What a crazy and amazing 2015! I was just looking back through Facebook posts and images over the last year and was surprised to remember what a roller coaster ride it was. From little man's surgery the second week in January....to our trip to the Children's Hospital of Philadelphia in April....seeing new doctors at the Epilepsy center in MN throughout the year....starting Jameson's bucket list and watching him enjoy all the adventures we've been blessed to take him on....and to top the year off we finally received the results of his whole exome sequencing!
As most of you know, Jameson has been clinically diagnosed with Cornelia deLange Syndrome since he was 9 months old. It was the only diagnosis that his doctors in the NICU suspected when he was born and they made this assumption based on his features and medical issues. (Ex: long eyelashes, lots of hair, low birth weight, reflux, trouble with feedings, small chin, etc) There are 5 known gene mutations that cause CdLS and Jameson has tested negative for all of them, however there is still a decent percentage of kids that have this disorder with no genetic cause found. We ventured to the Children's Hospital of Philadelphia in April to see their doctors that specialize in CdLS and they wanted us to pursue something called a whole exome sequence. This is a blood test from Jameson, myself and Matt that looks for any gene mutation within the 20,000 genes in our body. After 6 long months we finally got the results back right before Christmas, but nothing definitive was found. There were a couple mutations of interest but nothing that explained Jameson's disorder.
This doesn't come as a disappointment or a surprise to our family, as we always knew it was a possibility we wouldn't find anything. It reiterates to us yet again that Jameson is a very special little man and most likely one in a million! :-) We will also always hold on to our diagnosis of CdLS because the groups of parents and caregivers are like a second family to us. There are a couple of programs that I'm looking into now that we might try in the future for children with extremely rare and undiagnosed disorders, one at Mayo and one at the National Institute of Health in Maryland. While part of me feels like I'm always going to want more answers, another part feels like there is never going to be a doctor or researcher that can tell me more about Jameson than myself. And as time goes on, I'm sure that will become more and more of a realization.
As always, we have a busy month coming up after this nice break in November and December! (Pray for no snowstorms!!) The second week in January we will be traveling to the U of Iowa for appointments with Endocrinology, ENT and Nephrology. The week after that we are back up to MN for appointments with our brain doctors! :-)
I hope everyone is having a safe and enjoyable holiday season! See you all in 2016!
Tuesday, December 29, 2015
Tuesday, November 24, 2015
Another year of being thankful
It's that time of year again. The time of year where we try our best to be aware of the things we are grateful for the most.
Last year around Thanksgiving, I wrote a blog post about the things I am thankful for. So in that tradition I am dedicating a second blog post to being grateful....with a year of reflection along with it.
1.) I am thankful for nearly 4 months of seizure freedom for Jameson. His mind and body have gotten a much needed break and in that time he has blossomed. A very helpful doctor once told me that the brain is like the foundation of a house. When you're building you need the foundation to be strong and sturdy before adding the walls, windows and everything else. Seizures are constantly cracking the foundation so that the walls can't go up. Seizure freedom, thanks to his medications, allows the foundation to be strong and the rest of the house to be built around it.
2.) I am thankful again to friends and family for their love and support for little man. I appreciate every prayer that comes his way when he's struggling....and I appreciate all the kind words of encouragement when he's doing well. I am grateful to every single person that makes a point to ask about him, even when I have nothing positive to say. The journey we all take with him is a roller coaster of emotions and its not always going to have good days. But the bad days are all worth it when he gives you that little smile...the one we have to work so hard for. :-)
3.) Lastly, I am thankful in advance. Our family heard a great sermon at church last weekend that really hit home for all of us. It was about being thankful to God in advance. I have found myself praying to God for many things over the last 2 1/2 years. I pray to God about helping Jameson have a restful night sleep so that he can work hard in physical therapy the next day. I pray to God that he will watch over Jameson when doctors are performing surgeries or thinking of the best treatments for his condition. I pray to God that he will heal Jameson's kidneys or brain or help him learn to use his legs.
Being thankful in advance is about praying in a different way. Pray to God that despite the outcome, you will be thankful. That's a hard thing to overcome but also incredibly freeing. No matter what, I will be grateful for everything we have and how far we've come. Trust that there is a greater plan to it all and therefore we can be thankful in advance that God has it under control.
Hope everyone has a great Thanksgiving holiday and remember to always be thankful!
Last year around Thanksgiving, I wrote a blog post about the things I am thankful for. So in that tradition I am dedicating a second blog post to being grateful....with a year of reflection along with it.
1.) I am thankful for nearly 4 months of seizure freedom for Jameson. His mind and body have gotten a much needed break and in that time he has blossomed. A very helpful doctor once told me that the brain is like the foundation of a house. When you're building you need the foundation to be strong and sturdy before adding the walls, windows and everything else. Seizures are constantly cracking the foundation so that the walls can't go up. Seizure freedom, thanks to his medications, allows the foundation to be strong and the rest of the house to be built around it.
2.) I am thankful again to friends and family for their love and support for little man. I appreciate every prayer that comes his way when he's struggling....and I appreciate all the kind words of encouragement when he's doing well. I am grateful to every single person that makes a point to ask about him, even when I have nothing positive to say. The journey we all take with him is a roller coaster of emotions and its not always going to have good days. But the bad days are all worth it when he gives you that little smile...the one we have to work so hard for. :-)
3.) Lastly, I am thankful in advance. Our family heard a great sermon at church last weekend that really hit home for all of us. It was about being thankful to God in advance. I have found myself praying to God for many things over the last 2 1/2 years. I pray to God about helping Jameson have a restful night sleep so that he can work hard in physical therapy the next day. I pray to God that he will watch over Jameson when doctors are performing surgeries or thinking of the best treatments for his condition. I pray to God that he will heal Jameson's kidneys or brain or help him learn to use his legs.
Being thankful in advance is about praying in a different way. Pray to God that despite the outcome, you will be thankful. That's a hard thing to overcome but also incredibly freeing. No matter what, I will be grateful for everything we have and how far we've come. Trust that there is a greater plan to it all and therefore we can be thankful in advance that God has it under control.
Hope everyone has a great Thanksgiving holiday and remember to always be thankful!
Tuesday, October 27, 2015
The Pituitary Gland
Hi all!
I'm dedicating a blog to my newest research interest...the pituitary gland! Jameson's most recent MRI showed that his is underdeveloped so we are now adding Endocrinology to our list of specialists and mom is spending her nights researching hormones!! :-P
The pituitary gland is a tiny organ, the size of a pea, found at the base of the brain. As the “master gland” of the body, it produces many hormones that travel throughout the body, directing certain processes or stimulating (causing) other glands to produce other hormones. There are two parts of the pituitary gland, the anterior (front part) and the posterior (back part). Jameson's is underdeveloped in the anterior part.
There are a number of hormones that are produced in the pituitary gland but these three are the ones we're most concerned about for little man:
Growth hormone (GH) - GH stimulates growth in childhood and is important for maintaining a healthy body composition and bone strength.
Adrenocorticotropin (ACTH) - ACTH stimulates the production of cortisol by the adrenal glands. Cortisol helps maintain blood pressure and blood glucose (sugar) levels.
Thyroid-stimulating hormone (TSH) - TSH stimulates the thyroid gland to produce thyroid hormones, which regulate the body's metabolism, energy balance, growth, and nervous system activity.
While these hormones may seem super important, and they are, we are lucky that little man has never showed any major issues with them. (hence why we never tested before this MRI) Obviously his growth has been an issue, but he's always been proportionally small and never dehydrated or malnourished. He's never shown signs or any problems with blood sugar or blood pressure, so his doctors are very happy with that.
Our next few months will include more testing on these hormones to figure out what sorts of treatments would be an option for him and what we decide is right for his life. Its always a balance....and we'll take it one test result at a time. As long as he's happy and feels loved, that's the best treatment anyone can ask for! :-)
I'm dedicating a blog to my newest research interest...the pituitary gland! Jameson's most recent MRI showed that his is underdeveloped so we are now adding Endocrinology to our list of specialists and mom is spending her nights researching hormones!! :-P
The pituitary gland is a tiny organ, the size of a pea, found at the base of the brain. As the “master gland” of the body, it produces many hormones that travel throughout the body, directing certain processes or stimulating (causing) other glands to produce other hormones. There are two parts of the pituitary gland, the anterior (front part) and the posterior (back part). Jameson's is underdeveloped in the anterior part.
There are a number of hormones that are produced in the pituitary gland but these three are the ones we're most concerned about for little man:
Growth hormone (GH) - GH stimulates growth in childhood and is important for maintaining a healthy body composition and bone strength.
Adrenocorticotropin (ACTH) - ACTH stimulates the production of cortisol by the adrenal glands. Cortisol helps maintain blood pressure and blood glucose (sugar) levels.
Thyroid-stimulating hormone (TSH) - TSH stimulates the thyroid gland to produce thyroid hormones, which regulate the body's metabolism, energy balance, growth, and nervous system activity.
While these hormones may seem super important, and they are, we are lucky that little man has never showed any major issues with them. (hence why we never tested before this MRI) Obviously his growth has been an issue, but he's always been proportionally small and never dehydrated or malnourished. He's never shown signs or any problems with blood sugar or blood pressure, so his doctors are very happy with that.
Our next few months will include more testing on these hormones to figure out what sorts of treatments would be an option for him and what we decide is right for his life. Its always a balance....and we'll take it one test result at a time. As long as he's happy and feels loved, that's the best treatment anyone can ask for! :-)
Thursday, September 17, 2015
Blessings
I feel inspired this afternoon to write a blog about the many blessings we've received lately as we prepare for Jameson's upcoming 2nd birthday party. Yes, Jameson turned 2 years old back in May but since he was in a bad place medically we decided to postpone the party until he was feeling better. 4 months later and what an amazing change he's had! His new seizure med, Onfi, has been a beacon of hope for us. I say that with a disclaimer as we known Jameson's type of epilepsy is complicated and always trying to find its way around his medications. However, I'm pleased that for the time being we have a happy little boy that is sleeping better and playing with toys independently and on a consistent basis.
Its funny the things that you will become grateful and excited for when you're in a situation like ours. I made the decision this month that I'm ready to start the process of getting Jameson's first wheelchair. May not sound like something you'd be excited for your child to get but for me it will be like Christmas morning when its ready. Jameson is going to be 2 1/2 years old and he doesn't deserve to sit in an infant stroller anymore. He's a big boy that has been through so much in his life and he deserves to sit up and see the world like any other 2 year old would. I can't wait to see him explore the world in his chair...supported and comfortable and at the same eye level as any other child his age.
Speaking of blessings, I cannot express enough my excitement for Jameson's upcoming birthday party. We'll have about 50-60 people coming to celebrate the little man and his awesomeness! The weather is supposed to be beautiful and of course, there will be lots of pictures! Can't wait to post them!! :-)
Its funny the things that you will become grateful and excited for when you're in a situation like ours. I made the decision this month that I'm ready to start the process of getting Jameson's first wheelchair. May not sound like something you'd be excited for your child to get but for me it will be like Christmas morning when its ready. Jameson is going to be 2 1/2 years old and he doesn't deserve to sit in an infant stroller anymore. He's a big boy that has been through so much in his life and he deserves to sit up and see the world like any other 2 year old would. I can't wait to see him explore the world in his chair...supported and comfortable and at the same eye level as any other child his age.
Speaking of blessings, I cannot express enough my excitement for Jameson's upcoming birthday party. We'll have about 50-60 people coming to celebrate the little man and his awesomeness! The weather is supposed to be beautiful and of course, there will be lots of pictures! Can't wait to post them!! :-)
Wednesday, August 26, 2015
Making Memories
What a great month for the little man! We have gone full steam ahead with Jameson's bucket list and are making efforts to get out there and make memories and experiences for him. Of course it wouldn't been in true Jameson fashion without a few hiccups along the way….aka a late night ambulance ride last week to the ER….but the bumps in the road sure are a lot easier when you see the amazing things he's doing.
As most of you probably saw on Facebook, little man has gotten his sun goggles and they're working like a charm. I cannot express the feeling of being able to finally take him out into the world after two years of being inside. Even something as simple as sitting out on the back porch or sitting in the grass with little man being able to look up at the clouds is surreal. I was so happy to be able to share his first experience being in a swimming pool at our family reunion with everyone cheering him on. Seeing these memories made for him through other people's eyes is also an amazing gift and makes you incredibly thankful to God.
We continue to work hard towards giving Jameson the best life possible, full of adventure and love. We also continue to work hard at giving him access to the best doctors and treatments available. Today we are heading back to the University of Iowa for a visit with Pulmonology. She will be taking a good look at his lungs and breathing. September we have more big appointments with his Nephrologist and Urologist who watch his kidney and bladder function. Then in October we are back to MN for another inpatient stay while they watch him on vEEG to look at seizures and he'll be having another MRI. We are also still waiting on results back from his Whole Exome Sequencing which will be very exciting when we get those! So another busy few months but that is the life of our tough little man!
As always, we appreciate everyones love and support. We cannot thank you enough for all the kind words and messages. It's because of all of you that we have as much strength as we do to help Jameson fight his battles and have a wonderful life. Thanks again!
As most of you probably saw on Facebook, little man has gotten his sun goggles and they're working like a charm. I cannot express the feeling of being able to finally take him out into the world after two years of being inside. Even something as simple as sitting out on the back porch or sitting in the grass with little man being able to look up at the clouds is surreal. I was so happy to be able to share his first experience being in a swimming pool at our family reunion with everyone cheering him on. Seeing these memories made for him through other people's eyes is also an amazing gift and makes you incredibly thankful to God.
We continue to work hard towards giving Jameson the best life possible, full of adventure and love. We also continue to work hard at giving him access to the best doctors and treatments available. Today we are heading back to the University of Iowa for a visit with Pulmonology. She will be taking a good look at his lungs and breathing. September we have more big appointments with his Nephrologist and Urologist who watch his kidney and bladder function. Then in October we are back to MN for another inpatient stay while they watch him on vEEG to look at seizures and he'll be having another MRI. We are also still waiting on results back from his Whole Exome Sequencing which will be very exciting when we get those! So another busy few months but that is the life of our tough little man!
As always, we appreciate everyones love and support. We cannot thank you enough for all the kind words and messages. It's because of all of you that we have as much strength as we do to help Jameson fight his battles and have a wonderful life. Thanks again!
Friday, July 24, 2015
The Adventure List
I came to a big realization this week. It actually hit me like a ton of bricks. It all started when little man and I had an appointment with one of his therapists and she mentioned cutting back on some of his therapy appointments. My first reaction was one that many mom's would have, absolutely not!! We're trying to fit in as much physical, speech and occupational therapy as we can so that Jameson continues to develop. But her reasoning behind it wasn't what I expected.
After two years of being in survival mode, trying to keep little man in a bubble and safe from the big bad world around us, I'm starting to realize that he isn't fully experiencing life. His therapist has helped open my eyes to what quality of life can look like. These appointments every week, while helpful, will not give him the same therapy of having life experiences out in the world. Laying in the grass and feeling the breeze is a life experience. Visiting an art museum is a life experience. Heck, even sitting with mom in a Starbucks and people watching is a life experience! :)
So after much thought, mom has come to the realization that therapy can come in many forms. I may not have control over when God decides to take my little man, whether it be 5 years or 10 years or 30 years, but I can give him the fullest life packed with adventure and experiences. And that might be the best sort of therapy he could have.
My next goal is to work on a list of adventures for little man, sort of like a bucket list of things we need to accomplish but with no end date. It will be an evolving list of ideas, no matter how big or small, that can be checked off one by one. Please fill me in on any and all ideas you might have an I'll add them to our Adventure List! So far we have......
• Look at art in a museum
• Sit in the planetarium at the science center
• Visit Build a Bear workshop and make a friend
• Sit on Santa's lap
• Go to an ocean and put my feet in the sand
• Swing on a playset
• Take a ride on a boat
• Meet Elmo
• Go sledding
• Lay in the grass
• Watch a live band
• Visit an aquarium and pet a dolphin
• Make art with my hands
• Go to Disney World!
After two years of being in survival mode, trying to keep little man in a bubble and safe from the big bad world around us, I'm starting to realize that he isn't fully experiencing life. His therapist has helped open my eyes to what quality of life can look like. These appointments every week, while helpful, will not give him the same therapy of having life experiences out in the world. Laying in the grass and feeling the breeze is a life experience. Visiting an art museum is a life experience. Heck, even sitting with mom in a Starbucks and people watching is a life experience! :)
So after much thought, mom has come to the realization that therapy can come in many forms. I may not have control over when God decides to take my little man, whether it be 5 years or 10 years or 30 years, but I can give him the fullest life packed with adventure and experiences. And that might be the best sort of therapy he could have.
My next goal is to work on a list of adventures for little man, sort of like a bucket list of things we need to accomplish but with no end date. It will be an evolving list of ideas, no matter how big or small, that can be checked off one by one. Please fill me in on any and all ideas you might have an I'll add them to our Adventure List! So far we have......
• Look at art in a museum
• Sit in the planetarium at the science center
• Visit Build a Bear workshop and make a friend
• Sit on Santa's lap
• Go to an ocean and put my feet in the sand
• Swing on a playset
• Take a ride on a boat
• Meet Elmo
• Go sledding
• Lay in the grass
• Watch a live band
• Visit an aquarium and pet a dolphin
• Make art with my hands
• Go to Disney World!
Thursday, July 16, 2015
Never Give Up
I found this quote the other day and it really resonated with me. It takes a lot of strength to take the jabs and punches of life and to keep going. My situation with Jameson is extreme but not unique. Everyone has something they're going through that can feel like it would just be easier to give up. The true strength within us all comes from what we do when life has knocked us down to our knees.
Little man has been home from the epilepsy unity at the hospital for about a week. He has not had a tonic - clonic seizure since the Saturday before we left. (Thank you God) We had a lot of anticipation for our trip to MN, and while I'll admit that we weren't completely happy with the answers we got, I also took on a new perspective. Jameson is a complex little boy and his medical issues are not black and white. He is the epitome of gray zones. He lives in a world of rare cases and the small percentage of patients that don't respond to treatments how they should. He has a severe and complicated form of epilepsy that is difficult to figure out or medicate. The best we all can do is put our faith in his team of doctors and let them guide us in this journey.
Seizures are terrifying, I won't lie. No one can ever get used to watching their child have a seizure and stop breathing....but you can learn to help them in whatever way you can. I have no control over Jameson's brain activity going haywire and into a seizure on a Saturday afternoon, but I can put him on his side and give him rescue medication so that the seizure stops. That is something I can control. And the rest will get easier with time. Just like when Jameson was a 7 lb, 5 week old little peanut and his feeding tube was surgically put into his stomach. I didn't know what a feeding tube was, let alone how I could handle taking care of it. Now, 2 years later, tube feedings are second nature. Same goes for his vesicostomy. When they told me he would need a hole in his bladder that goes straight through the skin and leaks out his abdomen, I cried. How could I do this? This isn't right and it's not fair. But like everything else, it becomes a part of life and no big deal. Seizures will be the next hurdle, and they too will become a part of life and we'll take it as it comes. I have faith that there is a plan for it all.
Thank you everyone for your continued prayers for Jameson and our whole family. While some days can be harder than others, we are always so grateful and proud to have such amazing friends and family that love and support little man in his journey. What a journey it is! :-)
Monday, June 29, 2015
One More Week
Oh how quickly the tides can change.
We have been enjoying nearly a month of happy and healthy little man. Very little daily twitching and more personality than we've seen in a long time. The last few days have been quite different. It's strange how quickly things can change. I wish I didn't have to write a blog like this, I hate being a downer. But if I'm honest, the last few days have pushed us further than we've ever been. Three major seizures since Thursday and two just in the last 24 hours.
One more week. One more week.
It's a mantra I keep repeating in my head. One more week until we go into the hospital in MN for Jameson's week long EEG. One more week to answers...treatments...hope. If we can just keep him stable for one more week, these doctors will figure it out. Give him what he needs. Give us a plan. A lifeboat.
I hope they're as good as we expect them to be. Putting your trust in a doctor you barely know to help improve your child's life in slightly terrifying. But what choice do we have? One more week.
Prayers for answers.
We have been enjoying nearly a month of happy and healthy little man. Very little daily twitching and more personality than we've seen in a long time. The last few days have been quite different. It's strange how quickly things can change. I wish I didn't have to write a blog like this, I hate being a downer. But if I'm honest, the last few days have pushed us further than we've ever been. Three major seizures since Thursday and two just in the last 24 hours.
One more week. One more week.
It's a mantra I keep repeating in my head. One more week until we go into the hospital in MN for Jameson's week long EEG. One more week to answers...treatments...hope. If we can just keep him stable for one more week, these doctors will figure it out. Give him what he needs. Give us a plan. A lifeboat.
I hope they're as good as we expect them to be. Putting your trust in a doctor you barely know to help improve your child's life in slightly terrifying. But what choice do we have? One more week.
Prayers for answers.
Tuesday, June 2, 2015
The Complexities of the Brain
I've been wanting to write a blog post about the complexities of Jameson's brain for a while but the timing was never quite right. I've recently been in touch with a new doctor at Johns Hopkins in Baltimore who is looking at little man's MRI scans to help diagnose him, and because of that I decided to dedicate a blog to helping people better understand the differences in Jameson's brain and why he is the way he is. (...or at least try)
Above are two MRI scans of the brain, one is a typical person's brain and one is Jameson. The largest section towards the top is the cerebeum, it is what people usually think of when they think of a brain. The area below that where the arrow is pointing is the cerebellum, it controls movement and coordination. The long thin section in the middle is the pons, it connects all the way down to the spinal cord. As you can see, the areas where the cerebellum and pons are for Jameson are much smaller than on the typical person's brain. The medical terminology for this is hypoplasia, meaning it never fully formed and is smaller than it should be. So because these structures are not fully formed and they are what helps the body coordinate movement, it explains a lot about why little man is still unable to control his body. Things like holding his head, sitting and walking are just going to be a lot more difficult for him since his brain will have to figure it out differently than a typical person would.
Why Jameson's brain formed this way is still a mystery. Most likely, it has to do with a larger genetic disorder that spontaneously happened when he was just a little tadpole. We may never know for sure, but the more scientists continue to research the complexities of the brain and how it works and grows, the closer we'll be to helping kids and adults with neurological disorders.
I hope that wasn't too much of a science lesson, feel free to ask questions if you ever have any. We appreciate everyone's love and support as we continue to learn about the many intricacies of little man. :-)
Above are two MRI scans of the brain, one is a typical person's brain and one is Jameson. The largest section towards the top is the cerebeum, it is what people usually think of when they think of a brain. The area below that where the arrow is pointing is the cerebellum, it controls movement and coordination. The long thin section in the middle is the pons, it connects all the way down to the spinal cord. As you can see, the areas where the cerebellum and pons are for Jameson are much smaller than on the typical person's brain. The medical terminology for this is hypoplasia, meaning it never fully formed and is smaller than it should be. So because these structures are not fully formed and they are what helps the body coordinate movement, it explains a lot about why little man is still unable to control his body. Things like holding his head, sitting and walking are just going to be a lot more difficult for him since his brain will have to figure it out differently than a typical person would.
Why Jameson's brain formed this way is still a mystery. Most likely, it has to do with a larger genetic disorder that spontaneously happened when he was just a little tadpole. We may never know for sure, but the more scientists continue to research the complexities of the brain and how it works and grows, the closer we'll be to helping kids and adults with neurological disorders.
I hope that wasn't too much of a science lesson, feel free to ask questions if you ever have any. We appreciate everyone's love and support as we continue to learn about the many intricacies of little man. :-)
Thursday, May 21, 2015
Wonder Food
I'm dedicating a quick blog to an awesome anniversary for little man. It has been 9 months since we started giving Jameson 100% real food. That's 39 weeks of dairy free, gluten free, organic goodness! And 274 days since he last had infant formula! :)
(Chicken breast, green beans, mixed berries, bananas, rice milk and cereal, butternut squash and coconut oil)
In this complex medical world that we have no control over, food is one thing we have a choice in. I have the ability to give his body the best possible option with whole natural fruits and vegetables.....and I couldn't be more pleased with how well he does tolerating it and enjoying the way this food makes his body feel! Proud of you little man!!!!
In this complex medical world that we have no control over, food is one thing we have a choice in. I have the ability to give his body the best possible option with whole natural fruits and vegetables.....and I couldn't be more pleased with how well he does tolerating it and enjoying the way this food makes his body feel! Proud of you little man!!!!
Thursday, April 23, 2015
One of a kind
Four planes + six cab rides + two layovers and a broken stroller = one successful trip!
Happy to say that little man did fantastically well on our mini-vacation/doctor visit. He had no problems going up and down in the plane and even did fairly well driving in a cab with the bright sun shining in! With all the medical things we're constantly dealing with, it really is nice that Jameson has such a easy going personality. He is perfectly content just sitting on mom's lap during a plane ride and looking around. :-)
We were lucky enough to meet some amazing doctors and even more amazing CdLS kiddos and their parents while we visited. It's sort of mind blowing to actually see them in person after following all their individual stories on facebook for so long. Definitely the highlight of our trip!
On Thursday, we saw a few different doctors including a geneticist, Dr Krantz. He is the expert on all things Cornelia de Lange syndrome and has helped in finding all the known genetic mutations for this disorder. To be able to have his eyes on Jameson and get his expert opinion was the main reason for our trip. We discussed a lot about the syndrome and how little man fits in some things and doesn't fit in others. If you were to make a list of traits and medical issues that arise in children that have CdLS, Jameson fits in most all of them. The issue that we're having is that Jameson also has another list of medical issues that have nothing to do with CdLS and therefore the question remains...does he have this disorder or does he have something else that we haven't found yet?
After a long discussion about it, Dr Krantz suggested we continue searching for answers through a whole exome sequencing. This is a blood test that maps all 20,000 genes in the body and looks for mutations. Three things could possibly happen with this test...
1.) We find a gene mutation to another genetic disorder, and therefore have a new diagnosis.
2.) We find a gene mutation that doesn't match any known disorders. (Perhaps he's one of a kind?)
3.) We find nothing.
While it's hard to not have any definite answers, it's also very satisfying to know that our intuition has been spot on. We've felt for months that we were missing part of the puzzle. Little man doesn't have a lot of the same medical issues as other kiddos with CdLS we've seen and he isn't developing at the same pace. While I still believe he could have CdLS, it's nice to know that these expert doctors can see what we see. That there is another piece missing that we need to continue to search for. Maybe with these new tests, we will finally be able to figure it out.
Want to say a big heartfelt THANK YOU to everyone who continues to pray and send love for Jameson. We are incredibly lucky to have such a special little man in our lives, who teaches us new ways to think about life and selflessness every day. We plan to visit a new doctor next week that specializes in childhood epilepsy and can hopefully give us new insight and treatments for little man's seizures. I'll update everyone as we hear! :-)
Happy to say that little man did fantastically well on our mini-vacation/doctor visit. He had no problems going up and down in the plane and even did fairly well driving in a cab with the bright sun shining in! With all the medical things we're constantly dealing with, it really is nice that Jameson has such a easy going personality. He is perfectly content just sitting on mom's lap during a plane ride and looking around. :-)
We were lucky enough to meet some amazing doctors and even more amazing CdLS kiddos and their parents while we visited. It's sort of mind blowing to actually see them in person after following all their individual stories on facebook for so long. Definitely the highlight of our trip!
On Thursday, we saw a few different doctors including a geneticist, Dr Krantz. He is the expert on all things Cornelia de Lange syndrome and has helped in finding all the known genetic mutations for this disorder. To be able to have his eyes on Jameson and get his expert opinion was the main reason for our trip. We discussed a lot about the syndrome and how little man fits in some things and doesn't fit in others. If you were to make a list of traits and medical issues that arise in children that have CdLS, Jameson fits in most all of them. The issue that we're having is that Jameson also has another list of medical issues that have nothing to do with CdLS and therefore the question remains...does he have this disorder or does he have something else that we haven't found yet?
After a long discussion about it, Dr Krantz suggested we continue searching for answers through a whole exome sequencing. This is a blood test that maps all 20,000 genes in the body and looks for mutations. Three things could possibly happen with this test...
1.) We find a gene mutation to another genetic disorder, and therefore have a new diagnosis.
2.) We find a gene mutation that doesn't match any known disorders. (Perhaps he's one of a kind?)
3.) We find nothing.
While it's hard to not have any definite answers, it's also very satisfying to know that our intuition has been spot on. We've felt for months that we were missing part of the puzzle. Little man doesn't have a lot of the same medical issues as other kiddos with CdLS we've seen and he isn't developing at the same pace. While I still believe he could have CdLS, it's nice to know that these expert doctors can see what we see. That there is another piece missing that we need to continue to search for. Maybe with these new tests, we will finally be able to figure it out.
Want to say a big heartfelt THANK YOU to everyone who continues to pray and send love for Jameson. We are incredibly lucky to have such a special little man in our lives, who teaches us new ways to think about life and selflessness every day. We plan to visit a new doctor next week that specializes in childhood epilepsy and can hopefully give us new insight and treatments for little man's seizures. I'll update everyone as we hear! :-)
Monday, March 23, 2015
You can't control everything
February 28th, 2015 was not a good day. It's seems slightly ironic that on the day that is nationally recognized as "Rare Disease Awareness Day", Jameson's brain decided to have the worst seizure it's ever had. After almost 2 years of life, that was the day everything changed. Witnessing your child have a seizure and stop breathing in front of you is something I can't really describe and would never wish upon anyone. To say that I'm incredibly grateful to the paramedics, emergency room personnel and everyone that prayed for him that day is an understatement. It truly means more than you all know.
Trying to go back to everyday life after something like that is difficult, as you can imagine. But as the hours turned to days and now weeks, I've realized you have no control over it. You work with doctors and try to find the best medications and treatments you can....and the rest you leave to God.
I'm happy to say that Jameson is doing amazingly well, considering everything he's been through in the last few months. This weekend, he laid on his tummy and lifted his head for almost 30 seconds! It was one of the most beautiful things I've ever seen; the pride on his face for being able to hold it that long. We've been accepted by a specialized epilepsy group up in MN, so Jameson will be seeing a new group of doctors that work just with complex seizure cases. We're incredibly excited to get a new perspective and see some of the best doctors in the country to help him.
As always, I want to extend my heartfelt gratitude for everyone that continues to pray and think of him. I have no doubt in my mind that he was put on this earth to touch each and every one of us. I feel very lucky that our family was chosen to care for such a beautiful soul. :-)
Wednesday, February 25, 2015
Living in the fast lane
Where does the time go? Sometimes I feel like I'm in a whirlwind and then POOF! It's almost March! Hard to believe it's been almost 2 months since little man's surgery and only 6 weeks from our much anticipated trip to the Children’s Hospital of Philadelphia. I feel like just yesterday we were meeting with our geneticist and getting the CdLS diagnosis...now here we are, so much more knowledgeable and better equipped to handle whatever life throws at us!
I'm beyond happy to report that Jameson has been doing a lot better the last couple weeks. Other than a little virus, he has been sleeping better and is back OFF the pain medication. Yay! He is still sleeping in mom's bed instead of his crib...but eh, I figure you take what you can get. I'm also about 99% sure that he really just enjoys cuddling up next to mom or grandma if she's staying with him. Who can be upset at that? ;-)
We have a big week coming up at the University of Iowa. Little man is seeing his urologist, neurologist and his neurosurgeon. He will also be having another ultrasound to check on his kidneys since surgery, an EEG to monitor his seizures and another MRI scan to check the extra fluid in his brain. It will be busy but should be pretty stress free. I've stretched it out over two days this time so hopefully we don't feel rushed. I will give updates on everything once we get them.
Thanks everyone for stopping by, hope you're staying warm and out from under the snow!
I'm beyond happy to report that Jameson has been doing a lot better the last couple weeks. Other than a little virus, he has been sleeping better and is back OFF the pain medication. Yay! He is still sleeping in mom's bed instead of his crib...but eh, I figure you take what you can get. I'm also about 99% sure that he really just enjoys cuddling up next to mom or grandma if she's staying with him. Who can be upset at that? ;-)
We have a big week coming up at the University of Iowa. Little man is seeing his urologist, neurologist and his neurosurgeon. He will also be having another ultrasound to check on his kidneys since surgery, an EEG to monitor his seizures and another MRI scan to check the extra fluid in his brain. It will be busy but should be pretty stress free. I've stretched it out over two days this time so hopefully we don't feel rushed. I will give updates on everything once we get them.
Thanks everyone for stopping by, hope you're staying warm and out from under the snow!
Thursday, February 5, 2015
Recovery
Hi all, thanks for checking in! I apologize it's been a month since I last blogged! :-/
As you all know, it's been a doozy of a month for us with little man. He had his vesicostomy surgery along with a second orchiopexy done on January 8th at the University of Iowa Children's Hospital with our wonderful urologist, Dr Cooper. He was in the PICU a few days and then we were able to come home. He did very well during the procedure, as always, but this recovery has been by far the toughest on him of the three surgeries he's had in his life. I don't know if its because he's getting older and taking longer to heal...or if this surgery was just so much more intense, but little man has had a hard time getting back to himself. First, we had to deal with the immediate pain of his incisions...then it was getting his bladder spasms under control...then once that was under control he got an infection around his vesicostomy that we're still working on clearing up....and now, he's decided he doesn't want to sleep through the night anymore. I think it's probably because he's just so out of whack; it takes time to get back to a normal schedule. In the meantime, mom and grandma are very tired from splitting shifts! Haha :)
We will be going back to the University of Iowa in a couple weeks so that little man can get another brain MRI and see his neurologist and neurosurgeon. The point of this is to check the levels in his brain again to make sure the cerebrospinal fluid isn't accumulating too quickly. We are also seeing his orthopedics doctor again to talk about his spine. I know it seems like a lot, but you just do what you have to do. Jameson is a tough little soldier that has been through a lot. I'm hopeful that as we can get a lot of his medical issues under control, we will see less and less of his many doctors.
I wish I had more happy news to share with everyone, but unfortunately it's not always the reality of the current state of things. I know everyone is praying and rooting for him so I'm always striving to make sure I keep you all updated. Other than the sleeping and frustration from that, little man is otherwise doing very well. He is playing with toys again and we're working on getting him back into his weekly routine of therapy and appointments. He is so incredibly loved and supported by you all and we so appreciate it!!!
As you all know, it's been a doozy of a month for us with little man. He had his vesicostomy surgery along with a second orchiopexy done on January 8th at the University of Iowa Children's Hospital with our wonderful urologist, Dr Cooper. He was in the PICU a few days and then we were able to come home. He did very well during the procedure, as always, but this recovery has been by far the toughest on him of the three surgeries he's had in his life. I don't know if its because he's getting older and taking longer to heal...or if this surgery was just so much more intense, but little man has had a hard time getting back to himself. First, we had to deal with the immediate pain of his incisions...then it was getting his bladder spasms under control...then once that was under control he got an infection around his vesicostomy that we're still working on clearing up....and now, he's decided he doesn't want to sleep through the night anymore. I think it's probably because he's just so out of whack; it takes time to get back to a normal schedule. In the meantime, mom and grandma are very tired from splitting shifts! Haha :)
We will be going back to the University of Iowa in a couple weeks so that little man can get another brain MRI and see his neurologist and neurosurgeon. The point of this is to check the levels in his brain again to make sure the cerebrospinal fluid isn't accumulating too quickly. We are also seeing his orthopedics doctor again to talk about his spine. I know it seems like a lot, but you just do what you have to do. Jameson is a tough little soldier that has been through a lot. I'm hopeful that as we can get a lot of his medical issues under control, we will see less and less of his many doctors.
I wish I had more happy news to share with everyone, but unfortunately it's not always the reality of the current state of things. I know everyone is praying and rooting for him so I'm always striving to make sure I keep you all updated. Other than the sleeping and frustration from that, little man is otherwise doing very well. He is playing with toys again and we're working on getting him back into his weekly routine of therapy and appointments. He is so incredibly loved and supported by you all and we so appreciate it!!!
Saturday, January 3, 2015
Miracles
Change can come in many different ways. Sometimes it presents in an obvious fashion and sometimes it's much more subtle. If I'm being completely honest with myself and everyone else...then I will admit that I really hoped Jameson would be sitting up this Christmas to open his presents.
When Christmas 2013 hit, he was still so fragile and it wasn't expected. But deep in my mind I thought "well next Christmas he will be holding his head up and sitting for sure!" February rolled around, I was adamant he would do it. Summer came, we doubled his physical therapy during the week...."he's going to get stronger, one of these days it will just happen!" By the time the leaves were falling, I knew I'd gotten my hopes up. I could pray and hope for it all I wanted, but in the end, it was up to him and what his body was ready for.
And then something really awesome started to happen around Christmas....Jameson started to giggle. Not just giggle, but communicate with his wide grin and soft gentle voice. I know this is usually something that babies do in the first few months of life, but for us it was a Christmas miracle. To be able to look into your child's eyes after a year and a half of every test and doctors appointment imaginable, and have him smile at you like he knows you love him is indescribable. It's almost like God was listening to my prayers for the last year...but instead of giving me what I thought I wanted, he gave me what he knew I needed. I can dream all day about Jameson sitting and walking someday, doing all the things that typical kids can do. But what I really needed in my heart and in my soul, was to feel his love and acceptance. To feel like he knows that everything I do and every test and surgery that I put him through is because I love him more than anything in the world.
It was truly a Christmas miracle. :)
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When Christmas 2013 hit, he was still so fragile and it wasn't expected. But deep in my mind I thought "well next Christmas he will be holding his head up and sitting for sure!" February rolled around, I was adamant he would do it. Summer came, we doubled his physical therapy during the week...."he's going to get stronger, one of these days it will just happen!" By the time the leaves were falling, I knew I'd gotten my hopes up. I could pray and hope for it all I wanted, but in the end, it was up to him and what his body was ready for.
And then something really awesome started to happen around Christmas....Jameson started to giggle. Not just giggle, but communicate with his wide grin and soft gentle voice. I know this is usually something that babies do in the first few months of life, but for us it was a Christmas miracle. To be able to look into your child's eyes after a year and a half of every test and doctors appointment imaginable, and have him smile at you like he knows you love him is indescribable. It's almost like God was listening to my prayers for the last year...but instead of giving me what I thought I wanted, he gave me what he knew I needed. I can dream all day about Jameson sitting and walking someday, doing all the things that typical kids can do. But what I really needed in my heart and in my soul, was to feel his love and acceptance. To feel like he knows that everything I do and every test and surgery that I put him through is because I love him more than anything in the world.
It was truly a Christmas miracle. :)
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