Well unfortunately nothing much has changed with our Buddy. He continues to struggle on a daily basis. We try our best to keep his pain at bay and discomfort so that he can live the best life he can.
Facebook is an easier place for me to update and google has changed a lot of their rules so I wont be updating on here as often but I know many don't have social media. So I will do what I can.
Since I last posted on his blog Broc has been admitted to another hospital for some testing. There we found out that he has moderate delayed gastric emptying. In easy terms his food /drink doesn't leave his stomach like a typical person. It likes to hang around and cause lots of issues for him, which makes eating and drinking and even tube feeding difficult for him. He was started on some medication to help his stomach contract more which is helping some but also has its own side effects.
He was admitted for pneumonia and dehydration a couple times at our local hospital. Being close to home has really been helpful so I could run home during the day to check on Lil Mark (who is not so little anymore). Broc now goes to our local hospital once a week for IV fluids to help with his pain and to keep his body stable. At times it’s still not enough but we are doing our best.
Broc is having a really hard time getting all the calories he needs. He is loosing weight slowly but we are keeping an eye on that. It really is a fine balance.
He had a great cardiac checkup at the beginning of the month. His pig valve is holding up well and we hope to get another 10 years out of it. His arch in his aorta was repaired when he was 12 weeks old. Dr H said that if it hasn't narrowed by now then it should stay that way. We can only hope it stays that way.
His vascular appointment went very well and his graft is still wide open. Dr E has some concerns by how Broc is declining and some other issues that are going on but everyone is concerned. We are trying our best to get him the best care we can.
Orthopedic will have us come back next April as Brocs legs are not quite equal yet. They are actually wanting his right leg to be a little longer than the left before they remove the plate in his knee. There hopes are that his legs will even out and he will carry on growing evenly.
Broc has been dealing with elevated bilirubin for a while now. Unfortunately it has led to him being jaundiced looking now too. His eyes also have a yellow tint to them now. Many things have been ruled out but they still haven't figured out the cause of it all. In the meantime he has been started on a medication to help lower his bilirubin.
Now onto the exciting news!!!!
Remember last year when we told you that Broc was accepted into the Undiagnosed Disease Network? We had a virtual visit with them in June and they revealed to us that a few genes were found and they could be responsible for Brocs disease. Since Broc has been declining more this year and more things are popping up that are stumping his team they called us to come and see them in Nashville this past week. The information they gave us was very interesting. They have isolated more genes that could be responsible for Brocs disease. They took more blood from Mark, Broc and myself for more testing. Once we met with Dr P on the last day he decided to draw more blood from Broc. We are still waiting for some of those results to come back. Dr P is wanting a couple of Brocs Drs to investigate some more things. He is also wanting Broc to see some new specialists to rule out more things. The info we have so far is possibly 2 options.
Option 1: is a family of 6 genes that are all coming together to cause his disease. Two of the genes belong solely to Broc called de-novo. The other 4 genes belong to Mark and I.
Option 2: Mark and I each have a variant of the same gene. These 2 variants together would be responsible for his disease. This is a new gene!!! If this option is the answer then they will put this gene into a fruit fly or zebra fish to see if it is effected like Broc is. If it is effected then this will be a new disease. It will be known as Broc Disease - well because Broc is the only one in the world that we know of that has it.
It was a very emotional couple days for us. A lot for Mark and I to digest. We still have a ton of questions but only time will tell. Things are very stressful with Brocs care right now. As parents we are doing the best we can. Finding the best Drs and Specialists we can.
Answers will not be immediate. We know it could take years before we have a concrete answer and a diagnosis for Broc. We are a lot closer than we were.
He has a trip to Cincinnati Children's next month to see his aero digestive team. We will be seeing another specialist there too. Some of the blood that was taken in Nashville was sent to Cincinnati so that will be helpful for them.
We really appreciate everyone's love, prayers and support. Please keep us in your prayers as we navigate through Brocs journey. Some things are a little concerning right now, so the sooner we have answers the better.
