RARE

It is World Rare Disease Day today. It has been a lazy Saturday around here after an intense busy week, so not even "wear jeans for genes" got me out of my sweat pants today. I contemplated putting a pair of jeans on Jacob, but he needed his thick cozy fleece pants with the cold temperatures still lingering in the air.

As I was having my third new favorite cup of coffee with milk, coconut oil and honey of the day, and sat down to prepare for Children's Hospital's ethics conference next Friday, I got to think rare. I am sitting on a Grand Rounds panel to discuss genetic issues. I will open with my reflections on genetic information being on this journey with my boy for nine years. It has been a long nine years when I think back about the number of tests and biopsies Jacob has gone through. It has been a long nine years when I think about how long it takes to get back each test result. It has been a long nine years when I think about how slow research is moving forward when you do have someone you love who is impacted by a rare disease without a cure. Don't take me wrong, a lot is happening within Mitochondrial research, but you always wonder how much your own child will benefit from it. Will he still be around to benefit from it?

A week ago, I got to meet with a friend's sister and her son. They are 5 months in to the journey of rare disease. The doctors are suspecting a mitochondrial disease. There are so many questions and so few answers. A lot of things to rule out. So many tests for a little baby. A worried mom traveling down an unknown path with her baby. And this is when I realized that rare has become pretty known and familiar in my house. Or at least as comfortable as you can get in the space of rare disease without a cure. When I got the question if Jacob had gone through a cardiology workup as a baby, I honestly couldn't remember it. Jacob's first year of life is a blur of doctor's appointments and tests. I can remember too many EKGs and echos over the last nine years, but I can't remember the first workup of his heart for my life.

So, this year's World Rare Disease day I dedicate to all parents who are just entering this journey. It's overwhelming and devastating to realize your child fits into this category of diseases. Research is too slow when your child's future health is at stake. But rare can also be so very beautiful inside and out. That is what I always hang on to when Jacob's rare disease takes over our lives.

One of my favorite pictures of rare and beautiful.

Happy World Rare Disease Day!

Love, Maria.

A LITTLE BREAK

Today we have a snowy day in Colorado. It's a perfect stay at home day. Sarah invited three of her friends over for pizza and a movie, and I am hearing lots of giggles! Jacob was supposed to have music and art therapy, but decided to sleep through art and have nurse Shereen and Sarah do all the work! Music therapist cancelled, so it turned into a quieter day with no school due to President's Day.

Despite today's snow, we have had glimpses of spring over the last couple of weeks. We have had temperatures shy of 70 degrees and perfect days to venture out on walks, and to places we like around town. This is the part I so enjoy about Colorado. We always get little breaks from winter, something I didn't know growing up in Sweden.

Our boy has also gotten a break over the last couple of weeks. Jacob is looking good again! His tummy has settled, and we are not dealing with ulcerative colitis or dysmotility. We know this can change any day, but for now we're enjoying it. It makes for a much happier boy, and it's so much easier to be out and about when you don't need to pack diapers and clothes for a couple of blowouts. The worst part of Jacob's GI issues is not the messes it creates, the worst part is the pain that comes with it. I honestly hate when my boy is in pain. Some days, pain medications work. Some days not so great. I can gladly say we haven't even used Tylenol on most days lately. This is a very welcoming break after Jacob's daily struggles with his tummy from the beginning of November thru the end of January.

And when Jacob feels great, we feel great. We can lower our guard a little and enjoy our boy so much more than when the day becomes a long day of medical decisions. It makes me very happy. And here are some of the things Jacob has been up to feeling great:

A day at the zoo with friends:

Farewell party for our friends Andre and Duke:

A stroll through Botanical Gardens:

Next week, we are having a care conference with all his main specialties about Jacob's GI issues. As they spiraled over the last couple of months, we felt we needed to get everyone at the same table to talk about how we can give Jacob the best quality of life despite him having to fight colitis and dysmotility on a daily basis including two PICU hospital stays in the last three months. I am not a big fan of care conferences. It's not the care conference itself, but the fact that we need one. You only schedule a care conference when you know there are difficult decisions ahead. If things are straight-forward and you can work with one doctor only, there is no need for a care conference. In Jacob's case, it's never just a GI issue. His GI issues cause adrenaline insufficiency and seizures. The solutions to improve his GI issues are never straight-forward answers, since all solutions come with side effects. I am not sure what the outcome will be next week, but I do feel better going in to the conference if our boy is doing well.

Wish us luck,

Maria.

BIRTHDAY WEEKEND

Jacob was turning 9 years old last Saturday. 9 years old! How did this happen? As always, Jacob is keeping us on his toes. Friday night, Jacob's stool output reached 1 liter (!) for the day. That is hospital stool level...Our plan says to call GI when Jacob stools out 1 liter. A call to GI Friday night means an automatic ticket to the ED. A visit to the ED is an automatic ticket to the PICU and a birthday weekend in the hospital.

Jacob looked good despite his output, so we decided to execute his new stress dosing plan overnight to see if Jacob would still look good in the morning. We can also start Jacob on antibiotics for his gut when we need it, so we did that as well.

We had big plans to take Jacob to watch the movie Paddington on his birthday, but decided to make it a day at home to make sure Jacob was doing well. It was a perfect Saturday at home. We cuddled up in the basement with movies and treats. Sarah and I had enough time to get everything ready for the big party the following day. And our boy was feeling much better!

And Jacob got a visit from Icing Smiles! This non-profit provides dream cakes for children living with critical illness. Isn't this a fantastic cake for a birthday boy's Minion party? I had forgotten that I had applied for a dream cake. The day Jacob got admitted to Children's with sepsis a few weeks back, I came home to an e-mail saying Jacob would receive his dream cake! I felt tears running down my cheeks. It was the sign I needed that Jacob would be fine. He had to come home for his dream cake! The dream cake was all eatable. The minions and Gru were made out of rice krispies treats. It was a fantastic vanilla cake with strawberry filling. Simply delicious!

Sunday it was time for Jacob's birthday party! Jacob's birthday party is one of my favorite days of the year, and I know several of our friends think the same. We know how hard Jacob is fighting for every year of his life, so this day is always a very special celebration. Jacob's birthday parties are long lasting affairs. This one lasted 7,5 hours! We made pizzas, we had tons of cake, good coffee and wine, and talked, talked, talked. The kids loved the crafts and games Sarah had planned for the day. Sarah is so becoming a "mini me" when it comes to planning events. I love to see her getting all involved with her brother's birthday party, and she sure went all the way out for his Minion party this year!

 

And this is all that was left of the beautiful cake!

Thanks to all of you coming out to celebrating Jacob's birthday and the hundreds of birthday wishes! You all made it very special for Jacob and our family.

Love, Maria.

OUR MOVIE STAR

On Monday, Children's rolled out their red carpet for Jacob. It was time for Jacob to receive his first Academy Award for best Actor. The super star of the movie "Target Zero". The movie is about what patient safety means to Jacob and us. It takes us back to Christmas of 2008 when Jacob was over dosed on one of his seizure medications. He got a severe reaction to the medication, which was not life-threatening but led to Jacob spending another 24 hours in the hospital. The error was 100% preventable and considered a hospital acquired condition. The message in the video is that we never leave Jacob alone with a health care provider in the hospital. We don't feel Jacob is safe if we're not by his side.

We didn't think much about it when we filmed this video. Joakim and I had many examples to share, and we simply had a conversation with the camera man. Nothing was prepared, we simply talked in to the camera.

The video has had an enormous impact at Children's. All employees and all new hires have watched this 15 minutes long video as part of their patient safety training. We have turned into "celebrities" inside Children's. Staff ask us all the time if we have been in a video? Some people simply can't place us, but think they know us. Some staff is a little scared to care for Jacob, since we have not just had good experiences. They are afraid Jacob will experience another medical error on their shift. For most of them, we are the "Target Zero family".

The hospital has over the last 1,5 years trained over 6000 people on patient safety strategies, but the one piece that made all strategies real is when Jacob shows up on the screen giving a face to medical errors and preventable harm. It's a kid who many of them have cared for, and just shouldn't experience any harm.

But the work doesn't stop here. Patient safety is very close to my heart, and this is one of the areas I continue to be involved with at the hospital. My mission is that every family walking through the doors of Children's Hospital is the "Target Zero family". Until this happens, there is still work to be done!

But let's first pause and cheer on our little movie star!

Have a great weekend everyone! - Maria.

COMING HOME

All week we have been asked by family and friends, if Jacob made it home from the hospital. As soon as they hear the positive answer, their faces lit up. They are so happy Jacob is home! We ARE too. There is not many things that exhaust me more than having to see him as sick as he was in the Emergency Room two weeks ago. 

But being home doesn't mean Jacob is back to normal. I sometimes struggle to answer the follow up question: "how is he doing?" I see the bright smiles and everyone wants to hear the good news. I sometimes struggle on how to best answer that question. For Jacob to be home would mean for most other kids that they would still be in the hospital. Over the years, Jacob's room has turned into a mini hospital, and we take him home as soon as he doesn't need intensive care any longer. It is part of our quality of life decision for him. We know Jacob will always do better in his home environment as long as he is medically safe in our home.

Coming home from the hospital means that Joakim and I often are pretty exhausted. We have fallen behind on work and chores around the house. There is a lot of catch up to do in the middle of Jacob needing more care than his baseline. This past week, we have changed and measured more diapers than I would be able to count. Jacob has had the diaper rash of this century. We monitor Jacob's vitals constantly to make sure he can hold his body temperature and oxygen level up. We have done more laundry each day than we typically would do in a week (and we do lots of laundry around here). We manage Jacob's stomach pain. I have Jacob's GI doctor on speed dial, and med changes are a daily task including running to the pharmacy for new prescriptions. Sure enough we also had two days at Children's for already scheduled doctor's appointments we couldn't pass up on. But who wants to truly hear all that? It's exhausting.

So, why do I write it hear? Maybe because I might not never really tell you face to face how it truly is when we get home. I do want your smile and I do want you to root for my boy, who by the end of the day is the one who does the heavy lifting around the house. It is a lot of work being Jacob, and he always, always does it with grace no matter what the day brings him. And then the hard days turn into better days. Today was a beautiful day in Colorado, and Jacob was suddenly warm instead of cold. Jacob's color was "Jacob perfect", and he gave me his quirky smile right before bed time. He is starting to feel a little bit better again, right in time for his birthday week.

Jacob rooting for his sister playing in a volleyball tournament today! Yes, he's taking a nap after literally staying up all night...

Love, Maria.

TEAM MAXX ROOTING FOR JACOB

This morning when I walked in to Norco volleyball facility in Windsor, I was met by girls in white t-shirts saying Team Jacob in green and with the Mitochondrial symbol in the middle of the Maxx volleyball symbol. I still felt weak from my stomach bug, but a wave of emotions came over me. My girl was standing surrounded by girls all rooting for her brother and she had this big natural smile on her face! She wasn't alone in worrying for her brother, she had her whole volleyball club rooting for him.

As the day went by, I had so many parents coming up to me and asking about how Jacob was doing. Wherever I looked I saw Team Jacob t-shirts on players, coaches and parents. It gave me hope in a middle of a very scary week, and this comforting feeling that we will be ok no matter what. We are not alone in this, and no matter how many years we have traveled down this path, support and love are what we need. It's what feeds our souls.

A week that started in tears for our girl ended with her not being able to stop chatting on the way home from the tournament (despite her loosing all games today!). She was happy and it felt really good for her to hear that all her friends were rooting for her brother and sharing her joy that he was coming home today.

And our boy came home today during Sarah's last game! It felt much longer than six days this time. Jacob is a very tired boy right now. He has been through a lot, so I try to not worry too much about how much he's sleeping. It's easier said than done, but I will try. His tummy is not completely healed, but we're hoping we are able to manage it from home.

I sometimes hear "it's just a job", "it's just a game", "it's just business", but when we limit things in our lives to just be a task in our daily lives we are missing out on the really good stuff in life. Maxx volleyball club showed me today that they are not just making great volleyball players out of our girls, but they are truly here to be a community of support with big hearts. Every player in that club got a little insight today what it means to have a very sick brother in the hospital, and not knowing when he will come home again.

Sarah has another early tournament tomorrow morning, so good night from all of us!

Love, Maria.

A VERY BUSY 24 HOURS

Jacob has had a busy 24 hours. Jacob's belly has once again given him some serious trouble. He has been distended for over a week, and had been on antibiotics for bacteria overgrowth. This particular antibiotics didn't do a thing for him. As the days went by, the tummy got larger despite going, and this weekend Jacob was lethargic and seizing. This is something we have seen with tummy issues before.


The fact that Jacob has adrenaline insufficiency makes me really nervous. He gets so very sick, so very fast. All day yesterday, his nurse Shereen monitored him closely. I was on the phone and messaged with Dr. E., his two Dr. Cs in neurology, and his GI doc about him having seizures and being lethargic. His GI doc put a plan in place with outpatient abdominal x-ray, stool sample, and a new course of antibiotics. As I had Jacob all ready to leave, his body temperature had continued to drop and he just didn't look himself one bit. I decided to go south instead of north to the main campus of Children's.


It was a smart move. They initiated their sepsis status on Jacob the minute he rolled into the trauma unit. All kinds of labs were drawn, x-rays were ordered, stool and urine were checked, IV fluids were started as well as 3 different IV antibiotics and IV steroids. They needed more lines than his medi-port to get all the medications in fast enough. At one point I hear his nurse having a fit because the steroids hadn't arrived: "I don't want Flagyl, I want his steroids. The antibiotics won't save his life, the steroids will". After nine years with Jacob, it is still a bit surreal to have Jacob be part of the sepsis protocol. They do a beautiful job in the ED. It is just that you don't want YOUR kid to be the one needing all their attention, but this is how they save lives.


To our surprise, we got a diagnosis right there in the ED. It never happens with Jacob! There are so many possibilities and options and we sometimes never find out why he is so sick. This time, we found out he has pancreatitis. Where did that come from??? After Internal medicine reviewed his labs, they didn't want to call it pancreatitis. His pancreas is inflamed, but they didn't want to give him the actual diagnosis. I don't know how much the pancreas caused Jacob pain, but if it is something that makes Jacob lethargic and seizing these days - it is pain. His belly is still like a big balloon. GI is not sure if we're dealing with the beginning of yet a ulcerative colitis flare up or really bad dis motility. They are leaning towards the latter. He is on IV fluids to give his gut a rest. He is on 3 IV antibiotics and IV steroids to cover him for both.


24 hours into our hospital stay, Jacob actually looks pretty good. He slept most of today, but he perked up when sister came to visit late afternoon. He has been awake since then. His vitals are stable, and something is making him feel better. I still feel we have many unanswered questions.


I am exhausted. I ran off to the hospital yesterday with little to no warning. Joakim packed his bags later, and slept with Jacob in the hospital last night. I went home to my girl. She really took it hard this time. Before I even arrived at the hospital, she had texted me wondering if I had any news. The minute she came home from volleyball practice she asked if she could come and see Jacob today. As she got ready for bed, her tears were rolling down her face. I had to lay with her in bed as she cried herself to sleep. There is nothing she doesn't understand about Jacob's condition, and I could see that she had that unspoken question if this was it for Jacob. I had no answer, since I was asking myself the same question. I knew he was fighting very hard for his life.


Tonight, he looks a ton much better than last night. We're on "Jacob time" now, and he will guide us through this as he has so many times. We are of course always hoping to soon be home under the same roof again, but tonight I'll take that our boy has responded to the medical treatments.


Good night, Maria.