What does Jameson have?

I often get questions like this....what disease does he have? What's wrong with him? I tend to be a little wary of explaining little man's diagnoses too in detail for people, mostly because I don't want to over-explain medical things and get people confused. So in the spirit of sharing and being open with all of our friends and family, I'm going to attempt to explain Jameson's genetic disorder again. (And hopefully in a way that's easy to understand)  :-)


We don't have a specific gene mutation (that the scientific community has found yet) that can help explain all of the medical issues that Jameson has. He has had a whole exome sequence done, which maps the body's entire genetic sequence looking for any mutations to help us understand him better. Since this science is still so new, his results have been put into a research study at the Mayo Clinic to try and determine if he has a new genetic disorder that hasn't yet been discovered. Since we don't have specific answers yet, its easiest for us to understand Jameson (medically) by putting him into two separate disorders.


The one most people understand, as we've had this diagnosis for nearly his entire life, is Cornelia deLange Syndrome. Its a genetic disorder that affects a lot of systems in the body including his small body size, Gastrointestinal problems, hearing loss, and distinct facial features including long eyelashes and thick hair. 


The second category that Jameson falls into that less people understand is something called Pontocerebellar Hypoplasia. This is a group of related conditions that affect the development of the brain. Sometimes you can point to a gene that caused the disease, and sometimes you can't. With PCH, the pons and cerebellum in the back part of the brain just never fully develop when the baby is growing. Unfortunately, its not something that can be re-grown later, and much of the time it will lead to degeneration of the brain. (Similar to Parkinsons or ALS)


Reading about PCH on the internet is very sobering. Many of the children don't make it to the second decade of their life, and I've known many parents and children through online support groups that have passed too soon. I don't like to talk about this stuff a lot because I don't like people to feel sorry for Jameson or for our family. I like to think of Jameson's life as having a purpose that is beyond my own understanding. However long God chooses for him to be on this earth with us will be a gift. And when the time comes for the Lord to take him back, we will be glad for the time we had with him and know we made each day count.


Love to you all and thanks for being our support!

The path of least resistance

I couldn't happier with our decision last year to transfer all of Jameson's medical care up to the Mayo Clinic. My number 1 reason for changing was to have all of his doctors in one place where they could easily discuss Jameson and what's best for him. My dream scenario was everyone sitting around a big table, bringing their different perspectives, and coming up with new ideas about how best to treat a complex kiddo like him.  Well, that happened yesterday afternoon. His pulmonologist, ENT, sleep medicine, neurologist and palliative/critical care doctors all sat around a table and brought their ideas about Jameson and where to go from here. Its as if I couldn't have dreamed it up any better myself. :)


The two big reasons we've been going up to Mayo so often in the last 9 months, are his seizures and his breathing issues. We do still see doctors for his kidneys, spine, bladder, eyes, etc but those things are much more controlled at this point. The respiratory issues and the neurologic issues are the big things that continually change and have to be managed and re-managed on a constant basis.


Since little man's airway surgery last summer, he's been on Bipap when he sleeps at night. While the surgery helped to remove a lot of the obstructive components that were causing his obstructive sleep apnea, he still has central sleep apnea due to parts of his brain that just never fully developed before he was even born. Because his brain doesn't always tell him to breath or take deep enough breaths, the Bipap machine works to help him do that. The biggest issue we've faced since starting the Bipap is that Jameson has a hard time swallowing a lot of secretions/saliva that builds up after he falls asleep. Partly because people with neurological issues have a hard time swallowing (controlled by the brain) and partly because after his surgery he lost a lot of sensitivity in his throat so sometimes he can't even feel when he needs to swallow. The botox injections we've been doing are helping because they prevent the salivary glands from producing so much saliva. As long as the botox continues to work for him, his team wants to continue with this plan of action. We've had many conversations with them about Jameson getting a tracheostomy to basically bypass all the upper airway issues and give him a safe and effective airway that he can be on Bipap comfortably. Obviously, the tracheostomy comes with a lot of its own complications, so for now we continue with what we're doing and perhaps won't need to go down that road for a while or ever.


The other big hurdle has been seizure control. We came to the inpatient epilepsy monitoring unit at Mayo last Friday night and got 24 hours worth of movements captured on video to assess where he's at. While his EEG is still very messy, we were happy to find out that many of the movements that we thought were seizures during the day, in fact aren't. The doctor called them paroxysmal movements; which many people with different neurological diseases have, like Parkinson's or Huntington's disease. While they may seem uncomfortable to us, they don't seem to bother Jameson very much at all. Its just like his brain has a little more hyperactivity than the rest of us, and that translates to more outward movements. Either way, we're happy that many of these movements he's been doing aren't actually seizures and therefore we don't need to treat all of them with such heavy duty seizure medications. He is still having seizures every day but the big scary ones are few and far between. So we're working on trying to back down on a couple of his medications in hopes to seeing a little more interaction and clarity from him. I can only imagine how difficult it is to want to play and work in therapy when you're being sedated with so many medications. We hope that as we continue to find the right balance, we keep getting more and more of Jameson's personality to shine through.


Thanks for stopping by and reading our updates. Appreciate, as always, everyone's love and prayers!

Winter Blues

While I do love the holiday season, its also the most stressful part of the year. I enjoy spending Christmas and New Years with friends and family but along with it comes the woes of winter illnesses. Any parent hates this time of year because of all the colds and viruses running rampant through schools, church, and nearly any public place. But for parents of kids with medical issues, its even more difficult than you can imagine.


The common cold can hit people in many different ways....usually a low grade fever and maybe some coughing and congestion. For kids that have respiratory problems already, a common cold hits them like a freight train and then compounds over time to cause permanent damage. Jameson has a chronic respiratory condition called Bronchiectasis. This is where his lungs have become inflamed and damaged over time due to so many upper respiratory infections (colds) during his lifetime. Each time he gets a cold, it causes a little more scarring and damage that isn't reversible. There's no cure and no treatment. The only way to help slow down the progress of something like this is to keep him away from sick people as much as possible.

This winter season has just begun but little man is already on his third illness. I had a lengthy conversation with his pulmonologist about this and the decision was made to pull him out of preschool for the time being. I'm sad about this because Jameson has had a great time socializing and being at preschool for the last few months. But I'm also on the same page with the doctors that we need to get these illnesses under control before we can think about school again. So he will start a new round of antibiotics today and have the rest of the winter to cuddle up at home and hopefully stay healthy.


While I don't like the idea of him being in a bubble, we also have to know when things are worth the risk and when they're not. That's just the life we live. I want Jameson healthy and happy for as long as God allows him to be with us, so if having to stay home for the foreseeable future gets us there then I'll take it. We can make any situation work and still manage to have fun adventures and check things off the bucket list even in winter! Thanks everyone as always for your love and support. :-)