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! :-)
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