Bill's Medical Journey

I'm not going to lie, this was a little disheartening to request this from Bill's doctor. On the positive side, I'm so thankful for his entire team at Peyton Manning Children's Hospital. I called yesterday and this arrived today, they felt it was an easy temporary fix for our trip to Disney.

Don't forget to wear green on Friday to show support for Bill and his mito warrior friends! 💚 This is Mitochondrial Disease Awareness Week, I'm proudly wearing green on Friday to shine a light on an often invisible battle. Let's support the incredible kids and families who are true warriors in this fight! 💪💚

Here are 3 important facts about Mitochondrial Disease:

1️⃣ Mitochondrial disease affects the "powerhouses" of our cells, the mitochondria, leading to energy production issues.
2️⃣ It can impact any part of the body, from muscles and nerves to the heart and brain.
3️⃣ Early diagnosis and research are crucial to improving the lives of those affected.

Let's unite, spread awareness, and support these brave warriors! 💚🌟

Be still my heart this boy wanted to be able to sleep in his own room. For 9 years he's been by my side (in his own bed) but when you have a kid that quits breathing since birth it does something to you. Your senses become even more heightened you don't sleep well and the only comfort is knowing your a few arms length away to rescue him when he needs it.

He's getting older and I know this is the right decision to allow him to grow, but it's gut wrenching to think of the what if....unless you've lived this life you can never understand. Truth is I offered to lay with him because I already missed him being so close. 😭😭😭😭😭

To say I'm proud of this kid would be a freaking understatement! He's been pushing himself in all areas of life, physically, emotionally, and mind set. He's using all of those amazing skills he worked so hard to learn with ABA, but what your not taught is how to process kids and their hateful comments!

My momma heart is completely shredded for him and I'd like to march right up to the door steps of those evil kids and choke them and their parents. Yep, I said that! He's made fun of on a consistent basis by kids that don't understand inclusion, kids who I'm sure their home life is not great or well parents think their kids would never say hateful things.

Sometimes though, even the strong ones break and get tired of fighting and they fight back! I'm still going to try and teach my boy the proper way to handle himself when he's reached his limits but it would be nice is he could catch a break soon!

FRIDAY SEPTEMBER 23rd, WEAR GREEN, POST TO YOUR WALL A SELFIE and

Amazon stepping up their mito awareness game! Friday we got some news from genetics that no parent ever wants to hear about their child. It's no secret Bill has gained a significant amount of weight in the last year, and well really the last 4 years. I've said things to the doctors for years, because it was concerning due to all of his other health issues.

It's not like we sit around and let him eat junk food constantly, I've never been the mom to even allow my kids to drink juice or lots of milk because it's full of sugar. I do realize I've not been the best role model when it comes to food either.

Bill loves to be active and never wants to stop playing outside with friends or inside. He seriously never sits still, but it has become to much on his body and he's now adjusting more than ever to play. His weight is putting so much pressure on his already weak diaphragm and core that it's now going to kill him if it doesn't come off quicker than it went on. Yes, I said kill him and I'm not talking about in 5 years, I mean we need fast weight loss immediately to help his diaphragm.

Here's the worst part, because of his disease balancing the activity levels, and not doing damage to his body is also not just as simple as signing him up for wrestling or football. If a kid lands on him, it could kill him. I'm a complete mess over this and I'm so mad at myself for not being stricter sooner.

I've said it before, we don't live our lives in fear of where his condition can take him. You can't live that way, so his genetics doctor held my hand and said, we control what we can, remember. You can control this, and we don't worry about the things we can't control.

As a mom, I've said things over the last few years at each appt, to each doctor. I've even locked up all access to food in my home. That was a hard decision to make, but we did it months ago. It definitely stopped the sneaking of food and the bottomless calories he was consuming that I had no clue how bad it had gotten.

Now it gets even harder, he has no choice but to be placed on a strict DIET! He's 8, a diet, I'm so against scales and the word fat or overweight in my house but I love my son and my kids more than anything in this world 🌎! So here comes the biggest lifestyle change we have ever done as a family.

How can you help? Take him for a fun walk, or play toss with him, don't buy him any food, candy or drink products. I have to know every calorie he's consuming on a daily basis. Thank you for supporting our boy! 💚💚💚💚

Friday- September 23rd, Please wear a green shirt 👕 to show your support for Mito week! We'd love to show Bill all of his mito supporters , if you can take a photo, post it to YOUR WALL and tag us in the photo. Don't forget to use the

Summer is really starting to catch up with Bill's body. He was supposed to start the Ican Bike camp this week, but he asked to just rest today. I'm not sure he's going to be able to attend camp, but I am at least glad he's starting to understand his limits a bit more.

Medically were waiting on some more genetics results, I'm looking for a new cardiologist for him, and his primary doctor is really on board with trying to help us navigate specialists. We're heading to Colorado soon and Bill now has to take a portable oxgen tank with him to use for at least the first few days there to get adjusted.

It's been a crazy couple of months for Bill. He's struggling so badly at school, but he's been communicating why he is just done with it. He's doing what we've taught him for the last 3 years, use his words, tell us what you need and he needs more help at school!

Medically more things are being thrown his way to get tested for and his well check this year with his primary care doctor lead to her belief needing to be some of the same tests.

We've tried some medications for Bill's anxiety, depression and adhd and it went horribly! It's becoming very evident he may not be successful with stimulant adhd medications at all, but it would also be great if he could due to his weight.

Onto the weight, well this has been a major topic for some time and it's been one I've pointed out for the last two years with his team. In the last year he's been sneaking food so much and it also affects other aspects of his like his breathing and tolieting etc.

I'll say this, I hate people's judgment of "weight gain" because it's perceived as your a bad parent or no one cares etc, when it consumes your every though as a parent. I've never allowed scales in our home because I'm terrified my kids would get and eating disorder. I'm fat, so how do I preach to my kids to watch their weight? I don't work out, nor do I like to, I'm definitely not athletic either.

I made a decision to lock everything up, because it's become so obsessive and I can't watch him 24/7, but as a parent it's probably one of the hardest decisions I've made because of the absolute guilt! He's telling me he feels hungry and not full, he's begging for food and it's breaking my fu***ng heart 💔! I'm sticking to my guns because I know it's best for him! Truth is, I had no freaking clue how many calories he was consuming while hiding.

He plays, he doesn't like to sit, he'd be outside 24/7 if we let him. He plays so much and so hard sometimes he's down for 2 to 3 days energy and physically because of pain! He can't play certain sports because of his low tone in his trunk area, so he can't be like the girls and involved as heavily in sports. Kids are starting to notice his "differences " while he's also noticing and trying to keep them secret because he's embarrassed!

Here's where I BEG you to educate your children, have them be a leader in supporting their peers that are not "typically", because this does start at home! It feels good to get this off my chest, share with others and just letting you know that your NOT alone on this journey! I SEE YOU, I SEE YOU MOVING MOUNTAINS AND TAKING CARE OF THEM SPECIAL KIDDOS! Much love to you and that's all for now! - Stina

When you've been sick since 1am and already set up the hospital room downstairs, dad carrys a bed down so momma can keep a close eye on him while he sleeps. Trying to break his 102.7 temp and hopefully he can sleep this evening. He's talking alot in his sleep while his fever is high.

Nothing like your kid wanting to do a sport and you have to break it to them that it will probably never happen due to his medical conditions.

He's starting to realize that's he's not the typical kid his age. Going to look into some sports that he can do to find new things.

So much going on in this house the past month! Bill turned 8, and he loved his simple day celebrating him! Liv is now seeing the same Cardiologist as Bill and his pulmonary team. It seems she has bradycardia and sinus arrhythmia discovered before surgery this past fall. She had an echo done and it looks good. She had pulmonary functions test done and needs to start using inhalers again. We go back in a couple of months and she will most likely need a pulmonary test that involves the treadmill. If anything is seen then she will wear a 30 day heart monitor.

Bill tested positive for COVID-19 in Jan (we all did), but it's caused some extremely dangerous high heart rates periodically. So he's currently wearing a 30 day heart monitor now. Today we had a genetics appt and they want to run another analysis on his tests 4 years ago. Of course this will be the summer before we know if they've discovered anything. He's still waiting on his new cpap to be delivered! We're still waiting on results from Baylor Genetics Team.

He's being tested for some other conditions as well but I haven't taken him to the lab to get the blood draws for it, and I don't know when I will do that either. It's like a funk I get in and I have to dig my way out of this medical and constant thearpy appts and procedures crap, and build up the strength to subject him to his fear of blood draws etc. I did take the time to see the chiropractor today and it was amazing! Once I get Bill and Liv squared away a bit, I'll be taking Bill to the chiropractor too! It's helped Livs migraines so much, and it's proven she gets alot more without her adjustments.

Bill was finally targeted for the waiver program and this should open up some avenues for other fun things for him to do, as well as help us a bit financially with his supplies he needs for tolieting etc. Easter Seals opened up their sign up for the Bike camp this summer and I signed him up for that.

This is all for now, just remember be their biggest advocate, make those doctors prove their thought process and think outside the box always! Don't allow them to just make you a chart!

Added a new piece of equipment this week. So thankful for amazing medical insurance and being able to monitor Bill during COVID-19 and at night when he sleeps. This is his oxygen levels with a breathing treatment on board at the same time this is being taken. Kids so used to breathing shallow.

Still waiting on his muscle biopsy results from Baylor.

It's been a minute since I updated this page and I put the Philly trip on my personal page, most follow that but I like to keep the emotional stuff here, where the kids don't have it blasted in their face.

Test Results posted for the pleminary labs that are ran in house at CHOP. I immediately log in and try to pretend I'm a genetics counselor. I Google words to see what it is and I literally read tons of articles and start to compile my list of questions. I've walked away from the computer twice because I'm literally starting to get consumed with this specific sentence. Which could mean absolutely nothing, but it's never been mentioned and it's never been detected.

"There are rare, degenerated mitochondria and structures such as , T-tubules vacuous, membranes whorls and myelin-like- figures"

That specific sentence means what? Mitochondrial Disease is rare, so now he's more rare? I got two salivia kits in the mail last week and apparently they're for me. They use them to compare my DNA to his, since this is passed down on the mother's side. I hope they call me to explain it, but I'm sure they'll wait wait all the tests because they don't like to worry you for nothing.

We're told the other 3 samples should have results back by February, fingers crossed for sooner. I do ok, until I see something like this and now I put on my medical cap 🤕🤔🤔🤪. I keep telling myself, he doesn't know what he has and he's living his best life so that's what matters. He doesn't know anything beyond "special lungs and a special belly". Ok.... now it's time to breathe....!!!

It's Mitochondrial Disease awareness week and I've been meaning to post about wearing green on Friday for Bill and all of his Mito Warrior Friends. Life's been a bit crazy around here lately and I just spaced what week it was, until a message came from CHOP about our upcoming appt.

They have decided to do a muscle biopsy on Bill to send it of for testing while out there in a couple of weeks. It's something we've held off on doing simply because it's invasive and we felt we should do everything possible to prevent this. It's just going to provide so many more answers, and possibly other diagnoses. While we make his final plans for this surgical procedure, I'm going to ask you to light up FB on Friday for Bill and all those fighting this invisible disease! Below are the instructions for how to show your support!

💚 Wear A Green Shirt (any shade will do)
💚 Post a selfie to YOUR page, tag me in the photo
💚 AND
💚 smile big in those selfies and advance thank you for supporting and bringing awareness to this important cause!!!

And here we are a year later waiting on more results and asking so many questions! Pulmonary appt tomorrow and we will see what his levels come back at breathing wise. They call this PTSD when you start to black out with information like this, it's when a moment takes you back to one of those traumatic moments in life immediately.

Andra Day - Rise Up [Audio] "Rise Up" by Andra Day, from the album 'Cheers to the Fall' available now. iTunes: http://smarturl.it/CheersToTheFall Apple Music: http://smarturl.it/CTTFApp...

Today's the day for Bill's long awaited dental surgery! Sedation and Mito are just not two things that you take lightly, keep Bill in your thoughts today! This momma is a nervous wreck and just wants it to be over with and him be his crazy little self.

It's been a minute since I've posted, but all is well right now. Bill is sick with the croup, but it's only caused low oxygen levels on Friday night.He is learning how to count his breaths before the next puff of inhaler. He may complain here and there about having to take time to do all these meds/treatments, but he is a champ!

CHOP is running Bill's Whole-genome sequencing tests again with the blood and skin samples they already have and we should get results around the end of July. Since Bill's prginal test, about 800 new variants have been discovered. If this doesn't come back with anything more that we already knew, it's time to talk muscle biopsy in Oct over fall break. An explanation of the test is below.

Liv and Bill only have 8 days left of school and then we have a fun summer filled with traveling! Couple of weeks downtime for vacation, then some softball weekends away and nationals. Fingers crossed we can get maybe a beach vacation in after nationals and before school starts.

That's our update, fingers crossed he stays healthy!

"Whole- genome sequencing can detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants. Due to recent technological innovations, the latest genome sequencers can perform whole-genome sequencing more efficiently than ever."

Don't give up, get a team that doesn't either and even though the waiting can feel like an eternity, they give me hope for answers. I love that they're taking the least invasive approach and have went through his medical chart so extensively. They emailed today and are calling me to go over this paperwork and get the ball rolling on his re-analysis.

Today I called the lab that preformed our mito urine heteroplasmy test. They sent the results on Jan 13th to CHOP. We haven't gotten the results reviewed with us, it disappoints me that I had to be the one to ask for a call. I've not been unhappy with them yet, I wish medical staff would remember how us parents sit and wait for these results. How we anticipate the outcome or them and will this bring more answers or not.

Bill has tested positive for COVID-19. I have also tested positive for COVID-19 (his mom). We knew it could happen, and are just keeping a close eye on him and monitoring every symptom that he is having. So far, he is kicking butt and I will keep this page updated on his progress! Send us your good vibes and thoughts of healing for my boy.

Bill had his EEG today, fingers crossed he hasn't had any change, but at the same time information on why he punctured his lips in three spots while sleeping. I hate this constant battle of unknown, but I'm thankful that he continues to battle anything tossed his way! We're also awaiting the results of the genetics urine screen, hope this keeps us from having to do a muscle biopsy.

EKG looked great! Echo looked great! PMCH Cardiology Dept is the place to take your kiddos! Bill has a very high heart rate when resting , sleeping and it will jump drastically in seconds. The doctor said he thinks everything looks good and even did the echo immediately in the office to make sure before we left! He's going to work with the doctors at CHOP, but thinks we can repeat echo each year and ekg and just keep a close eye on him to make sure he doesn't develop cardiomyopathy due to his Mitochondrial disease.

Today Bill had an emergent visit today with his neurologist. I'm pretty sure he had a seizure early yesterday morning and punctured his lip with his fang teeth. It's possible he had more than one and for now we're going to set up a camera on him at night to monitor his movements. EEG will be done and we will wait for results, we have thought for about a year he is having some at night, but nothing this violent or coming with the sensory overload this has caused the last two days. I wish I had an inside sensory room again today!

Today I'm thankful for a team of doctors here in Indy that have helped Bill since returning from CHOP. Bill had another visit with pulmonary and they feel it's time to see a cardiologist at PMCH, to see why he's tachycardia. This has been something I have mentioned a few times and it's constantly ignored, but with notes from PT and Speech and myself keeping a log of his HR and their notes at each visit, it's finally being looked into futher. I just love you my sweet boy, you can concur anything! 💙

Bill had a virtual CHOP appointment in July and they wanted to run urine heteroplasmy testing, but it has been a battle with insurance! They would rather a more invasive muscle biopsy, and we choose not to all this to happen. We will wait for the kits and he and I will be tested soon! One step closer in this genetics journey for more answers!

Did you know that an insurance company can tell you that your child who quits breathing while sleeping, that they can't have a machine paid for unless it's caught on a sleep study. I say this because kiddos who have low tone, deformities in there airways don't always show on a sleep study.

Bill's pulmonary team performed some tests in June and fought for this cpap. Since getting it in August, he has proved he needs it! For six years this poor kid has struggled on and off and doctors just brushed him off! His entire airway collapses, he has deformities on the inside not visible to the human eye.

The first photo is the hrs he slept with the machine ( I wake constantly putting it back on him), the second is how many times he stops breathing on average in an hour, the third is the mask fitting percentage. I've seen the AHI be as high as 11, and as low as 2.3. There is another setting for peridoc breathing, and thank goodness it doesn't happen every night, but it does happen. Fight for your kids health, surround yourself with a team of doctors that care and think outside the box! Stand up to your insurance and ask who the f**k made you a doctor? Fight fight fight

What an amazing, positive young lady dealing with this horrible unknown disease called Mitochondrial Disease! The mother in me sees this as my worst fear come true for Bill, but I admire her resilience and strength.
https://youtu.be/b-mU2FRRUEA

Ellen Introduces Us To Her Friend Julia Ellen welcomed her pal Julia Lippman, a 21-year-old who was diagnosed with a terminal mitochondrial disease five years ago. Julia met Ellen recently and the ...

Bill woke up with a runny nose, a bit of a cough from that nasal congestion. His cpap showed he only got 3.9 hrs of sleep last night, but I woke up and he had it off in the middle of the night. You can see in his eyes he doesn't feel well, and I'm trying not to freak out. Please understand that even the flu is dangerous for Bill, so a virus that nobody knows about is a tad bit overwhelming!

Tempature Checks
Oxgen Saturation Checks
Begin now, every two hrs or more. I'll be ordering a 5 shot expresso tomorrow.