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!

Advertisements

3 comments

  1. Thank you so much for this. We are a little over a week into my niece’s diagnosis and still reeling. I cry every day. Her neuro would not give us a “grade” or severity of the LISS and has only concretely said to “expect significant developmental delays.” Next up is trying to get her current spasms under control (she started steroids but they haven’t helped yet) and doing genetic testing to determine what gene mutation caused the LISS. Then maybe we will get a more concrete prognosis. I hurt so much for my brother and his wife and I love that little baby so much. I can’t tell you how helpful it is to read YOUR story. I know we all are eager to get back to normal. A new normal, but still normal. Again, thank you for telling your story!

    1. We’re still waiting to hear about our gene mutation too! It’s been about a month since Paige had her blood drawn so it could be another 2 before we hear.

      It could take up to 2 weeks for steroids to work so don’t get discouraged yet.

      You can also join the Facebook groups. They’ve been pretty helpful!

      Thanks for reading!!

      1. I would like to add my appreciation too. I am krishua77’s Dad and little Emma’s Papa. It is difficult that I cannot go over and make everything just fine. My son and his wife tried so hard to have a baby and it is devastating they are going through this. But she is our little Sweet Pea and love her no matter what and for whatever time she is here. And for that I am grateful. She is such a blessing. Thank you.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s