Thursday, June 27, 2013
Surgery update
Owen had surgery today for a g tube placement, muscle biopsy, bronchoscopy, and brain MRI. He tolerated general anesthesia well and the breathing tube was safely removed in the PICU this afternoon. He will remain in the PICU for the next few days and I will post a more detailed entry soon. Thank you for all of the prayers and well wishes!
Saturday, June 22, 2013
Super Owen
We are less than a week from Owen's surgery date and my emotions surrounding it could not be more mixed. Yesterday at work, I was sick to my stomach all day thinking about what he was going to undertake in less than a week...and that I was voluntarily choosing these procedures for him. Owen needs to have a feeding tube placed. I know this. To place the tube he has to go under general anesthesia...and if he is going to do that, then it only makes sense to perform a muscle biopsy to rule out mitochondrial diseases. I know this. I just hate to make him go through all of it.
Pete and I brought Owen to the hospital last Monday to meet with the surgeon who will perform the muscle biopsy, skin biopsy, and work in conjunction with GI to place the g-tube. I instantly liked him and feel very comfortable knowing he will be in charge of my sweet guy for a few hours. While I can't remember his exact words, he had the ability to share with me that a large portion of the muscle in one of Owen's thighs would be removed (because Owen is so small and skinny), yet he said it in a kind and slightly joking manner; he made it less frightening in that moment and okay. Of course, now I worry endlessly about how painful the recovery will be for my little guy, but it needs to be done. I know this.
Owen needs to return to the hospital this Monday to meet with anesthesia and ENT. Owen's surgeon feels it is important for the anesthesia team to meet him prior to the surgery so they are prepared for all the fun Owen will be providing them on Thursday. Owen's airway continues to be a concern. It has been progressively getting worse over the past year and is starting to be at a place that truly frightens Pete and me. ENT has been added to help address the collapse and provide us with options. They may chose to perform a bronch on surgery day (I believe this is a scope-type procedure where they will go down his throat to ascertain exactly where the collapse is happening). I will know a lot more after we meet with ENT on Monday. Karen plainly laid out the fork in the road that we are approaching with Owen. Our first option is surgical intervention: a Uvulopalatopharyngoplasty (UPPP) and then eventually when that fails, a tracheotomy. The other option is sedation. We use medications to sedate Owen so that he does not become agitated and that will allow him to manage his airway more effectively until it collapses entirely. Can't say we really like either choice...so we will meet with ENT and hope they have an option that falls somewhere in the middle.
Owen's temperament the past few weeks has been great. He is calm when awake and seems content. This is partly why I am struggling so much with the impending surgery. We are achieving the quality of life for our little turkey right now that we are always striving to maintain. It would be a lot easier to send him into surgery if we in the midst of weeks of poor eating and intense irritability. This surgery should have happened in April when Owen was having relentless seizures and really struggling. Given his happy mood, I have been taking him out and about a lot more. Owen has been enjoying his wheelchair which makes him a lot more manageable outside of our house. We even tackled the grocery store the other day and I think he loved it!
There is a super special family living in Chicago that I have come to care deeply about via blogging. This mom reached out to me over a year ago to tell me how much she enjoyed reading about Owen. I immediately started reading her blog about her family and specifically about her son who has a very rare genetic disease. She is really an inspiration to me- her writing has always focused on the triumphs of her son and has really helped me on the days when I want to wallow in the "why me", "why Owen", "why our family" doldrums of living life with a special needs child. After a post about Owen's impending surgery, she emailed me and said she had something she wanted to send Owen. In the mail we received a personalized cape from a group called Tiny Superheros. What an amazing gift- if ever there was a super hero in our family, it is Owen! Owen happily wears his cape wherever he goes on the back of his wheelchair. I think it totally ups the cool factor for my sweet boy. We are so thankful that Owen is part of this amazing group and we immediately knew we wanted to pay the generosity forward. There is a Tiny Superhero we know who totally deserves a cape.... and it will be arriving soon!
I will try to post one more blog with the updates from the appointments this coming Monday. Surgery is scheduled for this coming Thursday, June 27th. I hope everyone who reads this blog with hold Owen close in their hearts that day and say a prayer for him. Here are a few pictures of Owen until next time:
Pete and I brought Owen to the hospital last Monday to meet with the surgeon who will perform the muscle biopsy, skin biopsy, and work in conjunction with GI to place the g-tube. I instantly liked him and feel very comfortable knowing he will be in charge of my sweet guy for a few hours. While I can't remember his exact words, he had the ability to share with me that a large portion of the muscle in one of Owen's thighs would be removed (because Owen is so small and skinny), yet he said it in a kind and slightly joking manner; he made it less frightening in that moment and okay. Of course, now I worry endlessly about how painful the recovery will be for my little guy, but it needs to be done. I know this.
Owen needs to return to the hospital this Monday to meet with anesthesia and ENT. Owen's surgeon feels it is important for the anesthesia team to meet him prior to the surgery so they are prepared for all the fun Owen will be providing them on Thursday. Owen's airway continues to be a concern. It has been progressively getting worse over the past year and is starting to be at a place that truly frightens Pete and me. ENT has been added to help address the collapse and provide us with options. They may chose to perform a bronch on surgery day (I believe this is a scope-type procedure where they will go down his throat to ascertain exactly where the collapse is happening). I will know a lot more after we meet with ENT on Monday. Karen plainly laid out the fork in the road that we are approaching with Owen. Our first option is surgical intervention: a Uvulopalatopharyngoplasty (UPPP) and then eventually when that fails, a tracheotomy. The other option is sedation. We use medications to sedate Owen so that he does not become agitated and that will allow him to manage his airway more effectively until it collapses entirely. Can't say we really like either choice...so we will meet with ENT and hope they have an option that falls somewhere in the middle.
Owen's temperament the past few weeks has been great. He is calm when awake and seems content. This is partly why I am struggling so much with the impending surgery. We are achieving the quality of life for our little turkey right now that we are always striving to maintain. It would be a lot easier to send him into surgery if we in the midst of weeks of poor eating and intense irritability. This surgery should have happened in April when Owen was having relentless seizures and really struggling. Given his happy mood, I have been taking him out and about a lot more. Owen has been enjoying his wheelchair which makes him a lot more manageable outside of our house. We even tackled the grocery store the other day and I think he loved it!
There is a super special family living in Chicago that I have come to care deeply about via blogging. This mom reached out to me over a year ago to tell me how much she enjoyed reading about Owen. I immediately started reading her blog about her family and specifically about her son who has a very rare genetic disease. She is really an inspiration to me- her writing has always focused on the triumphs of her son and has really helped me on the days when I want to wallow in the "why me", "why Owen", "why our family" doldrums of living life with a special needs child. After a post about Owen's impending surgery, she emailed me and said she had something she wanted to send Owen. In the mail we received a personalized cape from a group called Tiny Superheros. What an amazing gift- if ever there was a super hero in our family, it is Owen! Owen happily wears his cape wherever he goes on the back of his wheelchair. I think it totally ups the cool factor for my sweet boy. We are so thankful that Owen is part of this amazing group and we immediately knew we wanted to pay the generosity forward. There is a Tiny Superhero we know who totally deserves a cape.... and it will be arriving soon!
I will try to post one more blog with the updates from the appointments this coming Monday. Surgery is scheduled for this coming Thursday, June 27th. I hope everyone who reads this blog with hold Owen close in their hearts that day and say a prayer for him. Here are a few pictures of Owen until next time:
 |
| On the swing at the Early Intervention Resource Room |
 |
| Ball pit at the Early Intervention Resource Room (he didn't love it which was really surprising....) |
 |
| Bath time- I love that he demurely adjusted his leg for privacy during the photo shoot! Who knew when we bought our house how much we would love having a giant claw foot tub in the main floor bath! |
 |
| As cute as can be |
 |
| Early morning snuggles- these two crack me up! |
Wednesday, May 29, 2013
Owen Update
I took a few weeks off from blogging because I planned to write this post about Owen's upcoming surgery. Yesterday, we were scheduled to meet with Owen's surgeon to go over the details, but unfortunately, Memorial Day weekend was a rough one for a few families- and Owen's appointment had to be postponed because his surgeon was going to be in the OR all day with back-to-back surgeries. We hope they were all silly minor things like, say...oh I don't know...eating quarters....Ellie's Quarter Incident of 2012
On June 27th, Owen will have a g-tube placed as well as a brain MRI, muscle biopsy, and skin biopsy. The g-tube, for those who do not know, is a feeding tube to help support Owen's nutrition and provide another option for dispensing his many, many medications. We have strongly opposed placing a feeding tube in Owen since it was first suggested at 2 months old. Our reasoning in the early months of his life were based on the information we were given that Owen would only live for a very short amount of time. Owen has shown to us over the past 21 months that he has a lot of fight in him and isn't going anywhere anytime soon. We now view the feeding tube as a comfort measure as opposed to a life extending procedure. Owen is very thin. He does not eat enough by mouth each day to support a proper level of nutrition. When he is sick (which is often) he does not eat and we are unable to get his medication into his body. For these reasons, it is necessary to have another option to feed and care for Owen. Pete and I made this decision many months ago, but decided to wait until we had the results from the genetic testing back before moving forward with any surgeries. We were hopeful that our decision would not be a blind one- we were hopeful that we would have a diagnosis with some idea of life expectations and disease process to help guide us. This is not the case- at age 21 months, we know the same amount of information about Owen and what is wrong as we did at age 2 months.
Owen has not had a brain MRI since May 2012. The initial plan was to do MRIs every 6 months to monitor the changes in the white and grey matter of Owen's brain. Is it changing, increasing, decreasing, ect? Owen has to be sedated for the MRI because it is essential that he remain still during the imaging. Owen's airway is no longer is stable enough for safe use of IV sedation and therefore we have been unable to do a MRI for over a year now (we would not electively have Owen undergo general anesthesia for only a MRI). Pete and I are very interested to compare this new MRI to his previous ones. The MRI is really the only piece of information we have ever received about Owen that has provided a clue about his illness.
The muscle biopsy will be to rule out mitochondrial diseases and the skin biopsy will be to store more skin cells of Owen's for future testing as needed. Owen will be admitted to the PICU post surgery and his breathing tube will be remove there as opposed to in the recovery room of the OR. There is concern about being able to safely remove the breathing tube and it may take a bit of time for it to happen. Pete and I are obviously very concerned about this, but I also know that Owen has always proved my worries wrong. I wouldn't be even slightly surprised if they were able to remove it in a very routine fashion and Owen would be heading home with us the same day. With Owen...you never know...
The past month has been a trial of ups and downs with Owen. He was put on a medication that he did not react well to. We had about two weeks of screaming and arching of his body before we were able to figure out what was happening. It was rough. Immediately after that struggle, he came down with a cold. For the past two weeks he has sounded very congested in his chest and struggles to breath. We are doing the nebulizer three times a day with him, chest PT, and trying to keep him in an upright position as much as possible. The good news is this congestion is all in his chest and not his lungs.
Owen is just such an interesting guy. Each day presents differently and you never know which version of Owen will be with you when you wake up in the morning. Yesterday was one of my favorite versions of my little boy. He was awake from 10am until he got his sleep medications at 9pm. His whole day was alert, calm, and peaceful. He still struggled with congestion and breathing, but he didn't let that dampen his spirits. We went for a walk around town, swung on the swing set, and played. If only every day would be like yesterday it would be a great life for Owen.
Owen will now have his pre-op appointment on June 17th. We will also meet with GI and his neurologist on that day. I will post an update after those appointments.
On June 27th, Owen will have a g-tube placed as well as a brain MRI, muscle biopsy, and skin biopsy. The g-tube, for those who do not know, is a feeding tube to help support Owen's nutrition and provide another option for dispensing his many, many medications. We have strongly opposed placing a feeding tube in Owen since it was first suggested at 2 months old. Our reasoning in the early months of his life were based on the information we were given that Owen would only live for a very short amount of time. Owen has shown to us over the past 21 months that he has a lot of fight in him and isn't going anywhere anytime soon. We now view the feeding tube as a comfort measure as opposed to a life extending procedure. Owen is very thin. He does not eat enough by mouth each day to support a proper level of nutrition. When he is sick (which is often) he does not eat and we are unable to get his medication into his body. For these reasons, it is necessary to have another option to feed and care for Owen. Pete and I made this decision many months ago, but decided to wait until we had the results from the genetic testing back before moving forward with any surgeries. We were hopeful that our decision would not be a blind one- we were hopeful that we would have a diagnosis with some idea of life expectations and disease process to help guide us. This is not the case- at age 21 months, we know the same amount of information about Owen and what is wrong as we did at age 2 months.
Owen has not had a brain MRI since May 2012. The initial plan was to do MRIs every 6 months to monitor the changes in the white and grey matter of Owen's brain. Is it changing, increasing, decreasing, ect? Owen has to be sedated for the MRI because it is essential that he remain still during the imaging. Owen's airway is no longer is stable enough for safe use of IV sedation and therefore we have been unable to do a MRI for over a year now (we would not electively have Owen undergo general anesthesia for only a MRI). Pete and I are very interested to compare this new MRI to his previous ones. The MRI is really the only piece of information we have ever received about Owen that has provided a clue about his illness.
The muscle biopsy will be to rule out mitochondrial diseases and the skin biopsy will be to store more skin cells of Owen's for future testing as needed. Owen will be admitted to the PICU post surgery and his breathing tube will be remove there as opposed to in the recovery room of the OR. There is concern about being able to safely remove the breathing tube and it may take a bit of time for it to happen. Pete and I are obviously very concerned about this, but I also know that Owen has always proved my worries wrong. I wouldn't be even slightly surprised if they were able to remove it in a very routine fashion and Owen would be heading home with us the same day. With Owen...you never know...
The past month has been a trial of ups and downs with Owen. He was put on a medication that he did not react well to. We had about two weeks of screaming and arching of his body before we were able to figure out what was happening. It was rough. Immediately after that struggle, he came down with a cold. For the past two weeks he has sounded very congested in his chest and struggles to breath. We are doing the nebulizer three times a day with him, chest PT, and trying to keep him in an upright position as much as possible. The good news is this congestion is all in his chest and not his lungs.
Owen is just such an interesting guy. Each day presents differently and you never know which version of Owen will be with you when you wake up in the morning. Yesterday was one of my favorite versions of my little boy. He was awake from 10am until he got his sleep medications at 9pm. His whole day was alert, calm, and peaceful. He still struggled with congestion and breathing, but he didn't let that dampen his spirits. We went for a walk around town, swung on the swing set, and played. If only every day would be like yesterday it would be a great life for Owen.
Owen will now have his pre-op appointment on June 17th. We will also meet with GI and his neurologist on that day. I will post an update after those appointments.
 |
| A bit hard to see, but Owen has been wearing his Oklahoma hoodie to support those he loves in Moore, Ok. Thankfully, our friends that we love made it through the tornado safely, but their community will be forever changed. Our prayers include love, hope, and healing to that area every day. |
 |
| My handsome, silly red-head |
Sunday, April 28, 2013
Partying Like a 20 Month Old
Yesterday we celebrated Ellie's 3rd Birthday at her favorite music class, Itsy Bitsy Zone. It was a fun day filled with family, good friends, and Ellie enjoyed every moment of it. Ellie had the same party last year for her 2nd Birthday- we progressed from a 2-year old Cookie Monster theme to a 3-year old Minnie Mouse theme. At the party last year, Owen was surrounded by loving arms and tucked into a corner bench. The goal was to have him at the party, but calm and comfortable.
Owen has come a long way over the past year. He partied right along with all the other kids this year and it was a great sight! He tried out the bouncy house -and loved it. He went down the slide- and loved it. He danced with ribbons, listened to egg shakers, and banged a pot- and loved it.
Owen showed us yesterday that he is ready to play and it is our job to keep his struggles- seizures, GI issues, medications, irritability- in check so that he can fully participate in the great life he has. Three is such a fun age, but I am also really loving a 20-month old Owen!
Owen has come a long way over the past year. He partied right along with all the other kids this year and it was a great sight! He tried out the bouncy house -and loved it. He went down the slide- and loved it. He danced with ribbons, listened to egg shakers, and banged a pot- and loved it.
Owen showed us yesterday that he is ready to play and it is our job to keep his struggles- seizures, GI issues, medications, irritability- in check so that he can fully participate in the great life he has. Three is such a fun age, but I am also really loving a 20-month old Owen!
 |
| Borrowing his big sister's Mickey shirt |
 |
| Bouncing in the bouncy house. I now have 2 kids who love bouncy houses... |
 |
| Grooving to the music |
 |
| Listening to the symphony of egg shakers |
 |
| A room full of preschoolers banging on pots and pans puts me to sleep! |
 |
| One happy family |
 |
| Too tired to play with his farm animals |
 |
| For me, the best part of the day was seeing Owen sit next to his big sister at the table. He listened as everyone sang her Happy Birthday and tried a bit of frosting on his Nuk. Often it is the little things in life that are the most important. This was a moment I had been waiting 20 months to see. |
Wednesday, April 24, 2013
The Results Are In
Owen's genetic doctor called me on Monday evening to let me know the results from the Whole Exome Sequencing (WES) were in. Owen's genetic results showed us the following:
This is a wonderful genetic report if you have a typically developing child who is hitting all of their milestones. This is devastating news for our family in regard to Owen. Essentially we have learned nothing from this test. Owen's symptoms do not fit AAA Syndrome. I have a few pending questions for his geneticist regarding this disease, but overall it does not make sense in regard to Owen.
The results also do not resolve the mystery of why this happened to Owen. Was it a problem at conception or the result of something Pete and I passed on to Owen through our genes? We don't know. That leaves us in the 75% chance of having a child like Ellie and a 25% chance of having a child like Owen if we were to expand our family. As we have said in the past, we will not accept those odds. This is hard for me because I have wanted another baby since about 2 minutes after Owen was born. I am officially accepting that I will not get to be pregnant again or have another child. Henceforth, my energy will be focused on being the best mom I can to the two great kids I have. I am pretty lucky- and there is going to be a massive Yard Sale this summer- who needs baby stuff??
Even though the genetic results did not give us an answer, it is important to understand that this test is not a complete evaluation of the human genome.
In the human genome there are about 180,000 exons: these constitute about 1% of the human genome- It is estimated that the protein coding regions of the human genome constitute about 85% of the disease-causing mutations.
That is the explanation from my good friend, Wikipedia. The way Owen's geneticist explains it is:
If you watch a 30 minute TV show- only the show portion of Owen was tested. Science does not have a way to test the commercials within that TV show yet (or at least it isn't available to the public). We love Owen, but we would never take a blind risk of adding to our family without knowing 100% why Owen struggles as he does.
Today, I had Owen at the hospital for another EEG. He hasn't been doing well lately in terms of irritability. His seizures are increasing and we are working hard to limit the number of them and also the irritability they are causing him. This is an ongoing struggle. Owen showed his entire repertoire of seizures while hooked up to the EEG machine and video. His neurologist has adjusted his medications and will continue to search for ways to improve Owen's comfort level.
Moving forward- we are pretty much out of options. Our plan in the next few months is to move forward with g-tube surgery. This is a decision Pete and I made awhile ago and one I will explain in more detail in another post to come. During the surgery, he will have a MRI done and also a muscle biopsy. The muscle biopsy is the only definitive way to test for mitochondrial disease. It is something that has always been on the table of discussion for Owen. At this point, it makes sense to combine procedures while he is under anesthesia.
We also discussed second opinion options. As many people who read this blog know, I am from Minnesota- home of the renowned Mayo Clinic. Owen's neurologist is working to make a referral to Mayo for our family. It is a very easy decision to combine a vacation to see the people we love with a visit to an amazing hospital who might find Owen very interesting.
The future for our family is very bright. We have Ellie's Minnie Mouse 3rd Birthday Extravaganza on Saturday. I mourn the loss of the beautiful third baby I will never know, but I am very aware of how fortunate I am to already have two amazing kids. I will never stop looking for answers for Owen, but I am accepting the reality that Owen truly is a mystery.
- One gene abnormality associated with the disease Achalasia Addisonianism Alacrimia Syndrome (AAA Syndrome)
- A few variants which have been passed from either me or Pete to Owen. These variants do not cause symptoms because Pete and I do not have symptoms
- Carrier Status- Owen isn't a carrier of anything
This is a wonderful genetic report if you have a typically developing child who is hitting all of their milestones. This is devastating news for our family in regard to Owen. Essentially we have learned nothing from this test. Owen's symptoms do not fit AAA Syndrome. I have a few pending questions for his geneticist regarding this disease, but overall it does not make sense in regard to Owen.
The results also do not resolve the mystery of why this happened to Owen. Was it a problem at conception or the result of something Pete and I passed on to Owen through our genes? We don't know. That leaves us in the 75% chance of having a child like Ellie and a 25% chance of having a child like Owen if we were to expand our family. As we have said in the past, we will not accept those odds. This is hard for me because I have wanted another baby since about 2 minutes after Owen was born. I am officially accepting that I will not get to be pregnant again or have another child. Henceforth, my energy will be focused on being the best mom I can to the two great kids I have. I am pretty lucky- and there is going to be a massive Yard Sale this summer- who needs baby stuff??
Even though the genetic results did not give us an answer, it is important to understand that this test is not a complete evaluation of the human genome.
In the human genome there are about 180,000 exons: these constitute about 1% of the human genome- It is estimated that the protein coding regions of the human genome constitute about 85% of the disease-causing mutations.
That is the explanation from my good friend, Wikipedia. The way Owen's geneticist explains it is:
If you watch a 30 minute TV show- only the show portion of Owen was tested. Science does not have a way to test the commercials within that TV show yet (or at least it isn't available to the public). We love Owen, but we would never take a blind risk of adding to our family without knowing 100% why Owen struggles as he does.
Today, I had Owen at the hospital for another EEG. He hasn't been doing well lately in terms of irritability. His seizures are increasing and we are working hard to limit the number of them and also the irritability they are causing him. This is an ongoing struggle. Owen showed his entire repertoire of seizures while hooked up to the EEG machine and video. His neurologist has adjusted his medications and will continue to search for ways to improve Owen's comfort level.
Moving forward- we are pretty much out of options. Our plan in the next few months is to move forward with g-tube surgery. This is a decision Pete and I made awhile ago and one I will explain in more detail in another post to come. During the surgery, he will have a MRI done and also a muscle biopsy. The muscle biopsy is the only definitive way to test for mitochondrial disease. It is something that has always been on the table of discussion for Owen. At this point, it makes sense to combine procedures while he is under anesthesia.
We also discussed second opinion options. As many people who read this blog know, I am from Minnesota- home of the renowned Mayo Clinic. Owen's neurologist is working to make a referral to Mayo for our family. It is a very easy decision to combine a vacation to see the people we love with a visit to an amazing hospital who might find Owen very interesting.
The future for our family is very bright. We have Ellie's Minnie Mouse 3rd Birthday Extravaganza on Saturday. I mourn the loss of the beautiful third baby I will never know, but I am very aware of how fortunate I am to already have two amazing kids. I will never stop looking for answers for Owen, but I am accepting the reality that Owen truly is a mystery.
Monday, April 15, 2013
Genetic Test Results
...yeah, we are still waiting for those. Happy Patriot's Day!
 |
| Throw back photo of Owen in 2012 |
Thursday, March 28, 2013
Owen's Wheelchair
Owen's wheelchair was delivered today. Here are a few pictures of him in it. I cannot wait to get him outside and try out the stroller frame. So exciting!!
 |
| Front view of the High/Low Base (for indoor use) |
 |
| Handsome Owen in blue. It brings out that gorgeous red hair and he has a Nuk to match! |
 |
| The High/Low base it in the full upright position. It can also be lowered almost to the ground. I have already put it down to Ellie's height so she can push him around the house and play with him. She enjoys putting her snack on his tray |
 |
| This is the stroller base. The seat just slides off and attaches to this base. Super simple and the outdoor base is rugged so we can do some off roading! |
 |
| Owen playing in his light box from Perkins |
 |
| Busy Busy |
Subscribe to:
Posts (Atom)