Pittsburgh

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!

 

 

Advertisements

Seizure Shenganigans!!

Well, I’ll start off by saying that seizures suck.  I haven’t posted in a while (surprise, surprise) but since my last one we’ve had a few jaunts in the ER due to seizure activity and illness.  In the life of Lissencephaly seizures are almost always present and our situation is no exception.

A few months ago, Paige started a low dose of Keppra after a breakthrough seizure (I’ll get to this in a minute).  Thankfully, there have been no harmful side effects like irritability, mood swings, lethargy, and rage.  In fact, I’d say we have only noticed positive changes in her demeanor since starting.  She’s more alert, cognitive, and has a wider range of emotions.  Sure, she might wail and cry with a little more gusto than before, but on the flip she’s been giggling and laughing with vigor, as well.

Since she’s approaching two years old, I’ve been warned by her neurologist that since she’s growing bigger and more faster we might have to adjust her dosage more frequently.  It really depends on the frequency and amount of breakthrough seizures she’s having.  Coupled with an EEG we might come to find that we need to change or add a completely different medication to fit her type of seizure(s).

The past couple of months I would definitely say we’ve seen a “breakthrough” seizure.  So far, I’ve seen 2 and they’ve been pretty nasty.  The first one happened right before vision therapy and and she was in her Special Tomato chair.  Suddenly, she doubled over and got really rigid.  Her breathing became labored and she grunted and drooled.  Her left arm was raised and trembling.  Most likely, this was a tonic seizure and it clustered on an off for about 25 minutes.  That’s a REALLY long time!!!

During this time I took a video of the activity and called Andrew to come home from work.  We made it to the hospital and was hooked up for a one hour EEG.  Paige didn’t preform for the neurologists and she was stable the entire time.  However, based on the severity of her cluster, Keppra was prescribed.

I’ve honestly really relieved she’s on medication.  Aside from her ACTH, she’s been able to dodge any type of seizure activity and medication for over a year and a half.  It’s a nice security blanket to have and I feel better with the extra help.

Fast forward a few weeks and we have a young Will with a fever and a cold.  His fever was treated with ONE dose of Tylenol and lasted half a day.  A few days later Paige comes down with the same thing and I was hopeful it would be mild like her brother’s.  WRONG!  Paige started throwing up and the next few days were spent trying to get her to eat and drink.  She was limp and her fever was high so I rushed her to CHP where she received 3 bags of fluids, oxygen, and IV antibiotics for a night.  She was incredibly sick and it was so hard to watch.  What’s kind of crazy is that fevers and illness often set off seizures and she had absolutely NONE throughout the whole ordeal.  After a few days of rest she was back to her old self!

And now we come to this past Monday.  This story is going to look a lot like the first because it was during vision therapy (again) and it happened in the Special Tomato chair (again) and it lasted for about 15-20 minutes (you got it.. again).  When she came to she was perfectly pleasant and happy as a clam.  Can you say roller coaster of emotions?!

Off we go to the hospital but this time I refused an EEG because I knew she wouldn’t preform and it would be pointless.  Since she has a seizure disorder and they are going to happen I requested rescue medicine.  I can’t go to the ER every time she has activity so I’m glad to have these around.  She was prescribed Diastat and Kolonopin.

Diastat is pretty hardcore and I have to call the paramedics to monitor her when I administer it.  This will also mean another hospital stay because this drug is essentially Valium and can labor breathing and slow her system down to dangerous levels.  This drug will also knock her out for a day.  I also requested Kolonopin because it is less intense and instead of being out of it for a day, she’ll most likely only sleep for a few hours.  I feel a lot more comfortable with this drug but still hope I don’t have to use it.  Both of these drugs have to be given if her seizure lasts more than 5 minutes and since both of hers lasted a lot longer, the odds that I won’t have to use them are pretty darn low.

I’m actually pretty happy with the way I’ve handled myself during Paige’s seizures.  When I first thought of Paige having one I would get really anxious and get really scared.  But after being there while she experienced one, I was actually really calm and talked to her in a soothing voice while she was struggling.  When it was over, I just did what I thought I had to do and it was over.  I’m not saying that I loved the experience because I hated it, but it wasn’t as scary as I imagined and I’m kind of proud of myself for not freaking out.  Andrew and I made a pretty amazing team throughout and Paige handled everything like a rock star!!

Happily, our little Paige recovered nicely and she’s been having really good days and is working hard in her therapies.  She’s smiley and laughing, scooting around on the floor, and watching her favorite show, Dora and Friends.  Will is loving school and trying to beat cabin fever by building forts and calling people on the phone.

Picture time!

It’s been a while!

It’s been a few weeks since my last post and I thought it was time to catch up.  Since the weather has gotten nicer we’ve been spending a lot of time outdoors and on-the-go!  Thankfully, nothing has changed about Paige’s health and she is growing big and getting stronger.  One of the reasons I’ve been so busy is because I’ve been planning her FIRST birthday party and Baptism!  Her birthday falls on a Saturday so I thought it would be special to have them on the same day!

I truly can’t believe she’s going to be a whole year old. Unlike Will’s first year, I can’t say this year has exactly flown by but we still have a lot to look back to reflect. More importantly, we have a lot to be THANKFUL for. I’ll save my recap of Year AP (After Paige) for another post but even through the highest highs and lowest lows, Paige has always been an absolute delight and we love her so much!

I’ve said this in previous posts, but we’ve been really focusing on each present moment and have been making memories.  We’ve been all over!  Phipps Conservatory, the Pittsburgh Zoo, the mall play area, play dates, parks, sporting events, lots of shopping trips, and grandparent visits.  I have found that the nice weather and keeping busy has really kept our spirits up and I’ve grown to really appreciate the downtime.  Instead of using my time to dwell and worry, I am actually enjoying the days where we can explore and the evenings I get to spend on the couch with my babies!  On our many ventures, I’ve also noticed how much Will is maturing and it is really wonderful to see.  He’s talking so much more, using his manners, and not testing boundaries as much.  It’s pretty much the cutest thing when he says, “Sank you, Mommy!” when I strap him in his car seat after a fun outing.

I’ve also noticed that Paige has grown very looong in the past few months and my arms are getting pretty buff from carrying her.  Since we usually go to kid-friendly places, I usually spend my time chasing Will around and Paige is usually in my arms or in her stroller.  I don’t really love keeping her in her stroller when we’re out because I feel like she’s missing the fun and it’s important for me that she’s a part of the group.  Actually, it’s pretty important to her too because she will cry if she’s aways from Will and the other kids now.

Now that Paige is getting older, I’ve been researching some resources and equipment that might make our lives easier.  I typically scour Pinterest and ask online support groups for recommendations and I’ve decided that Babywearing is a great option for us.  For those of you who don’t know what it is, it really is exactly how it sounds.  It’s simply using a carrier that you strap on you to help carry your child.  Although I didn’t exactly choose Babywearing as a lifestyle, it has been beneficial and extremely practical in the short time we’ve been doing it.  I did a ton of research and chose to use the Ergobaby 360 because I can ‘wear’ Paige four different ways:  Forward facing me, forward facing away from me, on the hip, and on my back.  It’s ergonomically designed to distribute the child’s weight and it is incredibly comfortable for me and Paige!  We have been loving it!

My reasons for Babywearing:

1:  I don’t want Paige to SIT all of the time.  If there is one thing that having a profoundly disabled child has taught me it’s to get off of my butt and do something because I can!  When my daughter was given a Lissencephaly diagnosis she was also given a laundry list of limitations and things we can expect her not to do.  If I can help her do anything other than lay down or sit, I sure as heck am going to do it!

2.  So she can see the world.  Since her brain is structurally impaired (her brain is smooth) we’re not exactly sure what she can see.  We know she can see but, to what extent, we don’t know.  If you smile at Paige she’ll smile right back so we know she recognizes faces. If she can recognize faces, she’s obviously is aware of her surrounding and I want her to be able to be included in those surroundings, just like her brother.

3.  Placiocephaly aka “Flat Head”.  Sitting and laying in her car seat, rocker, and crib can cause her to have this after time and it will require a helmet to correct.  With everything else that she has going on, I’d rather not have to deal with this if I can prevent it.

4.  Practicality.  Free hands, people!  I don’t have to lug her in the car seat any more and, like I said, she’s getting big so those days are numbered anyway.  When Paige is in the Ergo, I am able to have a free shopping cart again and she can interact with Will who is in the seat.  I also don’t have to worry about dragging a stroller all of the time.  I can take escalators and walk the stairs.  These are things that people take for granted.  Let’s be honest, one day Paige will probably need a wheelchair and I want to take full advantage of my “equipment-free” life while I have it!

5.  Snuggles!  Obviously, the sweetest and my most favorite reason for babywearing.  I like having her close and she likes it, too!  I also like to kiss the top of her fuzzy head when she’s in it and she especially likes to grip my fingers as I bounce her.  It’s really, really adorable!

The past few days have been holed up indoors with a sick toddler.  I think we’re finally seeing a light at the end of the tunnel but I’m really hoping, wishing, and praying Paige doesn’t get it.  Sick children are the pits!  But now, it’s picture time!

IMG_0363

Getting strong in the Bumbo!  This thing always made me a little sad because she always toppled out of it but lately she’s been sitting wonderfully in it and is getting stronger, every day!

IMG_0294IMG_0285 IMG_0277

Easter with the kiddos!

IMG_0260 IMG_0244 IMG_0303

IMG_0174IMG_0211   The Pittsburgh Zoo and Phipps ConservatoryIMG_0136 IMG_0144

Park and Shopping!

 

Swallow Study Update

Yesterday, at 7am, a very hungry Miss Paige and a very caffeinated mother made their journey to Children’s Hospital for a Feeding and Swallowing Study…  

Okay, so probably not the most exciting story but I’ll try to put some lipstick on this pig.

Let’s go back a few weeks ago when we were at the Pittsburgh Lissencephaly Meet and Greet.. I was talking to my new friends about doctors, appointments, Infantile Spasms, medicines, seizures, etc, and one of the subjects that came up was feeding tubes.  More than half of the children there already had one and, not all but, many children with Lissencephaly have/will need a gastrostomy tube (g-tube) at some time in their life.  The low muscle tone in their upper bodies make eating and swallowing very hard and it can lead to choking or aspiration.  Fatigue while chewing and swallowing combined with the low muscle tone can cause food particles to get lodged in the lungs.  All of this is basically a recipe for pulmonary infections along with cardiac issues.  Add seizures on top of that and it’s bad news bears.  To find out if your child needs a g-tube, they need to have a Feeding and Swallow test done.  

Paige, at this point, had not been studied yet.  Usually, the Feeding and Swallowing study is referred by a Pediatrician or a Neurologist but I wanted to be proactive.  Although Paige has never, thank God, had any respiratory infections, she does have a tendency to cough and gag when she breastfeeds (sign of aspiration), sometimes vomits after a bottle feeding (sign of aspiration and reflux), and she arches her back while lying down (typical characteristic of Lissencephaly but also a sign of reflux that can lead to aspiration).  Basically, I wanted to be prepared and get advice from professionals on better feeding tactics.

***Let me clarify, just because a child aspirates while eating, it does not always mean they need a g-tube.  It’s actually one of the last resorts.  Simple tactics like thickening liquids, changing bottles, and finding the right foods are the first changes and they can be very effective in controlling aspiration.***  

Annnnd now, back to the story…

We made our way up the Grape Elevator to the third floor.  We registered in the lobby and made our way to the Alligator wing and entered the Audiology department.  (Those are real things!  Cute, huh?)  We were greeted by a Nurse, a Pediatrician, a Speech Therapist, and an Occupational Therapist.  Every one had a computer and a laundry list of questions to ask me.  

How many times does she eat a day?  What does she eat?  What does she eat from?  Does has she had infections?  Does food run out of her nose when she eats?  Does she gag, choke, or cough while feeding?  Does she arch her back? How are her bowel movements?  How is her overall disposition?  How do you prepare her food?

And those are just to name a few!  

After my rapid fire answering session, we got right to it and I just… fed her!  I showed them how she ate purees first.  She did well and they were pleased with how she was swallowing.  Besides a single Goldfish cracker her older brother gave her (and she choked on) I have not tried to give her any Puffs or dissolvable food at this point.  The Occupational Therapist had some Puffs on hand and showed me how to crumble them and put them in her cheek so she feels the urge to chew.  I guess I didn’t give her enough credit before because she chewed and swallowed about four broken up Puffs, total!

Next, I showed them how drinks formula from a bottle.  I use Tommee Tippee bottles with her, and if you’ve never seen them, they really look like a boob.  She started suckling (I hate that word) strong but started petering out after a few minutes.  Formula ran down the side of her cheeks and drenched her bib.  This is normally how a bottle feed goes for her.  The therapists agreed that she was probably getting fatigued from sucking and her swallow was getting lazy.  Still, I was assured that she was not aspirating – SCORE – and I was shown a different way to angle the bottle and advised to take breaks after every few ounces.  Something that is super simple but I wouldn’t have thought of on my own!

Lastly, the dreaded breastfeeding!  It’s a good thing I’m not really self-concious about anything because if I were, this would be the place I would be!  I had three different heads right on top of her as she was eating.  To this point, she hadn’t done anything symptomatic of aspiration, but I did want them to see some of the minor problems I was seeing to get their input on what to do.  Finally, Paige did have a coughing fit and they took notes.  Both therapists and the pediatrician agreed that no liquid was getting past her throat and it was due to eating too quickly.

Final Report:  Paige does have low muscle tone but NO ASPIRATION!

Homework:  Introduce more solids and harder textures (Eek!)

Recommendations:  Different bottle feeding routine and Feeding Therapy at home

Overall, I’d consider it as good news!  In the future, especially if she acquires an infection, we will have to get another study done but, for now, she’s good to go!

Corny joke alert:  If there’s one thing my kid is good at, it’s eating *side nudge*

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.

 

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!

24 Hour EEG

Image

We’re back at it!  Back at Children’s Hospital, that is.  To make sense of all of the reasons and terminology, I’m going to have to backtrack about a month to explain why we are here.  It’s about a month’s worth of info so sorry if it’s long.

A month ago, when we found Paige’s diagnosis, we were told that Paige needed an Electroencephalography (EEG), to take a look at her brain activity, as soon as possible. The doctor said that we should expect it to be abnormal because patients with Liss are abnormal to begin with. Luckily, they had an opening and they would be able to do it in about an hour.  

I remember thinking to myself, “It’s starting…”.  The appointments, the testing, treatment plans, therapies, medications, everything.  Everything was happening fast.  Mind you, this was directly after we got news of how severe Paige’s diagnosis was and we barely had time to control our emotions and still trying to processing the news.  Thankfully, Meredith is a fourth year medical student and was there to explain procedures to us because were not prepared for any of this.

An hour later, twenty-four electrodes were placed on Paige’s scalp using glue and blow-dried in place.  Even though we knew she wasn’t hurt, it still was incredibly hard to watch her scream as the tech was putting them in place.  It was noisy, sticky, and uncomfortable but the process didn’t seem too terribly long.  When the lights dimmed, I stood next to Paige to keep her as still as I could.  The next half hour was pretty quiet until the tech placed a bright light about a foot away from Paige’s face.  The light blinked, Paige blinked, Andrew and I were like WHAT THE (INSERT ADULT LANGUAGE)?!  Meredith informed us that he was trying to induce a seizure and, as you can imagine, more explicits were used.  

The blinking lights were only a few minutes but they felt like it took forrr-eeev-errr.  It was a lot for us to handle.  Andrew had to leave the room and I had to look away.  As far as we could tell, she wasn’t having one so we were able to talk ourselves down.  Finally, the lights turned off and I think we all were able to breathe a little more.  When the procedure was finished and Paige was cleaned up, we couldn’t get out of there fast enough.  

Turns out, her brain activity was abnormal and since they couldn’t get a lot of information in an one hour, a longer 24 hour EEG was ordered.  To make a long story (just a little bit) shorter, we checked into Children’s at 8am, went through the same drill as previously stated, and were on our way home at 6am the next day.

Due to a not-so-good night of sleep, the day was spent napping only to be waken up by a phone call from the neurologist…

“We think she’s having infantile spasms.  You need to be admitted tomorrow to start a steroid treatment.”  

So, back to the hospital we went and discussed treatment options.  We decided to go with an injection steroid called ACTH because it had the highest success rate, least amount of side effects, and the shortest course.  I don’t mind having to give injections and Paige was tolerating them really well.  The only downside was that the medicine had to be shipped to my house, on ice, and they wouldn’t let us leave the hospital until they got confirmation it had arrived.  With it being ordered on Friday, that meant we had to spend the weekend there so treatment wouldn’t be disrupted.  The good news is that I got very comfortable with the injections and I actually felt more comfortable with the extra days of monitoring.

It’s been a little over 3 weeks since that hospital stay and we’re in the weaning process now.  To start, it was two weeks of a high dosage of the steroid twice a day.  This past week it was a lower dosage only in the morning and next week we stay at the same dosage but every other day.  

The Epileptologist said (oh yes, Paige also has an Epilepsy diagnosis) that all infantile spasms should be controlled after the first couple of weeks so that’s why we’re here.  Another 24 hour EEG and monitoring with a followup appointment right after.  As much as we’d rather not have to be here, we must say that this hospital has taken very good care of us.  Our room was set up to look very homey and there is someone in here almost every hour asking if we need anything.  We appreciate it and feel she is in great hands.  Of course, I’ve taken pictures to document the day…

Image
Wires don’t stop Paige from tummy time!
Image
The blinking strobe lights.  Not as scary this time!
Image

Cheeks for days!
Image


Image

Still smiling!  

Wish us luck and cross your fingers for good news tomorrow!!

-The Barbours

  (more…)

Thank You for Being a Friend!

It’s only been a few days since I opened the floodgates, and forgive me for sounding trite, but the support has been overwhelming.  All of the kind words, prayers, pep talks, and devotionals really are appreciated.  I even had a handful of families from all over the country reach out and share their experience which is ah-maz-ing because that was a huge reason why I even started the blog.  

If there has been one thing that is for sure, it’s that people are always willing to step up and be there.  Our families, on both sides, and friends have been there at the drop of a hat to come over to watch Will when we had appointment and hospital stays.  Or to just sit in with Paige when Andrew and I needed a break or let us shower in peace.  They’ve been there to help us run errands, fill our fridge, and babysit both kids to make sure Andrew and I could get out of the house.  Needless to say, we have a huge support system that is there to talk and listen when we have our weak moments and are there to celebrate with us when Paige (and all of us, really) are doing well.

Getting the diagnosis was absolutely excruciating but telling people the news was no walk in the park either.  Every single person has handled it differently.  Mostly everyone was quick to offer help.  Some were speechless.  So, so many people went out and put Paige on their prayer chains.  We’ve had countless messages from people offering support and well-wishes.  People have been there to let us cry and make us laugh.  Few people even retreated and laid low because they didn’t know what to say and some shared their own stories. It’s been extremely touching and we thank you all.

My childhood friend, and a HUGE inspiration for starting this blog, said it the best…

“If there is one thing that I have learned through my own health issues it’s that help is good, and you will be amazed at the people you will find that help you.”

She is completely right!

(and you should check out her blog, Breasts of Burden, about her journey through a bilateral mastectomy with reconstruction.  It’s incredible and I look up to her very much.)

Tomorrow, I will be posting from Children’s Hospital in Pittsburgh because Paige will be having a followup 24 hour Electroencephalogram (EEG) to see she is still having Infantile Spasms.  Wish us luck and thank you all, again!

 

Image