Broc is RARE!!

The post that you have all been waiting for is finally here. Mark and I went to visit Dr Nalepa at Riley. It was a crazy drive as we had quite a bit of crazy,snowy weather there and back. I was also not feeling the greatest and we had to make a couple stops on the way.

Onto our super appointment!! We found out that Broc has the A920P mutation in the LTBP4 gene. This means that the A920P protein is missing in every single one of his cells. Every cell in his body is defective.Thankfully Broc only has one of these variants/mutations. If he were to have 2 of them then things would have been very different. Broc may have only lived for a couple days. Once again we are very thankful for the small things in life.

This mutation unfortunately is to blame for all of Brocs issues. It is the reason his heart did not form properly, the reason his veins and arteries keep collapsing, why his GI system is not working like it is supposed to and why parts of his brain didn't form properly.There is no cure or treatment for this. All we can do is give Broc the best quality of life we can. We have a great team of Drs and Specialists to help us do that.

We still have to figure out why Broc is still getting all these viruses and getting sick so often. We were told that even people who are in severe bone marrow failure that have lower blood counts than Broc dont get sick as often as Broc does. Dr Nalepa did some immune testing on Broc when we were there and we have some of the results back. Once again ironically we are very happy. One of his immune levels came back low enough that if we need to start immune therapy again we wont have to fight the insurance for it to be covered.We are testing all aspects of Brocs immune system so that we can give his body the tools it needs to help keep him relatively healthy. Dr Nalepa realizes that Brocs immune system has a flaw in it and he is determined to figure out what that flaw is.Unfortunately there is nothing we can do to prevent him from getting these viruses but we may be able to lesson the frequency of them. If there are no big answers as to why his immune system is not functioning properly then the mutation will be to blame for that too. Brocs mucus membranes are not formed properly and could be leaking bacteria and viruses that we already have on us into his blood stream making him ill. Normally our bodies would be able to hold onto these viruses and bacteria and keep them where they are supposed to be but in Brocs case its almost like he is full of holes in a sense.

We will be going back to Riley in 2 weeks as a family. Lil Mark will be tested for the same mutation as they found in Broc. If he does have it Mark and Broc will be the only ones in the world to have this mutation. Yes you read correctly Broc is the only person in the world to have this mutation. We don't have anyone to compare his progress to. He will be writing his own book. Broc will also have the rest of his immune testing done then. On the same day we will be seeing the Neuro surgeon to discuss whether another spinal surgery will be of benefit to Broc. His syrinx in his spinal canal that was supposed to shrink after his brain surgery in August 2014 has actually grown and is putting pressure on his spinal cord causing some issues.      

We are also putting the GI Motility testing on hold until we have a clear plan from the Neuro surgeon.

This has been a lot for Mark and I to process. As parents it really makes us happy that we continued to fight and advocate for Broc to finally find an answer. We were tired of people telling us that we are looking for attention or that we are making his illnesses up. We were tired of Drs and specialists just dismissing us as crazy parents.

The next couple months may be rough but we will get through them with the help of our family and friends and of course Jehovah. Through everything that we have been through Mark and I have learned time and again to rely on Jehovah to help us get through the good and bad times.

If anyone has any questions about anything on this post or any other posts please feel free to email me or call.

Thank you for all your continued love,support and prayers.

Update on Broc

Sorry its been so long again since I have updated. Once we came home from our stay in Dec I got really sick and was down for a couple days and then the virus proceeded to invade everyone else at home.

We knew we had to keep Broc as healthy as possible so that we could take him back to Riley healthy. Nothing worse than going back to the hospital and still being ill. I wasn't feeling that best but I was able to rest a little while we were there. Broc went back to Riley for a 3 day VEEG. He was being monitored via leads on his head as well as via a video monitor that was in the room.

He was not a fan of the hooking up process as the glue smells so bad it made him almost vomit so we had to medicate him for them to be able to glue the leads on his head. Everyone still had to wear gowns,gloves and masks when they came in his room because he hadn't been cleared for the 2 viruses that he had in Dec.

We tried to make his stay as fun as possible. He got some legos and puzzles from the people at Child Life and he was able to serenade the whole of Riley hospital over the phone when he called in to request a song. He sang "Fight Song".

Once we were done we went to the hematology clinic for an iron infusion for Broc. He did really well with his infusion besides a small fever.

Broc was not feeling very well GI wise and his j line was backing up into his g so IR was paged and we were sent down to IR for them to have a look at his tubes. Thankfully both his tubes were not twisted or kinked, His system was just so slow that his motility was very bad. We came home and stopped all his feeds for 24 hours to give him a break. His GI also discontinued a lot of his medications that were not vital for him until we met with the motility clinic.

Unfortunately Brocs gj tube site was starting to hurt him and by Sunday it was inflamed,red and extremely painful. I spent Sunday texting pics to his Drs and we started a topical antibiotic cream. On Monday we went for labs as usual and it showed that Broc was fighting an infection. We took him that evening to the ped and had his site cultured. The culture came back with 2 rare bacteria. Thankfully his ped decided to start him on a strong antibiotic that evening to cover him for what he thought it was, MRSA.

This past week my dad and I took another trip down to Riley to have another iron infusion and see the motility clinic. We spent the night at Patrick and Aqua's house. Thanks guys for your great hospitality. We had a blast!!!

Brocs iron infusion went off with out a hitch. Having an iron infusion with Grandad is always fun when you are watching "Cars 2".

While we were having Brocs infusion they found out that his red lumen was not drawing back blood so TPA was ordered and given. We were told to come back after our motility appointment to have the TPA taken out and flushed. Once we were done we went to eat lunch in the cafeteria. We had about an hour to eat lunch.

We arrived early to the motility clinic appointment so we had more time to spare. Once Dr Croffie walked into the room Broc was surprisingly quiet. He did have my phone to keep him occupied too.
Dr Croffie went through Brocs entire history and read all the notes from his various drs and specialists. He asked a lot of questions and we learnt a lot. The decision was made to have motility testing done which will give us a lot more answers.Testing will be done in March sometime. We will have a lot of decisions to make once we have all the results from the testing. The testing will require Broc to been under anesthesia twice.

Broc sitting under his favorite animals.

Thank you for all the love,support and prayers.