Month: April 2014

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*

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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.