May :: We're about to come full circle....

It's May! AGH! Where in the world has time gone....it's been a journey and without getting too sappy on you, here's the latest Bruce update ::

Infusions are going great - we're about to start the new drug trial with the adult version of his enzyme replacement therapy next month and Children's has been busy-busy getting paperwork finalized behind the scenes....better them than me, I say.

We met with neurology a couple weeks ago and she was PLEASED to see Bruce as he is now...seizure/spasm-free since November 2011, happy, smiling and growing well. I have NEVER seen that woman pleased so it made my day. Week. Year. Lifetime. She does want a MRI soon just to see what the abscess looks like and  that's just a drop in the bucket for this pro.

PT/OT is making some amazing strides. Since starting in December, Bruce has mastered rolling over, sitting up, weight bearing on the legs and is close to pushing himself to sitting up, staying up on all fours and taking steps while holding hands. When he started after all of his hospital stays, it was way too fuzzy to say when he'd be doing any of this so to have these goals in the bag so soon is amazing. He's a strong little guy and practice makes perfect!! He's pretty much given up on the bottle so his calories are primarily baby food and bolus feeds down the g-tube. We're slowly working off the night time continuous feeds because sleep is nice for parents.....

During April, Bruce had a couple poor hearing exams. Yesterday he had an ABR where I kept the poor guy awake by rolling him in a wagon through the hospital after his morning PT appointment so he could people watch all the interesting people you see at Children's Mercy and then he slept through the hearing test of all the pitches. Low and medium pitches were normal but associated with meningitis as he had are damaged cloacaes...(I always thought that was chicken anatomy but apparently different spelling) and high pitches are affected. He is borderline failing and quite possibly going to get worse as the cloacae grows incorrectly as he grows. So, we get to add an ear doctor to the large team of Bruce's plethora and maybe I get to meet the entire staff at CMH! So, that doctor that asked me if I worked there last time could quite possibly be our new doctor.....Anyways, we'll do our best and take whatever treatment necessary to ensure that Bruce hears his momma say, 'Get out of that mud puddle' or 'Leave that poor dog alone' or 'Stop chasing the calves' or whatever this ornery little boy will be up to....

Coming up we have the Muscle and Nerve Rehab Clinic, Neurosurgery follow up and Cardiology follow up. We are not expecting any major changes and are looking forward to the rehab clinic for their initial assessment and if Bruce is a candidate for any specialized mobility tools. I don't think he'd use them too long as much progress as he's making but if it helps in the meantime, we'll take it!

On the family side - Congratulations to (my sister) Aunt Kacie and her new husband, Uncle Jake!! He's pretty much always been Uncle Jake but it was nice of her to finally make it official :) The wedding was beautiful and so much flippin fun and they had a great time living the honeymoon life in Mexico...now they're back in Iowa and ready to start the rest of their lives together!! I'm not even going to say it but Bruce would like some cousins.....ONE DAY.

Bruce's Uncle Seth (my brother) is now on his second deployment to the Helmand Region of Afghanistan and hopefully the last if politics and government ever get their heads out of their asses and ya, ask me how I really feel. We pray every day for Uncle Seth and all of the Marines and troops on deployment and will write him all the time!! WE LOVE YOU, UNCLE SETH!!!!!!!!!!!

Bruce has his first birthday this month!!! There is much to do yet for the big celebration but that'll all come in time...so I keep saying :) This coming weekend we will be walking with some friends and family in the KC March of Dimes Walk and I cannot wait to be a part of that!! Hopefully we'll get to see some familiar faces from the beginning days in the NICU and to be a part of such an amazing organization will be neat....Go TEAM BRUCE THE POMPE MOOSE!!

Little man wanted to take momma's chair and watch cartoons during his last infusion....of course I gave up my seat!

I think that's it...so much for keeping this blog updated with short and sweet posts :) Thanks for reading anyhow....God Bless!!!!!!!!!!!!!!!!!!

"No, I don't work here."

EEEEEIIIIIIIIIIIIIAAAAAAAAAAAAAAAAAAAAKKKKKKKKKKKKKKKKKKKKKKKK SSSSSSSSSSSSSSSHHHHHHHHHHHHHRRRRRRRRRRRRRRIIIIIIIIEEEEEEEEEEEEKKKKKK.

Bruce's new words. He doesn't cry or throw fits but boy, does this kid shriek. A lot.

The last several days have been chaotic, crazy and wonderful. Last Friday was Bruce's first day at the Early Childhood Center in town and I don't think he could have had more fun! He loved seeing all the kids and even ate the best for me he had all week so I think he's going to do just fine...and I'm sure learn new tricks and share his own tactics....sorry, other moms. 

Saturday, Bruce and I walked in our first 5K! It was a lot of fun and a huge thanks to the Driver family for inviting us to the Eagle Egg 5K at Summit Christian Academy in Lee's Summit! We weren't exactly at the top of the group but we weren't at the very end, rounding up the cattle drive with our small herd of children and strollers. I am looking forward to doing more this year - Bruce really enjoyed the mass of people and scenic ride!

Jake and Kacie and papa bear John met us in Kansas City Saturday evening and the four of us big kids headed to the Sprint Center for some rank bulls and tight fitting blue jeans! We all had a lot of fun at PBR and I can't wait to take Bruce with us - next year he will be making the trip with us! 

<----- Me and my beautiful sister, Kacie!! 

 Her wedding is coming up SOON.....

...17 days soon. 

My family and I made it back home to the ranch on Sunday but long enough to mow the lawn, unpack from the weekend trip to KC and get ready for the next two days of appointments at Children's for Bruce.

Monday was Infusion Day. All went well minus a late start - sitting on 1-35 at a complete standstill with no sight of a bathroom for miles is scary...I need to rethink my morning caffeine intake on our long commutes to KC should the event of another car fire occur and I am left nearly desperate for a port-a-potty. 

Tuesday had an early start in radiology with his upper GI consult from his random week of vomiting early February but fortunately, there is no obstruction nor reflux. Hard to say what that was all about but I imagine he had some of the flu bug that plagued his momma and daddy and left us nearly lifeless and just did a better job handling it than his sorry parents. Nonetheless, a consult was ordered, we complied and now we know little man fine....it never hurts to check with this one :) 

Later Tuesday morning we met with PT and Bruce showed off his new moves. She was really pleased with his progress and we discussed our next steps with little man. As she was saying she wanted to see more floor mobility before we started with standers and walkers, Bruce was rolling all over the place and she said, "Like that." We meet with rehab clinic in a couple weeks and I think we'll have a better idea when we can start with some mobility tools and get this kid upright and moving!

That afternoon was another hearing exam. Same results as last time and we aren't surprised that there is some hearing loss after his bout of meningitis last summer. Our next step is an ABR exam where they will test his ears while he sleeps to find out just how much loss there is and then decide what kind of devices he will need. Now's the time to be getting on this as he develops his speech and mobility...maybe if he hears himself scream and screech, he won't do it as much?? 

A momma can only hope....

And to the nice doctor who asked me if I worked at Children's Mercy, I hope it was because I look doctorly. 

It is amazing the amount of dirty dishes John can accumulate in just a couple days of 'baching' it but I don't have time for those today. Nor do I have time for laundry and clothes so I will be working from home today in my robe...

A parting view of our neighbors to the south ::

Even with all the chaos, screeching,and mountains of work and tasks awaiting me, I AM BLESSED!!

And that, gentlemen, is Bermuda Hybrid #5.

I loooooooove that movie. Who doesn't love some Dennis Quaid in baseball pants?!

Bruce Update :: Infusion went great. Too early for final hearing exam results but round 1 shows mild to moderate hearing loss from the meningitis. Judy at PT was impressed with rolling over but still pushing for more results - I like that about her. 

Momma Update :: New camera. It's Spring. I'm already worn out from the rain and appointments this week but I'm home and can work the online marketing galaxy in my pjs.....life is good. 

Papa John Update :: Got his new boots and they don't make his feet look big - his words, not mine. But his feet ARE big - my words, not his.

Daddy loves baby.

Baby loves bananas.

A lot.

Momma loves a happy baby.

 And chunky baby legs.

And Papa John's new boots (:

Top o' the mornin to ya!

Happy St. Patrick's Day! I've gone from celebrating in a bar with green beer to waking up to Bruce's own special pot of gold! Who doesn't love giving a cute baby a bath after a morning diaper blowout?!

It's been a great week so far! A couple nights ago, I was working on supper and John laid Bruce down on his back in the living room. When he walked back in after a few moments, little man was on his belly! After a few months of PT, we have a roller! I immediately gave up on creating a culinary masterpiece and hid behind the door to catch him on video...within a few minutes, I had plenty of proof!

The next scheduled infusion is Monday and I can't wait to see the looks on their faces after Bruce shows them his new trick!

The Feeding Saga :: Parents 1 pt , Bruce 0

Each day, feeding time is a like a box of chocolates. You just never know what you're gonna get with Bruce. 

So when he refused his bottle for the third day in a row, we added a little chocolate. 

That's right. Breastmilk + formula + thickener + chocolate malt Ovaltine.

I ended up spoon feeding it to him so he would have a taste of it and practice the spoon some more. 

This is the result! 

I don't think we solved the bottle drama but at least we know he's a chocolate malt kind of kid :) 

Sometimes you just need a good cry...

When I was supposed to be researching material for a blog that was due yesterday for work, I came across a story of a young family in Kansas who lost their little girl when she was 11 months old to cancer.

You can imagine the state of my eyes right now. And my work blog is not getting anywhere near done.

We are coming up on a year of all that we went through with Bruce. His first birthday is right around the corner in May and I should be so excited to start planning a great party for him. And I am. That little boy deserves nothing but the best and as his momma, I intend to do my best.

But I have so many emotions I thought I checked at the door when we checked out of Children's a few months ago. There is something to be said about anniversaries and I think looking back, I'm even more scared of what we went through as a family than when I was when we were living it daily.

There have been some issues with the enzyme treatment that Bruce receives for his Pompe Disease due to a shortage within the manufacturing company. Our AMAZING doctor called me yesterday when we were at the salebarn watching the second round of calves this year sell to fill me in about her trip to Boston last week to meet with the drug company suits. And any other doctor would have been mortified to their patient's mother answering the phone with an auctioneer screeching numbers in the background but not her - she knows how we roll and has seen a cow or two in her lifetime.

But her call was to inform that she has procured enough of the drug to last til his first birthday. Then he will start a new drug - the same exact drug as the first but because it is made in a bigger/different bioreactor, the FDA has not approved it and Children's has start a clinical trial and Bruce is the star of the show. The mountain of paperwork is underway and by time May comes, it will be smooth sailing.

Sometimes our doctor tells me too much info. I didn't even know she was flying to Boston to meet with the company. And I damn sure didn't know there was a shortage. But when I brag on her and say what a great doctor she is, I don't mean it half-heartedly. She's a bulldog. She will fight for Bruce until her last day because she is passionate about medicine and helping children. And I am grateful to God that he sent us to her. He knows, and she does too, that we can handle everything that has been put before us as parents to this little boy who has to live his life navigating through uncharted waters with a brave and happy heart.

He'll have a bad day now and then but because his momma is getting them out of her system now, she'll be there for him.

Happy RARE DISEASE Day 2012!!!

Today Bruce is 9 months, 9 days old and we are 9 months, 6 days into the journey and maze of doctors and diagnoses and appointments and medications and all the excitement that comes with! I never thought I would participate in celebrating Rare Disease Day because I never thought a rare disease would be such a  part of our lives. But, it is and to know our son, Bruce, you would never know he has Pompe Disease, a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages. He is blessed with an early diagnosis and available enzyme replacement treatment (ERT) that he will receive for the rest of his life. Not all people celebrating Rare Disease Day are able to say that they have treatment, let alone a name to the disorders that affect them or their families.

Bruce met with his cardiologist yesterday and keeps getting great news....NORMAL. To think that when he was only 3 days old with the diagnosis of hypertrophic cardiomyopathy (HCM) and we were desperately trying to find out what caused it and if he was a candidate for a heart transplant that today we can say he has a normal heart! That's a miracle if I have ever seen one! He will continue to stay on his heart meds for now but only because he has a history of fast heart rate episodes (SVT) -- not because he needs it for anything else. 

To have answers to all the questions we were faced with in the beginning of our journey is simply amazing. We have learned that Pompe disease caused the HCM and regular ERT treatment would help correct it. The genetics team never said that it would actually correct it altogether and we would see results so quickly...but when Bruce was two months old we had the first NORMAL heart results and ever since, he hasn't looked back but kept on keeping on. The cardiologists were reluctant at first to say it was the treatment but I think after the last 7 months, they are slowly becoming believers :) We sure are!! 

Bruce's second medical dilemma was the CNS brain abscess from bacterial meningitis when he was 2 months old...just as we were getting used to the idea of Pompe disease and all the treatment! The abscess was hard on the little guy but he was a trooper and has healed great. Our last appointment with neurosurgery was before Christmas and had great news that the abscess was nearly disintegrated. His VP shunt for the hydrocephalus is working great and we were clear for 6 months with out another checkup. We go back in May and hope it's just a routine visit!

Last month we met with neurology for the Infantile Seizures that the abscess caused and she kept him on his seizure meds. We have not seen an episode since Thanksgiving and go back for yet another hopeful routine visit in April. It's too early to tell what damage has been caused in the right front lobe when the abscess was but time will tell and if I have heard it once, I have heard it a thousand times -- babies have so much plasticity and he should be just fine!

Things we watch out for for signs of damage are his controls and functions. Eating has still been a challenge but thanks to the gastronomy tube and momma's good (mixing formula) cooking, he's putting on weight just fine. During the day when we aren't on the road for appointments, he get free choice at bottles (all that leftover breastmilk I worked so hard on pumping when he was in the NICU!) and during the night he gets hooked up to his pump. Otherwise if you see us rolling in the stroller at Children's Mercy we look like a food cart -- Bruce on his pump and momma's cup holders full of diet coke and coffee! 

Physically wise, he looks like a 2 year old he's getting so big! He's nearly 30 inches and just shy of 20 pounds. Long and lean like his daddy! He wears anywhere from 18-24 mos clothes even though he just turned 9 mos old. They vary so much anyways. Developmentally, he's in the 6-7 months range. Rolling over is SOOO CLOSE and he can sit briefly without support. He loves to mimic tongue movements which I am sure will come in handy one day when he learns to pick on siblings (no, not even close to that yet :). And he is a great little helper when it comes to medicine time and feeding time -- he thinks he can grab all the syringes and tubes himself......yesterday he was insistent on helping with the EKG and echocardiogram and the little old nurses thought it was too cute...Geesh, he's already winning them over with his charms. 

And that's where we stand on our first ever Rare Disease Day! I am blessed to be momma of this little boy and we will continue to be the best advocates we can be as his parents! So many people are affected by rare diseases and do not have the treatments they need and yet they are even more positive than we are....those are my true heroes in all of this. I have changed so much personally in the last 9 months; rather than seeing a sick child and saying a quiet prayer and walking on the far side of the hallway, I want to stop and talk to them and their parents and get to know their stories. I am not intimidated anymore of the 'taboo' Children's Mercy Hospital filled with illness and sadness yet cheerful and hopeful for all of the patients and their doctors who work so hard. God has a plan for all of us, that I know. He shows me mine everyday! 

Thank you to everyone who has supported us in our journey and continued keeping us in your prayers! Bruce hasn't been fortunate enough to meet most of you but I hope that will change soon!