HAPPY 4TH!

I came home from the hospital in time for 4th of July. This is the first year I was participating in our neighborhood bike parade. I know you can't see it in the pictures, but I was actually taking a snoozer on the bike. I am glad daddy kept us on track.

4th of July is not just our Independence Day, it is also Selina's birthday. I missed her birthday party earlier this week, so it was extra special to spend her birthday with her. Look at her birthday sign!

We had fun hanging out in the garden.

We had a great BBQ, and look at the cupcakes Sarah and I baked and decorated for Selina!

I continued working on my bucket list this week too. I got to go to the movie theatre! We watched "How to train the dragon 2". I have read the first book, and watched the movie many times, so it just made sense to watch the sequel. Mom and Sarah were holding me, and we just had a big cuddle feast!

Unfortunately I don't feel so great tonight again. I am having a bad cold. I hope it doesn't mean another trip to Children's this weekend. Tonight and tomorrow will be telling. Keep your fingers crossed I can stay home this time.

Love, Jacob.

STEROID DEPENDENT

We’re back at Children’s again as of yesterday. Since our last hospital stay almost 3 months ago, we have been working with GI and Endocrinology to wean Jacob off his steroids. We have tapered the dose slowly each week, and Jacob was doing great. No sign of colitis or adrenaline insufficiency.

Well…until this last week. We were on an all-time low level of Prednisone, and Jacob started to show little signs here and there of not completely agreeing with the steroid dose. He was not sleeping well, his heart rate was higher than normal, he needed oxygen during the day, and he had more myoclonus. Saturday night, Jacob had insomnia. Nothing could get him to fall asleep. In the morning, he had elevated heart rate and needed oxygen. As the day went by his blood pressure started to drop…I gave Jacob his first injection of stress steroids, and it was time to take a trip to the Emergency Room.

The reason Jacob has adrenaline insufficiency is that his adrenal gland is asleep. This can happen to anyone who has been on steroids long-term. His adrenal gland is not producing adrenaline and cortisol right now. This means that any time Jacob’s body is under stress, he is going to need higher doses of steroids to help his body to fight. This is what is called stress doing. As soon as you open up Jacob’s medical chart, it pops up a red flag telling the team he is adrenaline insufficient.

Our hope and plan was to slowly taper his steroids and wake up his adrenal gland again. The doctors had predicted that if Jacob’s body wouldn’t agree with this plan, we would see signs of adrenaline insufficiency in about a month. As always, Jacob doesn’t follow any typical plan, so yesterday was the day.

The good thing is that he is not sick. All the labs and tests are coming back negative. On the other hand, this means that he became adrenaline insufficient from not getting enough steroids this time. Our boy is officially steroid dependent.  Yep, that sucks. It is not good for his already low immune system and for his bones. It is yet a medication to add to his list of permanent medications. The plan is now to find the lowest magical dose Jacob can safely be on.  We also have a new plan for stress dosing, if Jacob gets sick and we will continue to have hydrocortisone injections wherever we go for true emergencies.

I am actually taking it pretty well, and so is his medical team. In the big scheme of things, we can live with this. If this can keep Jacob from getting into adrenaline shock and his colitis at bay, we are fine. Being in the PICU is also always a reality check.

The plan is to remove the IV antibiotics by midnight tonight. We will discuss the exact steroid plan during rounds tomorrow. If Jacob behaves, we should be discharged straight from the PICU tomorrow!

Jacob also got to play astronaut for 30 minutes today. This is a new test only available in the PICU. It measures your exhaled gases, and the test determines exactly how many calories you need. Jacob is getting about 150 extra calories each day right now, so we will be cutting his daily intake down a little bit. This explains his steady weight gain, and everyone agrees to keep Jacob lean and healthy.

Jacob has his best friend’s birthday party tomorrow. We are not sure we can make it, but we will try! We also have a week off from school, so we are hoping to check off a few things from Jacob’s summer bucket list.

Next Tuesday, we are back at Children’s for ear tube surgery and dental work. We are hoping it will be another short stay in the PICU!

Until next time,

Maria.

A LOVE LETTER

After four years of having nurse Libby be with Jacob at night, it was time for her to move on to new adventures. Four years in the home healthcare is a long time. It was four years of good sleep for us, and four years of Jacob being completely safe at night. It turned into a deep friendship, and a love story for Jacob. Here are Libby's last words to Jacob.

Dear Jacob,
It's my last week of spending nights with you and I miss you already.

For the last four years, you and your family have been a gift in my life. I can't believe I've seen you grow up from 4 1/2 to 8 1/2! You are one strong boy!

When I first started spending nights with you it was much different than today. You were having many seizures in the night and I was constantly medicating you to try and make you feel better. Now you rarely have a seizure and sleep pretty well for the most part. I mean we've had our special time in the middle of the night when you've decided you'd rather play than sleep. But a little night play never hurt anybody and I've loved hanging out with you.

I'll miss the sounds of the night in your room. The sound of the pump, the sound of the oxygen concentrator and the sound of your breathing with the bipap on. The alarms, when your heart rate gets above 130 or your sats dip below 85. And of course your sounds. The big sighs that sometimes come out of nowhere, signaling that you're doing ok or that you are on the other side of something that was bothering you. The gurgles that may mean you need suctioning. Or those early morning squeaks when you are waking up for the day. I'll always think of you whenever I hear those sounds, reminders of our nights together.

Sunday nights were always the most fun because we got to do some "day" stuff while we were hanging out together. We got to read the endless supply of great books. We listened to music and Broncos games. We sang songs. We even got to do crafts!

I'll never forget how you loved hearing Mary Poppins sing Go To Sleep although it never really did put you to sleep! No, you slept on your own terms, when you decided it was time. Usually it was around 8:30 but sometimes it wasn't until midnight! When you woke up, at 10 or 2 or 4, you would stay up as long as you wanted to, waiting for just the right moment to fall back asleep. I loved that about you. You operated on Jacob time and despite how hard I tried, you were always in charge.

Gemma wrote about getting "The Jacobs". I know exactly what she meant because the first time I met you I was smitten. Your energy was contagious and I knew that we would become fast friends. I will always be grateful for that friendship. More than any other.

Of course I'll miss your family too. Sarah and her giggles (one of the best ticklers I know); Joakim and his handiness (I'll never forget the night he was in Sweden and Maria and I could not get the fire alarm to stop beeping and we had to call him to get instructions on how to make it stop!); and your candy loving, get-the-most-out-of-every day, wonderful mom, Maria. How lucky you are to be part of this awesome family!

Jacob, you've taught me how to be present, to be patient and enjoy each moment as it comes. You're taught me how to live my life fully and how to be loved. You've given me so much joy my friend.

Although we won't be spending regular nights together, I'll be visiting and spending some awake time with you. It will be different, of course, but we'll still get to hang out and chat about the old days! In the meantime, you be good and sleep well.

Lots of love to you,

Libby.

P.S. Unfortunately our boy is sick tonight. He has adrenaline insufficiency and cortisol deficiency, and we had to give him an injection of hydrocortisone at home today. We then brought him to the ED. He is tonight resting in the PICU. Antibiotics have been started, and he is on a high dose of IV steroids to help his body produce cortisol and adrenaline. We will keep you posted, and hoping we will be home very soon again.

THE GOOD AND THE SAD

It's me. Mom is busy biking and making sure sis and I get to where we need to be this summer. We are on the go a lot! Here is one tired mama.

I better give you an update before the summer is over...So, let's start with the good stuff. My summer is going by really fast. I am back in school with Mrs. Pries again. I love school, and making new and old friends. I have a great para  helping me with my school work, and Gemma is making sure everyone does what they are supposed to do. Sis also got to come to school with me. She will never admit it, but she likes coming to school with me. She thinks all of my friends and I are kind of cool as we all communicate with our talkers.

School is tiring though...I just had to take a nap!

There is no summer without the pool! I can't think of many better things than a big fun play date at the pool.

And lazy mornings with sis...

I am also pretty excited about my Father's Day gift this year. Take a look! I created my superhero dad with my foot and hand. I then used my talker to say how awesome my dad truly is. He was pretty excited about the gift.

But I am also really sad. My Libby is leaving for another job. We have spent the nights together for the last four years. She has taken so good care of me, and I am never alone as I am awake in the middle of the night or when I decide to wake up really early. She talks and sings to me, and she always, always makes me feel special. I will miss her so very much. Mom is saying we're all going to be "sleepless in Broomfield" for a while.

Our Mito community has also been hit hard lately. Mom looked so sad. Sis was checking in on my buddies several times a day. It made us all feel vulnerable fighting this devastating disease each and every day. My family hold me a little tighter as my buddies were fighting so hard. I think tonight we don't have a single friend in the hospital. Unfortunately that has been the rare occasion this year.

And with that, I am going to try to enjoy every bit of this summer. I have created my own bucket list for the summer with the help of Mrs. Brittany. I want to go to the movies, to the park, and I want to go out to eat. I want to spend as much time as I can outside, and I want to be on my bike. I also want to see baby Derek. I even throw in some homework into the mix. I better get started on my summer list.

Until next time!

Love, Jacob.

10 TAKEAWAYS FROM THE UMDF CONFERENCE

We all had a wonderful time at this year's UMDF (United Mitochondrial Disease Foundation) conference. This year's destination was Pittsburgh. We had packed days of learning, meeting up with new and old families and doctors, and some well deserved time with our own community of Colorado Mito moms.
Here are my 10 takeaways from the intense conference days:

• Knowledge. There is a wide range of presentation topics during the family meetings. There are three tracks running simultaneously tailored to children, teens, and adults living with Mitochondrial Disease. I always leave with a laundry list of things to follow up on, everything from possible new seizure medications and other possible treatments.
• Research. UMDF's mission is to facilitate and support mitochondrial research. The only treatment option mentioned in 2007 when I attended my first conference was Coenzyme Q10. Today, there is not enough time in the opening session to cover the details of the ongoing clinical trials and studies for Mitochondrial disease. It will take time, not all options will work for all patients, but there is forward movement. There are actual drugs in clinical trials, and if everything goes as planned, epi-743 will be FDA approved in 2015. The research is giving us all hope.
• Connections. It is always the people who make the conference a success. In the middle of this life-threatening progressive disorder, there is laughter, fun and hope. This disease connects us. One thing that makes this conference unique is the way doctors and families interact. We ended up having two Mito specialists at our table Friday night. After dinner, we spent the rest of the evening talking Mito with our own local Mito researcher and the doctor who saw several of our kids back in Cleveland when they were only little babies. Very smart minds all in one room.

• The Mito doc is in. One of the best parts of the conference is that you can meet with Mitochondrial Specialists from all over the country and discuss your own child or your own diagnosis. Since many patients can't easily travel to specialists around the country this is a great way to get second opinions. I left with a lot of good stuff to further research when it comes to GI issues, seizure medications and labs to run.
• Teens. There is a whole track of presentations for teens living with Mitochondrial Disease. The teens had a blast together. They were raising around the hotel on their scooters. They were all dressed up for the Friday banquet. After dinner, they all headed up for their own prom in their beautiful dresses and big smiles. It is hard to be a teenager. I can only imagine being a teenager living with Mito.
• Our booth. For the first time, Miracles for Mito had its' own booth. We got to tell people what we are all about. We showed them our videos. We gave out our information. More than anything, we got to listen to people tell their stories. It was one of the best parts of being there.

1. 

• Our t-shirts. Our first Miracles for Mito t-shirts were a hit! People from all over the country want to wear one! We are hoping to very soon have them up for sale on our website.

• Pittsburgh. Pittsburgh is a beautiful city! To sit next to the water watching the sky line on a Thursday night with a lovely group of ladies is definitely something to remember. The city reminded me of the Southern part "Sodern" of Stockholm with its' hills and water. It was good to be back on sea level.

• Mito moms. We were five Mito moms attending from Colorado this year. We shared excitement and new knowledge with each other. We ran the Miracles for Mito booth together. We ate, drank, slept and shared our thoughts on the new things we learned. We enjoyed the Sheraton lounge together. It was good to have the support of old friends as new information and ideas were thrown our way.

• Confirmation. The conference was also a confirmation of the work we do for Miracles for Mito. We have come along way in less than four years time. The community we have built up in Colorado. The grants we are able to support families with. The ability to keep the Mitochondrial Research Lab open are only a few things on our list of accomplishments. We are doing good work, and these last couple of days have given us new fuel to continue on this path!

There are many memories made in a short period of time. I leave you with a photo of this beautiful boy Sam. His parents laughed and cheered Sam on every time he smiled. That smile will rock me to sleep tonight.

Love,
Maria.

JACOB'S ZIPLINE

I posted this picture on Facebook a week ago as Jacob was trying out his own zipline for the first time.

The photo of Jacob in his ceiling lift track system generated excitement, curiosity, and questions. I thought it would be worth posting about our process to receive the lift and how it is working out so far.

In July of last year, I went down to Accessible Systems to talk to them about possible lifts transporting Jacob from room to room, so we wouldn't have to lift him for every transfer we do. Nurse Gemma's pregnancy was the driver behind us starting looking. We knew she wouldn't be able to carry Jacob throughout her pregnancy, and we were hoping to find a solution for her.

As I was trying out the different ceiling lifts in the show room, I remember feeling a little bit sad. It was time to realize that our house had to be modified to a larger extent than our bathroom modifications and stair lift for us to take care of Jacob. No matter how many ceiling lifts you look at, they are not pretty. But as Gemma's pregnancy progressed, and I was doing all lifts and couldn't leave the house for more than short periods of time, I knew the time had come for us to find a solution for Jacob.

It was a long process to get the lift system approved by Medicaid funds through the CES (Children's Extensive Support) waiver. We were changing case managers in the middle of the process, which delayed the project with months. No family had ever requested a lift system in our area, so our case manager was at loss if this should be funded or not. I honestly don't know how many letters of medical necessity Jacob's doctors, therapists and nursing agency supplied. We were told we had to provide three different bids, and for the longest time we only could find one provider in Colorado who could provide a viable solution.

After a dragged out process, Jacob's ceiling lift got fully approved on Jacob's 8th birthday! Best birthday present ever.

The vendor who won the bid turned out to not be a great supplier for us. They wanted to install the ceiling lift track system by opening up our roof, which we were not comfortable with. We were back at square one. Luckily, our case manager was committed to get this approved, so she took it back to the top of Medicaid, and we could move forward with a more expensive vendor. Of course all of this happened in the middle of Jacob being in the PICU with adrenaline shock. The least thing you want to have to do from the hospital is to sort out contractors and dealing with Medicaid.

When we finally got Accessible Systems on board, the actual install happened in 1,5 days! Jacob spent the two days down in the basement, and could then move up in his room again.

It is extremely easy to operate the lift track system. It runs very smooth from Jacob's room to his bathroom and straight to his stair lift to go downstairs or from downstairs up again. There is no need for manual lifts anymore. We're all figuring out how to best position Jacob in his sling and little tricks, but we are all giving it thumbs up. We got the lift system mainly for our backs, but reality is that Jacob is doing so much better when we use the lift instead of carrying him around. Jacob is getting too tall for Gemma and myself, and it is really hard to keep his airway safe and making sure we never break a bone as we're carrying him around. I am also amazed how quickly we can get him in and out of the sling.

The absolute best part is that Jacob loves being in his own zipline. Sarah loves to take Jacob for a ride just for fun!

If you're considering a ceiling lift track system, let me know. We definitely learned a lot about working with Jacob's CES waiver program and what vendors we can recommend for future home modifications. When the time comes to modify our downstairs, we're going to be in a better position with the lessons learned from this project.

Until next time! Thanks, Maria.

RACE INTO SUMMER!

This last week has been a whirlwind of activities for our boy. We decided to have Jacob go to school every day this week, since it was the last week of school after all.

We kicked off the week with a bike race! Two Angels Foundation put on an adaptive bike race here in Broomfield. We caught up with friends we hadn't seen for a while, and Jacob also got to hang out with his para Nerma. I am always a little bit worried about Jacob's fragile legs, so we did come in last place in the race:- Sarah should have pushed Jacob rather than me. It was a warm Sunday, and an overall awesome race! We are definitely going to be back next year again.

Monday morning, it was time to race again! Jacob joined the school's fun run! It was quite a workout to push Jacob in his stroller on a bike path with kids running in both directions. Jacob's friend Liam insisted that Jacob had a popsicle, so fruit punch popsicle happened before breakfast Monday morning.

Jacob also got to race in PE. He partnered up with his Occupational Therapist Peggy. Peggy went full force to make sure Jacob could do his absolute best during his relay of the race. At one point, Peggy simply grabbed Jacob's wash cloth, put it on her forehead and ran as fast as she could!!! Peggy is absolutely part of Team Jacob, what a commitment!

Today, was the last day of school. We ended up having a large accident including bath, carpet cleaning and laundry right as we were leaving for school, so we only got to attend the school picnic for a little while. It was enough time to say goodbye to friends and to dear Mrs. Rep! We truly lucked out on Jacob's teacher this year again.

Jacob is now off for two weeks. It is then time for summer school with Mrs. Pries during the months of June and July. I am sure they will have a blast this summer again!

Love,
Maria.