One Tired Boy

We have a little boy who is starting to resist taking naps.  Unfortunately, this is what usually ends up happening.  So very, very tired!

 

Nineteen Months

 

We have lots of trees and more than our fair share of leaves.  We dedicated a good portion of this weekend to jumping in them and here is our champion leaf-jumper.  He was like the energizer bunny running from pile to pile, throwing them in the air, burying himself in them, etc.  Fall has got to be one of the funnest seasons for 19 month old!

 

And, speaking of being 19 months old, here are some of his talents:

• We have made great strides in the food throwing department.  Took his plate away when he started throwing food and viola!  Problem solved!
• He is talking up a storm!  We are getting multiple new words each day and he is so pleased with himself when he realizes that he is saying the right word to get what he wants.
• He can jump -- literally feet leaving the floor jumping already.  Incredibly cute.
• He loves sports.  If you give him a round object and a stick-like object, he can do just about anything - baseball, golf, tennis.  I predict that he's going to be our athlete.
• He is starting to ask for specific books by name and he remembers which pictures are in which books.  He'll say "baby," go get a book off the shelf and turn to the page with the picture of the baby. 
• He knows our routines and thrives on them.  In the morning, he gets up, gets dressed, eats breakfast and as soon as he gets out of his booster seat, he's running for the stairs saying "teeth, teeth" because he brushes his teeth upstairs after breakfast.  He also know that when I pick him up from the sitter, we head to his brother's school to pick him up.  The whole car ride, he's saying his brother's name and "school."
• He is starting to develop favorite clothing.  He loves his fleece pajamas and often refuses to take them off in the mornings.  He also has a shirt with a gorilla on it that he will dig through his drawer to find or extract from his dirty clothes hamper and beg to wear again.
• He still loves to snuggle, especially in the middle of the night with mommy.  He isn't eating at night very often (although we keep some boxes of shelf-safe milk in our room in case he does get hungry at night), but I think he still likes the familiar and comfortable snuggling of nighttime.  Although I never thought I'd say this during those early months when we were waking up every two hours around the clock, by the time we got to the stage where we are now where he may not wake up at night looking for you anymore, I'm realizing that I'm really going to miss those snuggly middle-of-the-night moments with him.  That was when we really bonded and I'm going to miss waking up with him now that he's big enough to sleep through the night.

Spreading the Word

I got a phone call from a journalist back in June asking if I'd like to share our newborn screening experience as part of a medical feature piece they were doing on newborn screening.  I talked to the reporter for about an hour, sent him a few pictures and talked to him off and on throughout the summer.  A few weeks ago, he called and asked if he could send out a photographer to take some photos and video of our family that they could use for the story.  We agreed and the photojournalist came out to spend some time with us this weekend.

Although I love telling our newborn screening story because it is has such a happy ending, it is always very emotional for me to talk about it.  I know other families who have not had happy outcomes like ours and I seem to meet more of them all the time in my advocacy work.  It is palatable to me that their story could be our story and we could be grieving the loss of our son.  It is also palatable to me that our story could be their story and they could be experiencing the joy of their child if only this thing or that thing could have happened differently. 

I would like nothing more than for every newborn screening story to be a happy one.  Families deserve a system that detects disorders rapidly and notifies parents immediately before their child can experience any harm.  I hope that this story conveys that message.

Metabolic Clinic Appointment

As promised, here is our metabolic clinic update from Thursday's visit.  LB is doing great!  Developmentally, he is right on target and he's staying on his growth curve, which has consistently been between 15th to 20th percentile for weight and around 60th percentile for height.  He delighted the doctors and genetic counselors as he played with his toys, rolled a ball and talked up a storm to them.  He really is doing great.

A few things that we talked about with the doctor:

• We always seem to feel like LB is smaller than he should be and we've kind of been attributing that to the MCADD.  After you have a kid like our older son who has never been below 95th percentile for anything, you wonder how you can have such a little guy as his brother.  They assure us that LB being 20th percentile for weight is just LB.  It has nothing to do with his metabolic condition.  I guess when I think about it, he is a completely different kid in so many ways from his big brother (personality, temperament, timing of milestones, etc.), so it's not that hard to fathom that this is just another way that he's being his own person.  They also said that it's good that he's staying on his growth curve because they often have trouble with obesity in kids with MCADD.  Parents are understandably terrified to let their kids fast and tend to overfeed them, which can lead to unnecessary weight gain.  So far, we are doing great with LB, though. 
• We brought up our table manners issues (how he throws a lot of food at meals and we just give the plate right back to him to throw more) and we got some very good advice from the metabolic physician.  She told us that just because he has MCADD doesn't mean he has to eat more food than his stomach can hold.  If he's throwing food, he's probably not hungry and it's ok to take the plate away and excuse him from the table.  She stressed that we should discipline him in the same way we did our older son (when our older son threw food at this stage of development, we took his plate away and ended his meal -- the throwing stopped within weeks whereas the throwing with LB has been going on FOREVER it seems).  She also gave us some sage advice to not let food be a trigger for our family on any front.  We are going to have times that we absolutely need LB to eat to keep his metabolism out of trouble and if we use up all of our food capital on this kind of stuff, it's going to be a harder road to convince him to eat when he really really needs to.
• They previewed that in future appointments when LB is able to speak for himself that the physicians will be interacting more directly with him while we are more in the background.  They have a philosophy of empowering the children in their clinic to be able to speak for themselves about their health and how they're feeling and it will give him practice to role play this while in the clinic.  This makes me feel very good about the care that he's receiving here.  I know that there will be a lot of times that my husband or I won't be with him in his future (going to school, going to sports practices, even just playing at a friend's house) and he needs to be able to go talk to a teacher, a coach, an adult and tell them if he's having a problem, if he needs to eat/drink something and what he needs to eat/drink in order to feel better.  The sooner he gets to start practicing that, the better. 

They also checked his carnitine levels with some lab work and we'll get those results in a few days.  We keep carnitine in the cupboard for when he's ill, but his labs have never shown carnitine deficiency, so we don't need to give it to him on a regular basis.  They said they typically don't see low carnitine in kids this young, but that eventually, he may need to be supplemented and they always check, just in case.

We also talked briefly about the impending discontinuance of polycose.  Abbott labs announced that they will no longer be making polycose, so we will have to switch LB to something else for his sick-day sugar-beverage protocol.  The physicians assured us that there are a lot of substitute products on the market and that they will be making a recommendation on one once the polycose supply is gone.  They also said that as he gets older, he can get away with drinking Gatorade or he can add sugar to any number of beverages and he won't necessarily need a prescription sugar solution.

We go back to see them in 6 months and we'll continue to see them twice a year until he gets to be school-aged, at which time going annually will likely be sufficient.

The Greatest News!

Big day today - spent most of it at Children's Hospital for LB's (planned) semi-annual checkup with his metabolic team and a (unexpected) visit to the Pediatric Heart Institute. After lots of wiggling through an echocardiogram and EKG, he got a clean bill of health from the cardiologist! Thrilled and thankful for this great, great news!. It has been a stressful and uncertain few weeks, so it's a HUGE relief to put this one in the win column. He has two completely benign heart murmurs.  And I can exhale.

I'll update on the metabolic appointment later.  The cliff's notes version is that it went really well, too. 

A Small Victory and a Tiny Bit of Relief

I forgot to take the cardiology referral with me to work today, but the minute I walked in the door after picking up the boys, I made that phone call.  I was dreading having to take LB to yet another specialist (mostly because I didn't want him to have a heart problem in addition to his metabolic condition), but at the same time, I was anxious to have some clarity and some answers about the murmurs and what they meant.  I was also dreading calling them and hearing that they could squeeze us in for an appointment in November and that we would have to wait more than a month to get those answers.

To my pleasant PLEASANT surprise, after taking all of the basic information on LB, they asked if we could make an appointment on MONDAY.  Really?  You mean Monday as in 4 short days from now?  Why yes, Monday...in four days.  I was floored.  Unfortunately, the appointment time was right in the middle of our oldest son's first preschool field trip, which we had volunteered to chaperone, so I pressed my luck and asked what their next opening was.  It was on Thursday, exactly a week from today and I took it. 

I hung up the phone and exhaled.  I was nauseous with worry and had seriously been on the verge of tears all day because I was so upset by the thought of LB having something else on his medical resume.  Knowing that we would have answers in one week was a small measure of relief.  I can deal with these feelings of anxiety and uncertainty for a week.  We wouldn't have to wait for a month to figure this out.  At this time next week, we'll know what we're dealing with.  We're hoping for another innocent murmur.  If it turns out to be one of the other possibilities (hole in the heart, heart valve problem), we'll just need to get to that place of peace again (similar to what we had to do when we found out he had MCADD) and just do what we need to do.

18 Month Check-Up (The Well Visit that Wasn't)

LB had his 18 month check up today.  As usual, we were looking forward to seeing how much he weighed, how tall he was and how he was progressing in physical/motor/social/verbal skills via the developmental questionnaire we fill out at each well appointment.  The visit started great.  He weighs 22 lbs (19th percentile) and is 33 inches tall (61st percentile) and we got through about 20 more developmental questions that put him solidly ahead of the curve (running, talking, picking up small objects, stacking blocks, etc., etc., etc.).  Then the pediatrician came in and told us how great he looked and how well he was doing.  Fabulous! 

Then, he started his physical exam.  LB was cooperative, as usual, and at the point that the doctor started listening to his heart, I could tell that he was taking extra time and listening extra carefully. Initially, I was not concerned at all.  We had seen another pediatrician at the last appointment because we just needed to get him in quickly (since I -ahem- missed his 15 month appointment - doh!!), so I assumed our regular pediatrician was just taking some extra time to hear the innocent Still's murmur that was found last month.  Well, turns out he heard the Still's murmur AND another one.  He was concerned about the other one.

He explained that murmurs are just noises that the bloodflow of the heart makes and that certain noises can indicate certain things.  The new murmur that he was hearing could be a few things -- it could be something else that is innocent OR it could be two other things that were far from innocent.  He told us that murmurs sometimes indicate blood flowing through a hole in the heart that isn't supposed to be there and that murmurs sometimes indicate problems with heart valves, which are supposed to have three flaps (called a tricuspid valve), but can sometimes have only have two flaps (called a bicuspid valve).  Those final two scenarios were concern enough based on the specific sounds he was hearing, to refer him to a pediatric cardiologist.  The pediatrician was reassuring and did a great job of delivering the news and I definitely put on my game face and told him I understood and appreciated the need to be thorough, to get it checked out, etc., but on the inside, I was crushed. 

Really?  Our sweet little boy who already has one medical condition to contend with and now he has to go see a cardiologist because he might need heart surgery?!  Really?  Do we have to add this to his plate, too? 

I also started to blame myself.  What the heck was I doing while I was pregnant to cause him to have a heart problem on top of the faulty genes I passed onto him?  Did I somehow cause this?   Could this one be my fault?

It was a pretty silent ride home from the pediatrician and it took us awhile to call Grandparents and siblings with the appointment stats (which are usually happy phone calls) considering there was also this rather crummy news to report, as well.

Luckily, the pediatrician recommended two pediatric cardiology groups in our metro area and I have a Task Force friend that is the world's most knowledgeable parent resource on pediatric hearts who was able to point me to the cardiology group that she trusts the most (Amanda Rose Adams, check out her book Heart Warriors, she is amazing!) so at least it will be easy to schedule an appointment, which we are anxious to do.  I'm worried that this uncertainty hanging over us will quickly become oppressive.  I know specialists are sometimes hard to get in to see, and I can't imagine needing to wait a month to find out what's going on.  I'm already feeling in a funk over this whole thing.  LB is too cute of a kid to be sick!!