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!

Oooooooh, my.......

Has it really been nearly THREE MONTHS since I have posted last? Yikes! I forgot how much I missed this little box to type in...it's a great escape for me to ramble on and on!

So much has been going on!! Which is half of the reason for the lack of blogging lately but also because I am so honest in this blog, I kinda put it on the back burner so all of my family readers wouldn't check me into the loony bin for opening up my stressed-out mind :) And, man, was it ever stressed...the last stay in October for Bruce in Children's Mercy nearly done me in. We were not expecting such complications and we certainly weren't expecting the team of doctors to fail so poorly at communication with each other and cause a ruckus.
But, they did. And we survived. Because that's how we roll!

Hanging with momma! 

The last couple months, Bruce has been making tremendous strides with his health! His last MRI in November showed great results that the abscess was nearly gone. His infantile spasms were still occurring at the time but since Thanksgiving, they have been controlled with medications and the neurologist was optimistic then they would disappear altogether as the abscess dissolved. And we're in the middle of January with no issues to speak of!! Tomorrow, bright and early, Bruce has an EEG and a neurologist follow up so we are very excited to see what that has to say. And a little apprehensive.

Other great results have been in physical therapy. We tried a couple different places but settled with a lady at Children's Mercy (imagine that!) who has seen another child with Pompe before. In our search, I was explaining a lot what the disease was and what other results have been but Judy at CMH knew all about it and honestly, was very worried when she saw Bruce's case. The first appointment she shared with me that when she watched Bruce and I in the waiting room that day, she knew already Bruce was doing MUCH better than most infants with Pompe and she was happy to see that! We are very blessed!

Bruce has P/T every week and that will continue for some time. Eventually the sessions will taper off and we'll move over to the rehab center but for now, it's weekly P/T with Judy. When we first started only last month, Bruce was very 'iffy' about his feet because he pretty much didn't know he had them! When you spend so much time lying in a hospital bed, I guess your feet are the last things you really think about. Since working with him, he now knows he has two rather large feet and loves to pull his socks off...he certainly gets that from his barefoot momma!!

We also work on weight bearing and yesterday she introduced leg splints much sooner than she imagined! They are pretty cool looking - red with rocket ships. When daddy saw them he said they look like the ones he uses for baby calves when they have wobbly legs, minus the rocket ships. I'll never forget, many moons ago in the beginning of our journey, when we saw a baby calf running out in the pasture all cute and awkward-like he said, 'That is going to be what our kids look like!' I reckon he was spot-on!!

Bruce's first Christmas was fantastic! It took me nearly four days to organize and put all of his toys away but he made out like a bandit and is a very loved little boy! I'm excited as he grows to teach him what Christmas is all about and that while over-the-top gingerbread mansions and over-indulgence on grandma's baked goodies are great and all but really the day is for Jesus and to celebrate him in our lives! I will never forget how blessed I am and I want to share that with him!

2011 was a year I am sure I'll never be able to forget. Even if I were to try. It came in peacefully, roared like a freight train throughout and left us in the end stronger than ever before. It all did happen. John's dad beat prostate cancer. Bruce entered this world the same weekend as the Joplin tornado and left an aftermath that seemed at times to rival mother nature's fury. My brother returned home safely from his first Afghani-hell deployment and spent Christmas in Missouri - the first time since becoming a Marine. I left my first after college job as a big girl and said 'see you later' to the great guys I worked with. My sister got engaged to a perfect man for her I am proud to call Uncle Jake. Relationships were put through the ringer.

 BUT....!!

I became Momma to a child who has taught me more about life, myself and faith more than anyone before. I feel stronger, wiser, a little more tired than usual :) and I think if I had listened to up above sooner, I would have questioned less and gone with the flow better. I wouldn't trade a dang thing for the experiences I had in 2011 and I am forever thankful to God for bringing Bruce into our lives!

Here's to 2012 and the memories I can't wait to have with my family!

Keep a weather eye on the horizon....

We're coming up on two weeks back in Children's Mercy and a lot has changed in the last couple weeks. In Bruce, in myself, in future plans. But that's life; you can't change it but you can adapt. And I am like a karma-karma-karma-karma-karma chameleon.

Health update :: If you recall back to last month, we thought Bruce, er, we were told by neurologists and gastroenterlogists, he was having a type of reflux that triggered 'seizure-like' episodes. So antacids were prescribed and Bruce got a purple pill a few times a day...and just when I mastered how to give a 4 month-old a pill, plans change. Big time. Last week a new neurologist came on board and met Bruce herself for the first time. She had heard about these episodes and wanted to see for herself. Since Bruce had been admitted I happened to have one captured on video on my new fancy phone and showed her. I'm a face reader and I didn't like what I saw on her face. Her funny resident with a bow tie saw the look too and knew what she was thinking. Her diagnosis, Infantile Spasms. And they are as scary as they sound.

Most babies are born with electricity in their brains that shows up on EEGs when they have Infantile Spasms. Bruce was not born with them so his EEGs have never shown the hypsarrhythmia that detects spasms but they can be triggered by issues in the brain and in Bruce's unique case, his brain abscess is the culprit. This is not something they have seen from brain abscesses but more typically from brain lesions or tumors.  So, there was much arguement between all of his doctors that this was an incorrect diagnosis and we shouldn't call it Infantile Spasms but really after much debate, it is what it is.

He's started on a new medication that seems to be helping so far. He is not yet worked up to the dose where they will hopefully go away all together but that takes time. We have some options, medication-wise, to treat them because the goal is to eliminate them all together. And it is a possibility that he will grow out of them as his brain abscess heals. Infantile Spasms are kinda like super seizures...seizures don't hurt or do damage, unless you have one and fall and hurt yourself, but they don't cause brain development issues like spasms do. Bruce is behind physically developmentally but we knew that from all of the time he's spent in a hospital crib. During the second brief time home, we started working with Missouri First Steps and that will definitely continue but as a parent, I need more. And time will tell what, if any, damge has been done from the spasms.

When I was pregnant, I made some life-changing decisions with my unborn child in mind. It was a year ago exactly that my whole world changed and I am so thankful. But pregnancy does that for every woman. It is beautiful. I was a bubbling ball of hormotional momma hormones and willing to change my life plans and make every decision for the heartbeat growing inside of me before I ever made a decision for myself. And now that Bruce is here and I can touch him and hold him and shower him with momma kisses, nothing has changed. I am still making every decision for him as my number one priority.

So much changes for people when they become parents. For those of you who know John's and my history together, it's been trying at best. But we have overcome so much together and now we are raising a baby with needs we never dreamt about. Hell, we are raising a baby with needs no doctor ever dreamt about. An infant diagnosed at 13 days old with Pompe Disease who overcame hypertrophic cardiomyophathy within two months of a new treatment who then caught a common bacteria but then turned into bacterial meningitis and resulted in a brain abscess that is now causing Infantile Spasms? That's like a twisted medical version of the M.A.S.H. game I played as a kid to figure out which sports car I would drive and early 90's heartthrob I would marry. It's certainly not text book. And I drive a Malibu.

Plain and simple, Bruce is a medical miracle. We have a wonderfully unique little boy who is so danged cute. And we're going to make decisions that are out of the box because we have a very out of the box situation and want the best for Bruce, no matter what.

Last week ended with a conference with five of Bruce's many specialist doctors to come up with a plan for little man. I think they've got a good one in place and tomorrow is a new day. This week he will be getting a permanent feeding tube in his belly that will help administer all of his meds and always work on feedings. Also this week I have the numbers of some development programs to enroll him in. Where ever and whatever, it'll be for his best interest!!

It's me again, Margaret....tehehehehee!!

Do I sound like a broken record?? One would think they would go craaaaaazy for as much as we have been through but I don't think I'm too bad.....YET!

Bruce is back in Children's Mercy. His infusion Monday went fantastic but I brought to attention his newest medical mystery....a black tongue. From what I heard, there was some slight panicking on behalf some of the staff but quickly a cause was found and it's from one of the strong antibiotics. Hopefully next week when his 4 months of antibiotic therapy is over, his black tongue will go away. (On a side note, I did make Halloween cupcakes the day I noticed it and they did have black marshmallow fondant but I can assure you, my 5 month old did NOT eat the cupcakes.) I thought it was ironic though.

But the tongue is not why he's back. On Tuesday, he had Special Care Clinic and Infectious Disease appointments. For the last week now little man has been incredibly fussy, which babies do, but as parents you know your child and if something is wrong. With all that Bruce has been through this summer, the docs agreed a ct scan would be helpful to make sure everything with the shunt was alright and nothing was out of place. Fortunately, everything looks ok shunt wise but on the ct scan, they noticed the ventricle is slightly enlarged. Which is concerning. So they admitted him and a bunch of tests have started again.

Right now, we really don't have any answers. The neurologist stopped by today and upped his seizure meds because come to find out, he's chunky. I guess he's been putting on too much weight but as a momma, that's music to my ears. There is nothing wrong with a healthy, well-conditioned baby. We're waiting to hear from neurosurgery if they have any suggestions but last we knew, they weren't too concerned. So, it's literally a waiting game. Bruce is still fussy but the nurses on 5 Sutherland are glad to have him back. Secretly, I think he's happy too to see his ladies.

Back to the 'too many chefs'. Every doctor has their own agenda when it comes to Bruce but the end goal really is to get him healthy. The communication has been lacking some but hopefully our geneticist is going to step up and herd up the free-ranging cats and get everyone on one page. Her theory to Bruce's poor eating habits is from the damage done to his brain from the abscess and suggests maybe a more permanent tube in his stomach for feeds. We were hoping as parents that the antibiotics were the culprit and once he was off them, he'd feel better. It will be interesting to see how next week plays out and how Bruce responds. A g-tube may be necessary but one thing is for sure, we will work with Bruce each and every day to make sure he is learning and growing and doing as best as he possibly can. Soon we meet with a Behavior and Development specialist at CMH and we'll get the ball rolling with as many programs and work as he needs!

When we were riding up the elevator Tuesday to Bruce's first appointment, we ran into his old NICU buddy's grandma. His buddy was born in March, two months premature (his due date was the same as Bruce's) and had a lot of respiratory issues. Finally after 7 months, he was getting to go home!! We were so excited for them and wish them the best of luck on the outside!!! Hopefully one day his momma and I can get the two ornery fellers together for a play date and we can tell them both how many headaches and sleepless nights they gave us....and how proud we are of them for growing big and strong!

Surprisingly, but then really not, we are in our same room we had six and a half weeks ago. It's like they saved it for him. It feels a little too much like home.....but I do enjoy the view of Union Station twinkling in the night lights as I sit here and type!

I started working, YAY!! It's a fantastic opportunity to do some things I really love....organize, data entry, emails and blog! I know, I'm a dork. It's for a Kansas City-based online marketing company, Turn The Page Online Marketing, and I get to do pretty much everything from my computer. And my computer goes with me everywhere - home and hospital - so I have something to focus on in between doctors and nurses popping in and out and while little man snoozes away at night. It's a great company and has some really great people working and I'm soooo excited! While I miss all the guys and farmers and office folks at the coop in Iowa, I'm happy I can do something that allows me to learn a new industry and be with Bruce as much as I am. I'll still spend some time this winter sitting around drinking coffee with all my favorite farmers though....

So that's the latest. I haven't made arrangements to stay at Ronald McDonald house yet because who knows how long this stay will last but if it looks like we'll be here throughout next week, I'll get a room. For now I'll be bunking in Liberty at mamacita's...home cooking beats cafeteria food!

Bruce sends his love and his parents say THANK YOU for the continued support and prayers!!