Monday, October 26, 2015

Genetics and Complex Care

I think it's been a while since we've actually had anything hopeful to say, but as we wrap up October, we've been moving forward and feeling kind of positive about things.

We did see Genetics, although it was not the most productive visit.  Disappointing, since we've been waiting so long to get in there.  Their only idea, really, was to test him for Russell Silver Syndrome - a congenital growth disorder.  We'll see how that turns out, although I don't expect any big answers there.  He doesn't look like an RSS kid.  I don't even think Genetics expects answers.  On the up side, Aidan thought the Genetics waiting room was the most fun waiting room he's seen in a long time.

Being silly at Genetics
Thankfully, the Diagnostic/Complex Care Center visit went better.  So much better.  I have no idea how we got in to see Dr. M so quickly, but I'm thankful for whatever backstage witchcraft and wizardry made it all happen.  Anyway, the plan from our visit was to have Dr. M's office coordinate all of our future inpatient stays, which should hopefully make a big difference in our overall level of frustration every few months.  He will also be contacting Genetics to suggest that they dig deeper on the PHKB mutation.  The bigger (scarier?) thing he's going to work on is having CHOP's Mito team review Aidan's chart get their thoughts and see if we can start evaluating him for a Mitochondrial disease.  I don't know exactly how to feel about this, so for the moment, I'm going to just focus on being hopeful that this is a new idea that we haven't explored yet, and maybe it will take us in new directions that will give us betters ideas for treatment.

Aidan has been so tired lately.  I feel like all I hear from him is that he's too tired to play, or too tired to go anywhere.  I don't know what's going on.  His night sleep isn't good - but it's certainly not worse than it has been.  Weekend visits to Nikki's new house have been pretty sleepy - I just don't know how to make this better, and it breaks my heart.

But we do still get to see this Aidan - our sweet little goofball, who brings so much light into our lives.  I'll do anything - take him anywhere, to see anyone - to get just a bit more of this face into our lives.

Silly :)
The rest of this month will see Aidan at CHOP for his swallow study and his GJ tube change.  Hopefully, he'll be back on his feet and feeling good in time for Halloween - he's got big Trick or Treat plans with his best buddy.

Still working to schedule our trip to Pittsburgh.  I know they've been reviewing his records, and hope to get in to see them soon.

Sunday, October 11, 2015

Lots of appointments to come!

Soooo, it's been a few days a while a month forever.  We've been okay, hanging in and trying to take things one day at a time.  Things are just so overwhelming right now, and writing about them is sometimes just a little more than I can handle.  But really, we are doing okay, we just have so much on our plates.

We've done some fun things in the past month - the Strides for Safe Kids walk was a good time and Aidan did surprisingly well in the crowd.  After that event, Aidan got to go to a Shopkins trading event - which was *awesome* - he did such a great job talking to the other children and asking if they wanted to trade.  No tears - I was so proud!  We also attended the Autism Awareness event at the zoo a few weekends ago, which has grown into a really nice event with great attendance and helpful networking opportunities.  I love that it's at our local zoo, which Aidan knows so well that it doesn't overwhelm him.

He's also been working hard on feeding skills, and has started feeding therapy.  It's only twice a week, and due to scheduling stupidity, it works out to 3 times every two weeks, which is only slightly better than nothing.  Luckily, he has a great team of people in his life, who continue to work with him and encourage him every day at school, and recently I happened to walk in on him actually nibbling at a rice flour pancake.  Proud mama over here!  He doesn't have much of a bite with his molars, especially on his left side, and getting anything bigger than a crumb in his mouth makes him gag - but he's getting there!  Unfortunately, his swallow is questionable and needs to be more formally evaluated for airway safety later this month, so until then, we're not working on liquids.

October brought us the tiniest bit of drama - an urgent care visit, and eventually an ER visit for a yucky stoma.  I really hate stoma problems, and we're always so lucky that his stoma is so beautiful and infection-free.  But really kind of out of nowhere, it sprouted granulation tissue that got infected and painful, and things were just no fun for a while there.  Right, as you would imagine, when I had no time to spend in the Urgent Care/ER all night long, because of course.  But I'm thanking my lucky stars that's all it was, because as I sit here writing this, I'm watching some of the babies I love from afar go through ten kinds of hell inpatient, and I know how much worse everything could be.  Aidan's been doing pretty well lately, and I don't take that for granted even for a minute.

We've had to stop Karate for now.  Aidan's little body is just too tired.  He just can't do it.  And I can't keep forcing him to do something that's just too much

Heis participating in soccer, which is super adorable.  Although I might be using the word "participating" loosely, since he really likes to just sit on his ball and watch once he's tired, and without 1:1 coaching, he forgets what he's doing and wanders off.  Don't care.  Adorable.  After soccer wraps up, he'll be taking a break from sports until we get his energy levels figured out, because I really think there's something awry here.  I'm hopeful that either CHOP or CHP has some ideas for us.

He's the dainty one, seated while everyone else plays.
The rest of the month is coming at us fast and furious - this week we'll see Genetics (this one's kind of a big deal, since we're looking for big answers here, or at least big ideas and a path forward) and the dentist (not a scary one for us, but a rough one for Aidan).  Next week, the Complex Care/Diagnostic Center which is another big deal for us.  I don't even really know what to expect from that visit, I just know that we need help, and we're hoping they can give it.  The following week, Aidan's swallow study, and then he's inpatient for a tube change.  Hopeful that he stays healthy and is discharged and feeling well enough for Halloween fun.

We have forwarded his records along to Pittsburgh and are awaiting word onwhen we'll be traveling.  I'm nervous - not knowing exactly when we'll go, and how I'll handle it with work, and whether it will even give us any answers - all if it makes me sick to my stomach, if I'm being honest.  But these are all the right things to do, and the right steps forward, and I just have to trust that Aidan will find answers down one of these avenues.

We'll keep you posted as appointments happen and travel plans come together.  Wish us luck!

Sunday, September 13, 2015

September already? Playdates, Sesame Place, and Support

What a week.  September already!

We kicked it off with a playdate with one of his best friends.  We played at Jungle Wonder, which is an awesome, fun, deliciously germy place to run, jump, and climb.  It was fun to watch him have so much fun with her, but after the first half hour, it was clear that he was struggling to keep up.  As she ran and climbed, he started to lag behind.  His little body just gets so tired.  What's tough is that he's old enough now to know that he's not keeping up.  There's really nothing quite as sad as hearing your four-year-old say "Mommy, my friends have blazing fast speed.  Why don't I have blazing fast speed?"

I'm grateful that he's able to get out there and play.  Grateful that he's not immunocompromised, or so medically fragile that playdates are a pipe dream.  I just wish I understood why he's not keeping up, and why his body isn't supporting his four-year-old lifestyle.

Anyway - on a happier note - we've officially reached the age of eagerly awaiting toy catalogs in the mail.  This week, a sale flyer from Learning Express came, and he picked out all of the Shopkins that he hopes Santa brings.  He visited the toys he's loving at Target and we decided to take pictures so he won't forget what to tell Santa all about.  Way too cute.

It was pretty nice to have a long weekend at my disposal - I took advantage of it by having a special Mommy/Aidan date at Sesame Place.  It was amazing.  He loved the rides and even met some characters.  I was so proud of him - everything he tried, his behavior, everything.  It was really the perfect day.

Tuesday brought me to the Support Group that Mimi recommended.  As the other moms talked about what brought them to the group - some more than a decade ago - I thought about my own reasons.  The short version - it was a recent visit to Nutrition where I came especially unglued, and Mimi thought I might need some other moms to connect with.  She wasn't wrong.

It felt right to be there.  These moms have been through the ringer, more than a few times.  Their children have been through all of the worst and scariest things, and these moms lived through all of it with them.  There seemed to be this common thread for most of us - nearly everyone there had a child with an underlying issue that was still undiagnosed.  A known collection of problems, a suspicion that there must be some underlying cause, but no unifying diagnosis.  As we each introduced ourselves and spoke of our children, there was this easy back-and-forth between everyone.  Sharing of ideas and thoughts, and when it came time for me to speak, these veteran moms immediately thought Mito.

It would be an answer - but it's not the answer I want. I'm so hopeful that Rare Care and Diagnostic/Complex Care have ideas that would explain things and get us on the right track.  All I want for him is to feel better - to feel good, to live a happy, pain free life, and to feel normal - whatever normal may turn out to be.

While we work on figuring "normal" out, my heart is always warmed by the availability of volunteer organizations whose sole purpose is to brighten the days of children whose daily lives are a struggle.  Recently, someone told us about Feel Better Friends ( - handmade dolls crafted by volunteers for children battling cancer or chronic illness.  The dolls are made in the likeness of the little fighter they are sent to.  Aidan's friend (creatively named Aidan) sports a button feeding tube, a backpack, and a medic-alert bracelet - just like him!  Also, little Aidan loves school buses - just like a little guy I happen to know and love.

Seriously, how adorable?

My little ham

Something new - because nighttime wasn't fun enough - a middle of the night wake-up to a hysterical boy claiming that "my mouth isn't right" and "I'm not my right size!"  He was disoriented and confused and kept talking absolute nonsense.  "I can't talk to you right!" "Please don't leave my body here!" "My throw up isn't going to work."

Ugh.  Awful.  I hate not knowing what's going on.  His blood sugar was fine, he had no fever, he was just disoriented and apparently nauseous.  I hooked him up to a farrel bag, because what else is there to do, and he immediately drained some bile.  That helped his nausea enough to convince him to take some melatonin and get back to bed, but no sleep for me.  I don't know what happened, but it scared him enough to scare me. 

Sad little sicky...

Next week - Strides for Safe Kids (annual food allergy expo), Shopkins Swapkins event, Aidan's first soccer game, and his first feeding therapy appointment.  Whew!