Neuro surgery and hematology update

Our whole family took a trip to Riley this week including Brocs nurse too. We learnt a lot more about Broc and Mark. Lots of things were explained in more detail and we have a better understanding now.

Seeing Dr Smith was a great appointment. She was very straight forward and no beating around the bush. I had emailed her about Brocs urology issues and the first thing she showed us was how big his bladder was while he was under anesthesia for his MRI last year. It was huge to say the least. They have ordered some urology testing for Broc along with some ultra sounds too. We will test how his bladder functions and how his brain responds to it. We will also be able to see if the nerves are working properly. Once we have the results we will know if Broc will be having Tethered Cord surgery or not. We have been told what issues can he helped with the surgery and others that cannot.

Dr Smith spoke at length about the Chemical Meningitis that Broc had after his brain surgery as well as the extensive healing issues we had. If we do decided to go the surgery route Dr Nalepa will be helping us with pre meds to try and prevent the issues we have had before with surgery. Slowly but surely we are learning what is happening with Brocs body and how it wants to be treated.With this new information we are able to make better decisions about his care.

Both Broc and Mark will be having MRI's later this year to keep an eye on their spines and brains. We were told that typically if one member of the family declines with their Chiari there is a very good chance that the other siblings will have the decline as well especially when there is a connective tissue disease involved.

If Broc does not end up having the T.C. surgery now then we may have to consider it later on down the road depending on what his MRI says later this year. We will also proceed with the Motility Testing as soon as possible to see if we can figure out why his GI system doesn't work like it should. Even if there are solutions to help Brocs GI system they may not be a viable option for him as we will have to way the risks and benefits due to his compromised immune system.

Dr Nalepa finally got to meet the whole family. He is very intrigued with our family and our boys genes. We did find out that Broc does have NK Cell Deficiency. We are in the process of testing his T Cells and a few others too. This diagnosis will explain why Broc continues to get viral infections. He doesn't have all the defenses his body needs. He will be starting IV therapy again to try and help his body. The Therapy doesn't prevent him from getting ill but it does help his body when it does get ill. It will hopefully help with his crazy sensory issues that he is dealing with now too. His sensory has gotten so bad that sometimes he ends up hurting himself because he is not paying attention.

We also tested Mark for the same mutation that Broc has. Those results will take a month or 2 to come back.

Unfortunately Brocs body will only decline over the years until he is made whole again in the New World. Our goal is to give his body all the support it needs to function on a daily basis and to give Broc the best quality of life. It will be a busy couple months coming up.

Broc got a new Charlie (his IV pole). He loves it and so do we. He can draw on it with washable markers. He can hang all his toys on it. Best of all it hold all his IV bags and fluid bags and pumps all at the same time without tipping over. This is such a blessing for us as he was getting bruises daily from his old IV pole tipping over from being too heavy on top and very wobbly. The handle around the middle is great for when he needs to hold on to something to steady himself on the rough days.

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

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.