Friday, October 4, 2013

Bruces Consult, The Aquarium, and Surgery Day

As of right now Bruce is waiting to go into surgery. I woke up with a calm head and heart. I guess it must be that anticipation builds and then you put your game face on and talk to your easygoing relaxed child and your ready.

Bruce's consult with Dr. Shoffner went very well. I had the pleasure of talking with him during the appointment. I had typed up a summary of Bruce's...well... life since the beginning. From the severe diarrhea, a possible Cystic Fibrosis diagnosis which he didn't have. Intermittent blood in urine, memory loss, cognitive problems all the way up to JA and the severe weakness that would come on intermittently to everything else in his life that was not explainable. Believe it when I say there was a lot to explain and doctors just could not. This doctor reminds me of Sherlock Holmes. You can hear it in his voice that he's excited to be working with Bruce to get him better. Hes looking for clues and is doing research. He was very personable with Bruce but I think his forte is the lab work that he does. His game is finding that needle in a haystack. He was happy for the summary because he was able to look at it prior and make notes and ask specific questions. I think I will do that from now on, if need be. His specific questions were related to Bruce having tremors most of his life, getting worse one day and then subsiding as well as the weakness (thank goodness for videos). His hands shook so bad he could not write his name. I took him that day to ER and they looked at me like I was nuts. Yes he still had the tremor but they didn't want to do CT scan. I had to push for it. I thought I was over analyzing this situation but the thinks that this was a big factor because it was there since he could hold a pencil... then came on strong and then went away that same day. This the way it has been for most of Bruce's life. The blood in his urine was dark, it looked like Hawaiian Punch with a consistency of Tomato Juice and now that's intermittent and not seen visually. Too much information? Probably but its where it gets interesting. Everything on Bruce builds and then it hits hard then it either disappears for awhile or it will stay with him but wont be so bad and then his body gives him something else that we have to figure out. Like the pins and needle effect from waist down. When Bruce told me.. it was pretty uncomfortable.  It had also happened before but in a weaker way. When Bruce cant stand due to weakness, he knows when its coming. He can feel himself starting to get weak, then he cant walk then he can then he cant. Up down Up down...its crazy. I have never looked at it the way this doctor had.

This Doctor thinks Bruce might have whats called Channelopathies. I have never heard of this word. It has to do with diseases that are associated with the malfunction of ion channels or proteins that regulate them. Ion channels belong to a class of proteins that are important to the flux of ions into and out of every living cell in the body. Channelopathies include diseases such as Chronic Fatigue Syndrome, Cystic Fibrosis, congenital long QT syndrome, migraine, epilepsy, periodic paralysis and quite a few others that I have never heard of before. A lot of symptoms can be fluctuating. All known channelopathies of the excitable tissues results in episodic episodes of fatigue. Neurological channelopathies are often characterized by sudden attacks of fatigue, weakness, cramping or even paralysis.  He did say that Bruce probably may have mitochondrial overlaps and that is why we are going to continue with the surgery and have the lumbar puncture, muscle biopsy and skin biopsy. He wants to see us in a 10 weeks. He said he could make Bruce better...not great but better.  Yes, He is blunt and I have heard that some people don't like him but he is not giving me any bull. When he didn't know something he didn't know! The doctor did ask me not to look anything up as it will most likely scare me and to wait for him to discuss his findings. Well...If I have never hear of a word I'm gonna at least look it up. :) So I'm done looking things up. He did say that he felt that the vitamins and Bruce feeling better was coincidental. For what ever reason his body is feeling better at this time and that's why we haven't seen anything go away completely....except for the stiffness. I forgot to ask that question. I did tell him that I have noticed that Bruce has been a little more stiff in his walking and when he gets up and down. I just thought it was because he was doing more and his body needed to catch up. It could be another episode coming on.

Bruce went to the Atlanta Aquarium yesterday...he got to see all his favorite fish. Whale shark,  Sting Rays and the Goliath Grouper. He had a good time.

 Ever since going to the Tampa Aquarium...Bruce loves the Goliath Grouper. I guess this ginormous fish loves Bruce too.  A few weeks ago while in the keys one came right up to him while diving at Looe Key. It was quite funny, he followed Bruce around like he was a puppy.

At first I thought I was looking at the front end of a shark but its the back end of a whale shark!

White Peacock
Queen, Related to Monarch
 As I am waiting for my hubby to call me when Bruce gets out of surgery I have a hobby that I found that I could do with Bruce. We catch and take pictures of butterflies...Its not as easy as it sounds, but it is fun and educational. We can now identify these beautiful creatures... Here are some pics. Hubby bought me a digital Camera but these are from my phone. I will post more from my digital

Bruce is out of surgery and in recovery. Surgeon said he did well. They took 2 skin biopsies from right leg and at ankle...not sure why. Took muscle biopsy from right leg vertically. Lumbar puncture went well. YAY...I can breathe. He will rest, stay hydrated and lay down so he wont get headache from lumbar puncture...

Yup! This was to occupy my time...or I would of wore out the floor.


Tuesday, October 1, 2013

Biopsies, Lumbar Punctures and New Atlanta Doctor

Last week was spent trying to nail down all the loose ends for Bruce's trip to Atlanta.

We are happy to find out that Bruce does not need to be off supplements for 8 weeks. After going round and round to make sure...the doctor e-mailed me to let me know that there is no problem with him continuing his supplements. They will not affect his results in any way. I'm sure I was a pain in the ass but I didn't want to get up there and find out we didn't do something right. I cant afford to start off on the wrong foot. There is not many of his kind.

Bruce has a MET Test on Wednesday morning. Fasting that morning and then they hook you up to a couple of machines to measure your endurance...Muscles, lungs, heart and anything else I don't know about. Consult with Dr. Shoffner at 1pm and then surgery on Friday at 9am. Anesthesiologist says to stick round for a day to make sure all is OK.

This is very hard for me to say but I am not going this time. It was a hard decision to make. I agonized over it for a while. When we were trying to decide on a date it was on the exact times my daughter has 2 auditions. 2 auditions Katie can not miss out on. In the theatre world, you must be there to audition. No exceptions. She has a chance to audition for a summer Broadway workshop in New York. Its a very big opportunity and a life changing experience. I can not say sorry you cant go...but she did tell me she would skip the audition, me knowing full well that she was making a very hard decision. She has gone almost every time we have taken Bruce to a doctor or an infusion. She has never complained. She just does what she needs to do. Very logical. Katie is now taking college courses and she would miss out on a lot of work. She has a full plate. When you have 2 children you must give to both and keep the balance even when one is well and one is sick (hate that word). It is really quite simple. Dad goes with son to meet new doctor and get through the surgery. I trust my husband completely and I need to hand over the reins once in awhile...we are always a team but this time it will be different. I watched them leave this morning and it was hard to know I wasn't getting into the car myself. I already miss them but I know they will be fine.

As far as me missing out on information from the new Doctor...I don't have to worry about that...Its just to complicated to understand. Cant even look things up... hubby and I have tried. HAH! You only get so much information and then um...well we haven't got a clue. I was told we have an hour with Dr S, to go over history and I have already sent him a summary on Bruce since birth. Maybe he can explain a bit better about the genetic testing we have done..but I doubt it. He will look at his own lab work since all those tests will be redone by him.

It will be a long week for me. We are a family that doesn't like to be a part. After Bruce and I talked and talking with Bruce Jr knowing he was fine that he was going with just his dad..I felt much better. Both boys going on a road trip. The only thing Bruce Jr is worried about is what leg the biopsy will be done on. Its 2 1/2 inches long. He is still numb from the first one. He's not even worried about the lumbar puncture. My brave young man. I am so thankful for the husband that I have....but its still going to be a long week.