlikely we will be able to determine exactly why this gene mutated in the first place, but at this point, it really doesn’t matter.  We obviously did a lot of research during the week we had before the actual neurology appointment on December 30th, but I don’t think any level of preparation could have prepared us for the news we were delivered by our neurologist that day.

During the appointment with our neurologist on the 30th, we learned Paige has a “severe” form of this disorder and that we should expect her to never walk, talk or function like a normal human being in general. She will likely deal with seizure or seizure-like symptoms for the rest of her life, and they can become more and more severe to the point of being fatal. There are lists a mile long of other side effects and issues that can arise in children diagnosed with this disorder, but to make a long story short, there wasn’t a shred of good news that came out of this appointment. I had prepared myself to hear bad news, but as I mentioned earlier, nothing could have prepared me for the “level” of bad news that we received that day. Suffice to say, December 30th, 2013 was far and away the worst day of my life.

We were fortunate to have my sister Meredith with us that day, who is about to graduate from medical school and helped us prepare a list of questions we needed to ask to get some clarity on this particular condition. She has been a wonderful advocate for us from the second we learned of this news, and I will always be thankful to her for being present with us on what ended up being a very, very difficult day.

The rest of the day was kind of a blur. Steph and I cried at the doctor’s office, and then basically spent the rest of the day at home crying and consoling each other. I think the hardest part for me, at the time, was seeing all these Christmas presents she had received, and realizing it’s very likely she’ll never be able to play with them. I hate to be dramatic, but it was almost like losing a child. The Paige we thought we had for the first 6 months of her life no longer existed. People have asked me what this day was like for Steph and I, and the best word I’ve been able to come up with is “devastating.”

Before I go any further, let me be clear about a couple things:

1) I am not ashamed about any of this. If anything, I think this situation will bring my entire family even closer than we already are. I love my daughter for who she is, and will cherish absolutely every second I have with her. And I don’t care at all about what she will or won’t be able to do one day. Steph and I have made it our life’s purpose to ensure that she gets all the therapy and treatment her little body can handle to ensure she has as fulfilling a life as possible. However, it is very difficult to keep all the negative thoughts about what could potentially happen out of my head. I have days where I break down when I realize the reality and the magnitude of this situation. But Steph and I are focused on what we can do to help Paige; not all the negatives that can arise as a result of a lissencephaly diagnosis.

2) I’m not writing this for pity. I don’t want anybody to feel sorry for me or my family. We’re not the first couple that’s ever dealt with a sick child before. We’ve spent a lot of time in Children’s Hospital over the past month, including time on the transplant wing (because that’s the only area they had space when my daughter needed to be admitted for a seizure issue). I think this really put things in perspective for me, as some of these kids are fighting for their lives on a daily basis. They and their accompanying parent/guardian are, in some cases, thousands of miles away from home and haven’t seen their families in months. Fortunately for us, Paige does not currently exhibit any of the major, and potentially fatal, side effects/issues normally associated with lissencephaly. And we live 20 minutes away from arguably the best children’s hospital in the world.

I guess the scariest part of this whole situation is all of the “unknowns.” There is a very wide spectrum of outcomes for children diagnosed with this disorder. Some kids, with less severe forms of liss (which I’m going to call it for short from now on), will achieve relatively normal levels of intelligence and physical development. Other children with more severe forms (like we were told my daughter has) will never be able to walk, talk, eat on their own or generally take care of themselves. Massive seizures can strike out of nowhere. A common cold can result in an extended hospital stay, or even death, due to respiratory issues that can arise with liss. And these things could happen tomorrow. Or 5 years down the road. Or an hour from now. We just don’t know, which is the scariest, and most unsettling part, of all of this.

I’ve never been much of a writer before, but in dealing with this tidal wave of emotions, thought it might be almost therapeutic for me to jot down my experience/thoughts/emotions with this particular issue. Ultimately, Steph and I are hopeful that Paige’s and our experience with liss will help another family/child dealing with this same issue at some point in the future. If there’s anything our doctors can derive from Paige that will help another child and their family, then we absolutely want to make that happen.

Given the events of the last 4 weeks, I think Steph and I are in as good of a place mentally as we can be with this. “Super-Mom,” as I like to call her, already has 3 different therapists (visual, occupational, and physical), coming to our house once a week for an hour each to work with Paige and accelerate her development as much as her brain will let her. We have doctors appointments scheduled months in advance, and are in the process of going to see a practice at Harvard’s medical school, who are one of the few “experts” in liss related treatment. We’ve been more than proactive in dealing with the other side effects of liss that Paige has been experiencing, and fortunately, think we’re in a pretty good place at the moment. And most importantly, her 2 year old (perfectly healthy, wild, and rambunctious) big brother absolutely adores her, and I know will do anything for her once he’s a little older and better understands the situation. We also have all the family support anyone could ask for.

Again, I don’t expect anyone to feel sorry for us. We are lucky to have Paige, and to be perfectly honest, things could certainly be a lot worse. While this is absolutely a life changing event, it’s not going to make our lives any worse. It may make them different, but not worse. Stephanie, Will, myself and our extended families will spend every waking moment ensuring that Paige has a rich and fulfilling life, regardless of what her limitations may be. And I’m optimistic that I can offer hope to a family reading this in the future, who may find themselves in a similar situation as Stephanie and I do today.

-Andrew Barbour 1/27/2014