genetics

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!

 

 

It Just Happened – Genetics Results

Three months after getting genetics blood work taken, we finally got the call with the results!  Last Wednesday, I was putting away groceries when I saw that I had a missed call and voicemail from a number I didn’t know.  Whenever I see the particular area code that popped up I always assume it’s a doctor or a therapist so I listened to the recording right away.  The genetics counselor said she had Paige’s results in front of her and was ready to go over them but, since it was the afternoon, she would call the other contact number (Andrew) before trying to call me back.  All the while, Andrew was on the phone with her and I was waiting not-so-patiently until he texted me,

 “the news is good..”

 

Paige’s Lissencephaly is due to a mutation on Chromosome 17.  This type of mutation is something that happens for the very first time in families and neither Andrew or I carry any gene that caused this to occur.  There is no real science behind it or explanation for why and the chance of this ever happening again is very, very, VERY, low.  Like, less than 1/1,000,000 chance of happening again low.  When it was explained to us before, it was the “genetic freak accident scenario” and it was something that just happened.

For our family, it’s probably the best news we could receive and we feel thankful.  While it eases some of our fears about future family planning, it also felt like a weight lifted off of my shoulders now.  It’s still pretty maddening to not really know why, but every bit of new information makes it easier to move forward.  This did not happen from some illness that I acquired, or from a ham sandwich that I ate, or from anything that Andrew or I did.  It’s just something that happened and it makes Paige that much more special.  It. Just. Happened.

A few of my previous posts have been written after some pretty bad and emotional days and might have come across as negative.  I do not want to be a negative person and I don’t want to spend my time worrying over things I have no control over.  In a weird and convoluted way, I think the “it just happened” explanation helped shift my attitude.   No one asked for it, but it happened, and we’ll make it work.  As we’ve said before, this won’t make our lives worse.  It will make it different than what we expected, but we will still live a full and happy life.  I sort of had a revelation after last week (scary, I know) and I came up with this…

I would be devastated if my parents were disappointed in the things that I could/could not do and wanted me to be something that I was not.  Everybody really just wants to be loved and accepted for exactly who they are – and Paige is no exception.  Paige needs me, especially as her mother, to just love her, be there for her, and celebrate her for what she is.  It really doesn’t matter anymore if she’ll ever walk, talk, or fly to the moon.  Andrew, Will, and I will help her little self get as far as she will go and, however far that is, we will be so proud.  We are already so proud – and that is something that will ALWAYS happen.

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I mean, honestly, how could you NOT love this girl?!

Tomorrow, Paige will have a Feeding and Swallowing Test done to see if she’s aspirating.  Aspiration is very common with Lissencephaly and can lead to infections (pneumonia, in particular), other pulmonary issues, and a slew of other problems.  There will be a team of doctors that will observe her while she eats.  If they find that aspiration is a problem, they will make suggestions like thickening her food, changing her bottle, or even a feeding tube, depending on how severe it is.  While Paige has been a pretty excellent eater, I’m expecting some sort of modifications.  Occasionally, she coughs during a feed and sometimes, though very rarely, she’ll throw up her food after meals.  Whatever the outcome, I’m sure that it will lead to whatever is best for Paige and our family.

Boston Trip Recap

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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!

Meltdowns, Pep talks, and Picking up the Pieces

courtesy of Pinterest

courtesy of Pinterest

A part of the grieving process of a Lissencephaly diagnosis is mourning the loss of the child we thought we had and learning to appreciate the child that we do have.  I’ve written about this in previous posts and I feel like this will be a life-long process. With every stage of her life there will be constant reminders of what she won’t be able to do.  Right now, Paige is 8.5 months old.  She should be sitting up, maybe crawling, definitely exploring and playing.

But she’s not.  And according to Wikipedia, she may never do any of those things.  (Just a few reasons why I don’t search anymore…)

Instead, I remind myself what she can do.  With help, she can explore with her mouth.  She’s getting stronger during tummy time.  She’s starting to bear weight on her legs.  She’s smiling, laughing, tracking, and alert.  She’s thriving.  She’s here.

In the upcoming months and years there will be more age-related milestones that will inevitably make me sad.  When my friends will be taking their daughters to dance class I’ll be taking mine to a specialist.  When they take theirs prom dress shopping I might be taking mine for a wheelchair fitting.  When other’s kids are looking forward to school, sports, and activities, I’ll be wondering when Paige will have a seizure and if I’ll be able to lift her.  Or worse yet, if I’ll even get to have that time with her at all.

I know all of this might seem far-fetched, and once again, it’s absolutely not at all productive, but these things do creep in my mind and I hate it.  I hate that I even give the thoughts my time and energy.  I hate how I feel guilty when I do get this way.  I hate how I sometimes get jealous.  I hate that I probably am being selfish and feeling sorry for myself.

I’ve found that my worst thoughts come when I try to suppress them and be the “bigger person”.  I know these feelings aren’t particularly attractive characteristics so I compartmentalize my grief.  When I put these emotions away, I quickly find that my body and brain simply has a limit and that’s when a meltdown occurs.  Pretty recently, I decided to just let myself feel how I’m feeling when I feel it and then LET. IT. GO.  When I go about it this way, my feelings last a few moments and I can carry on.  When I keep all of them in and push them aside, they back up and it becomes an entire day of crying.  I simply can’t do that.

I give myself pep talks to keep going.  I remind myself that Paige is an absolute delight and she’s the most pleasant baby I’ve ever met!  I kiss her chubby cheeks and smell her sweet neck and love up on her constantly.  Actually, being with her keeps me calm.  SHE is doing wonderful and I am the one who is sometimes not.

In my previous post, I wrote about how Paige brings people together and is just a complete being of joy.  I still stand by that and will be proud of her no matter what she can or can not do in her life.  She amazes me every day and I am happy to have her a thousand times more than I am sad about her diagnosis.  And she will always be my best girl.

courtesy of Pinterest

courtesy of Pinterest