Month: March 2014

A Brighter Post.

Image

 

Today, I woke up determined to have a better day.  After a few days of tears, I decided it was enough and my emotions were getting a little out of hand.  Since I was a kid, I’ve always been a worrier and it seems that I continually forget that things always seem to work out. Somehow, someway, they always do.  I picked myself up and realized that we will make it.  We will get through this and we are not alone.  

Just this morning, I could hear her kicking her legs and crying out because she was hungry.  When I went to get her out, she was rolling from her back to her side and had the biggest smile.  Her excitement was certainly contagious and brought me back to Earth.  We’ve always said that we will accept, love, and be proud of Paige no matter what she able or not able to do.  Paige is Paige.  She is not a milestone checklist, a medical chart, or a diagnosis.  She is such a great joy in our lives.  She’s a the sweetest little baby who loves getting her little feet rubbed and taking baths.  She likes it when you “boop” her nose and when her brother kisses her cheeks.  

We don’t care about what she can’t do because she is an incredible gift to this family and continues to amaze us.  She is pure and absolute love, every day!  Whatever happens she will ALWAYS be special and we’ll always show her she is loved!

 

Advertisements

The Future, Feelings, and New Friends.

 IMG_4153

I’ve had a slew of emotional days this past week.  It’s been a constant battle of “what ifs”, worrying about the future, and trying to appreciate today.  Lately, I’ve just had this feeling that our lives have turned into a ticking time bomb and perhaps this is going to be as good as it gets.  Let’s face it, Lissencephaly sucks.  It’s not curable and it never really “gets better”.  In fact, it might get better for a while but eventually it will get worse.  At least, that’s what all the literature and personal stories I’ve heard from other families say.  Maybe not in those words, but you know that’s what they are saying.  I’ve been thinking a lot about the future and that is not a good place for my mind to wander…

When will seizures start?  What equipment are we going to need to make our lives easier?  When should we move into a new house?  Will I have to miss out on Will’s activities in the future?  Is he going to feel slighted?  Will he be resentful?  Will we ever get to go on vacations?  Are we going to be able to make enough memories for him?

 

…and these questions are just the tip of the iceberg.

Image

I haven’t talked a whole lot about, my two year old son, Will, a lot in this blog but I worry about how this will affect him constantly.  Luckily, this is all he ever really knows!  He probably doesn’t remember life before Paige and to him this is just his life… his childhood!  I was talking to Andrew today on his lunch break and voicing some of my concerns (he hears new ones, daily).  Today, I told him I was worried about making memories with Will.  I don’t want him to look back when he’s older and remember us being stressed or crying.  While we are going to be very honest with him about the realness of everything, I don’t want this to be his definition of our family.  Actually, I don’t want this to define our family at all!  Sure, he has a sister with disabilities, but he’ll know that she’s more than that.  She’s an undeniable, ultimate being of joy and she loves her big brother more than anything.  One day, he might see his sister have a seizure and other various health problems.  I hope it helps mold him into being a more compassionate, mindful, and helpful person.  Being different, to him, will just be normal.  For being two-and-a-half years old, he’s already very intuitive of other’s feelings and especially his sister’s.  When Paige cries, he runs and gets a pacifier.  If that doesn’t work, he strokes her head and says, “It’s ok, Sissy” and gives her the biggest kiss.  He’s tried to feed her bottles when he can tell she’s hungry and he washes her hair in the bath tub.  I can already see the love he has.  I know that one day, he’ll ask questions and I’m still trying to think about what I’m going to say to him.  Andrew is much better with words and explanations so that’s a conversation we’ll have when it’s time.  I make it a daily goal to show Will how I feel about him, make a memory or two, and give him extra hugs, kisses, and time.  He is one loved little boy!

Another saving grace is knowing that we’re not alone.  Along with our wonderful families and friends that have offered their love, support, and time, we got the privilege to meet four other families in the Pittsburgh area who have children of varying ages (7 months to 18 years!!) with Lissencephaly.  This past Sunday, all of us met in a back room at a Panera Bread and talked, advised, exchanged stories, ate, laughed, and cried (ok, I was probably  the only one who cried) and every family was different and inspiring.  Most of all, they were all GOOD people with absolutely wonderful outlooks on life and family!  I got a lot of useful information and pep talks from the two veteran moms (I will always have bad days, they won’t go away, but things WILL get better and brighter) and compared notes with the other two newbie moms.  I already knew one of the other mom’s and we’ve gotten to be really good friends so it was awesome to see her again!  There were also other men there which was good for Andrew to have people to talk to, as well. It was sooo nice to talk to people who understand what we are going through and didn’t look at us like we were a wounded animals.  Yay, for new friends!

 

No emotion lasts forever and happier days are always ahead.

 

Coughing, Boogers, EEG’s, Oh My!

The past couple weeks have been spent with two little kids kicking a cold.  It was a lot of coughing, sneezing, boogers, rashes, fevers, baby Tylenol, and more boogers.  Hopefully, we’re at the tail end of this nasty bug and it could be a little less gross around here and a lot less stressful.

IMG_4065

With Will, a cold is no big deal.  He’s easy and thankfully so.  Generally, a few doses of acetaminophen, juice, and The Wiggles equals a cure for the kid cold.  When Paige gets sick, that’s a different story.  Luckily, she really hasn’t had an illness since she’s been born.  She might have had a sniffle when she was a newborn but I don’t really count that.  Unfortunately, she also caught whatever was going around and I’d be lying if I said that we weren’t worried about it.

A huge concern for Liss babies is respiratory infections, aspiration, and choking.  If Paige has even the slightest rattling in her lungs we were advised to take her straight to the hospital.  To add to the list of frets, a fever can also bring on seizures which we are trying to avoid for as long as possible.  Well, she did get the stuffy nose which led to choking, a cough that led to throwing up, and a lot of sleepless nights, and the dreaded fever.  So, instead of juice and a DVD we camped out on the couch with a humidifier, baby Tylenol and Motrin, an inclined bassinet, saline, nasal aspirator, a cup for chest PT, and a few doctor visits to check her lungs (which were CLEAR, by the way!! ).  As of today, I think we are seeing a light at the end of the tunnel and we’re looking forward to a healthier household.

I have to say, Paige handled this past week like a champ!  She’s a tough little thing and I’m proud of her.  Aaaaand we also got another small bit of good news yesterday…

ANOTHER GOOD EEG!

As I previously said, I wasn’t sure about seizure activity because of her fevers and wonky behavior from being sick.  To be completely honest, Andrew and I didn’t have a great feeling about this follow-up.  I spoke before about possibly putting Paige on a preventative seizure med and we kind of thought that our decision probably would be made for us after her illness.

Let me just say, I hate EEG’s.  The process isn’t actually that long, but it’s a process, nonetheless, and I find it to be pretty tedious.  For children under a year old, you are supposed to keep them up a few hours later than their bed time and wake them up (and keep them up) a little earlier than usual.  Considering Paige doesn’t have a real bed time or wake up, time this really doesn’t bother me.  It’s mostly just the applying of the buttons to her head.  First, they swaddle the baby and strap her on the bed.  Then, the technician (I don’t know the proper name) measures and marks her head to help show where the buttons will be placed.  The buttons are secured, one by one, with gauze dipped in a solution and then applied all around her head and one on her chest.  An air brush tool is used to dry the solution to make sure they stay in place and don’t move at all.  Once they are dried, a conducting lotion is injected into the buttons and the EEG is set to start.  This process didn’t hurt Paige and it only took maaayyybe a half an hour but it was uncomfortable and she wailed almost the whole time.

IMG_4088

Once the EEG starts the technician does a series of tests to see how Paige’s brain reacts to them.  The first test was simple and easy.  He placed his thumbs over Paige’s eyes and held them shut for ten seconds for a total of 4 times.  The second test was the dreaded light test.  I’m actually getting used to it but I still hate it.  A bright light is placed about 4 inches from her face and it flashes for about ten seconds at a time.  This is repeated about 10 times with a goal to induce a seizure.  And finally, after all of the tests, the babies are encouraged to sleep!  The whole reason why we had to keep her up.  Sleep is encouraged because there are very distinct brain patterns for the different stages of sleep and actually gets the best reading of seizure activity.  Luckily, Paige zonked right out and slept for most of the hour.

We had an appointment directly after her EEG with the Neurologist and Epileptologist to find out her results.  I have to say, I’m very pleased with the team of doctors in Pittsburgh!  So far, they have been extremely respectful of my decisions, answered all of my questions without being condescending, and have been very playful with Paige, which I really appreciate.  After her quick checkup, I was told that Paige’s EEG looks really good and still advise to hold off on medication.

While I gave a big fist pump in the air, I did have questions.  I was honest and just came out with it:

I’m afraid of seizures.  I am!  I honestly don’t know how I’m going to react when they happen.

What are we going to do when they happen?!  

Well, the answer to this is, we’ll just deal with it.  They won’t be as scary as I envision in my head.  The doctor did something that was probably out of the norm but helped me a lot.  He acted out the different types of seizures to look out for.  Even though he seemed a little embarrassed, he eased my mind more than he could ever know.  Some were just dropping of the head.  Some were stiff arms and twitches.  Others included a limp side of the face with drool.  He informed me that she would make them known and I could call him at any time with questions.  Since Paige is obviously happy and playful, he assured me that this was a good sign she was not having any seizures.

But can’t I just put her on meds to prevent them?!

The answer is, I can do whatever I feel comfortable with, however, they still advise against it.  I had every intention of leaving that appointment with a prescription but feel a lot more comfortable with their reasoning.  The reason is because she’s not having them, they won’t really know what they’re treating.  There’s many different types of seizures and different cocktails that could be made specifically for what is going on.  Seizure medication also has side effects and they aren’t always pleasant.  The early years are extremely pivotal for development and the longer we can go without them, the better.  Since she is making strides in her development and there is a 100% chance of seizures happening in her future, we’re basically just biding as much time as possible.  Andrew and I have made the decision that if we had the choice of quality of life and quantity, we’d choose quality first – and I feel like this is what we’re doing.

As far as what to do with her, we are to continue with therapies and keep her healthy.  This past week has been trying, but we made it through.  And now, I need a drink!

Boston Trip Recap

IMG_3996 IMG_4013 IMG_4009 IMG_3999

Aaaahhh, it’s nice to be back on my couch!  We just got home from our trip and it was productive, exhausting, and we even had some fun!  It was, actually, a pretty painless trip all-around.   Monday morning we were out of our house at 6:30am and were in our hotel exactly 5 hours later.  No hold-ups, no problems, nothing!  It was amazing and we had a whole day to explore, eat, and relax.  Unfortunately, it was 9 degrees out and windy as H-e-double hockey sticks so that limited most of the exploring part out for the day.  Let it be known though, had it been warmer out, we would’ve been all over that city and we’ll definitely be back for leisure at some point!  I won’t bore with details of the hotel set-up (it was a Best Western) and our fabulous dinner (Andrew had trout and I had crab cakes) so I’ll get to the point of the trip.

Tuesday we had appointments with a neurologist and a genetics counselor, both of whom have extensive experience in treating Lissencephaly.  We sent all of Paige’s records and scans to Boston Children’s and a whole team of doctors from neurology, genetics, and radiology reviewed them before we got there and compiled a report.  I’ll break down the appointments separately but I want to make a point that we didn’t go into these appointments blindly.  We know that Paige’s case is severe and we already knew what we can expect for her future.  We also knew that we wouldn’t hear any miraculous news that she’d be cured and the doctors in Pittsburgh had it wrong.  We wanted to know from an expert that the course of action with therapies and seizure control are correct and if there was anything else that we could educate ourselves more.  We were also encouraged to go from our local doctors because, while they are absolutely wonderful, they simply don’t have that much experience with Liss.  In fact, one neurologist said that she’s been practicing for 25 years and has only seen a few cases.  We just wanted confirmation.

The neurologist at Boston Children’s was incredibly personable and kind.  She knew that we traveled for the appointment and was clear and concise the entire hour we were with her.  We heard what we knew what true:  Paige has Classic Lissencephaly – Type 1.  Her whole brain is smooth aside from a small portion in the front.  Even though there are definite brain folds they were still abnormal.  Again, we can expect her to never walk, talk, or take care of herself, and she will eventually have uncontrollable seizures.  Also, due to her brain abnormality, she’ll most likely go through early puberty.  We definitely knew this, but it’s never fun to have to hear it again and again. One thing that the neurologist did say is that Paige will be the one to decide what she will and will not do.  With extensive therapies, Paige could very well learn to communicate using nonverbal language, sit up, move around, use her hands, etc.  Doctors are surprised every day and she said that she was pleasantly surprised that Paige was so vocal and interested in her surroundings.

As we know, seizures are a huge concern we have for Paige.  We know that they are imminent but they are treatable right now.  Since Paige has been off of her ACTHar steroid we have not seen any signs of seizures or spasms (thank God!) but since we know they’re bound to happen we are tossing around the idea of putting her on a preemptive anti-convulsive.  We are definitely not medicating for the sake of it being available but the reasoning is simple:  seizures can be incredibly damaging to the brain and even fatal.  They can wipe out any progress she has made in her 8 short months and render her nearly motionless.  They can trigger respiratory issues which cause other issues.. (you get it).

Our doctors in Pittsburgh and I originally agreed that we would wait to see what her seizures looked like before we put her on a medication.  There are so many types and medicines that it really would be effective if they could match the right one to the type of seizure.  However, the more Andrew and I thought about it, the more we’re not sure if we want to wait.  What if a massive seizure strikes and she never smiles again?  Or she stops cooing?  Or <insert rational/irrational concern>?  These are the things that keep us going and would be devastated if she lost those!!  Paige has a follow-up EEG this month and the neurologist agreed to wait for that to make a reccomendation.  There really is no right or wrong way to go about it.

Next was the genetics appointment.  We didn’t exactly know how worthwhile this appointment would be because we still don’t have our blood work results back from the lab in Chicago and they probably won’t be back until April.  We made our Boston appointments shortly after the diagnosis and hadn’t had a genetics appointment yet.  It is also kind of a “package deal” when you’re going to see this team and we’ll take all of the information we can get. The results of the gene panel really hold the key to what we want to know:  How will this affect our future family planning?  In my last post I mentioned several ways it could.

As we already knew, the genetics counselor couldn’t tell us 100% sure until she had the results (and even then it’s still not 100%) but the radiologist, neurologist, and she agreed that all of the evidence made it appear to just be a random gene deletion.  A freak genetic accident, if you will.  If this is the case, there is a less than 1% chance of this happening again and we can feel confident in adding healthy children to our family.  It was absolutely great to hear, but I’m not getting excited until that panel comes back.  Even then I’m not sure how I’m going to feel – I don’t like odds very much…

That pretty much concluded both appointments.  We really went in there for confirmation that we were proceeding with the correct forms of treatment and therapy, and left assured that we were. It was worth the trip to hear the information and their additional recommendations and now we have connections with two of the most incredible hospital systems in the country.

That. Is. It.    

Unless you want to know what we did for dinner in Boston.  In that case, I’ll tell you.  We went to luxurious Applebees after picking up diapers at Target.  Some things never change!

 I wish I would’ve taken more pictures but my iPhone doubled as a GPS, record book, and pretty much held all of the information I needed…

Boston Bound!

Tomorrow, we will venture off to Boston for a special trip to Boston Children’s to meet with some Lissencephaly specialists.  The number of doctors who specialize in this are literally in the single digits! We started planning this trip pretty directly after we got the diagnosis (huge thanks to Aunt Meredith’s research) and included sending almost every bit of medical information Paige has, countless emails and confirmations with the people at Boston Children’s, and a lot of help and support from the doctors in Pittsburgh.  So far, the planning has gone pretty smoothly with a pending snowstorm being the only snafu.  However, even that looks like it might not be as bad as originally anticipated. (I hope I’m not speaking too soon!)   

We are scheduled to have two appointments on Tuesday afternoon.  One will be with a renowned expert in Lissencephaly and the other will be with a geneticist.  The first doctor will thoroughly go over Paige’s brain scan with us and basically just give us more information and resources.  The geneticist will talk with us about the possible whys and hows of Liss.  From what we understand, there are several reasons how Liss can occur.

1.  Both Andrew and I are carriers for a particular gene that would cause the brain anomaly.  If this is the case, there would be a 1/4 chance of this happening again with any other biological children.  This is the case I’m fearing the most, as we both come from large families and planned on having a big family ourselves.  A 25% chance might be too big of a chance for future family planning and it would absolutely devastate me if this is the case.

2.  Another reason could be due to an infection, particularly Cytomegalovirus (CMV), that I could have contracted around the 12th – 17th week in pregnancy.  When we met with our neurologist in Pittsburgh, she said that she didn’t see any indication of infection in Paige’s MRI report but couldn’t completely rule that out for sure.  I had terrible morning sickness throughout my first trimester and half of my second so it could’ve very well had a virus but I’m not going to speculate that until we know for sure.  This would be more of a medical reason and not-so-much a genetic reason so the odds of it happening again are slim.

and

3.  A random deletion of a gene.  Basically, a genetic freak accident.  A fluke.  There is no real science behind it and it’s just something that happened.  If this is the case, there is less than a 1% chance of happening again  It sounds like it’s the best case scenario but when you consider the odds of having a child with Liss is already slim (1 in every 100,000 babies) it doesn’t really say much.

We are still waiting the results of Paige’s blood work to know the cause for sure but it still might be another month or two.  

Sooo.  We don’t have her genetics results and Lissencephaly isn’t even curable so why even go?  For information, support, and details!  We figured, we already got the worst information and anything else we can learn would be helpful.  The doctors in Pittsburgh have been incredible with providing us with everything we need but are completely supportive of the Boston trip.  Paige’s neurologist actually gave me EXTRA reports from her EEG’s to show the neurologists at Boston Children’s.  (I thought that was super nice of him to take the time to do that!)

We leave not-so-bright but VERY early in the morning tomorrow and hopefully get some exploring done.  Big thanks to Andrew’s family for all of their help with everything – especially watching WIll, my sister for sticking around with him tomorrow morning so the transition will go smoothly (she was in town for The Avett Brothers concert – SO fun!), my family for being backup caretakers and being there for support, and my local friends for offering their homes as backup backups if we need anything!

I’ll update when we return!