Tuesday, December 18, 2012
Well the week for our big doc appt is FINALLY here!! I have been stressing out so much about this appt so I can't wait for it to come already. Jake is in so much pain right now. I've never seen him this sick so I know he is very full. Every day, all day, he says he hash jot stomach pain or he has a bad headache. We should of put him in the hospital a few weeks ago bit we have to keep him out of the hospital until after the surgery. He probably needs to be cleaned out before the surgery so we would ha e todo 2 clean outs and we can't do that. Thursday can't come soon enough!! I am so nervous they are going to say we need to be admitted right away. That would put us in the hospital over Christmas and I just can't do that. I need the surgery to be done after the first of the year so that birthdays are done and over with. I will update again on Thursday or Friday with now the appt went!!
Saturday, November 24, 2012
Thursday, November 15, 2012
So they tell us that we need to see the ped after our hospital visits. Sometimes I do, sometimes I dont. We are there so often that I dont go a whole lot when we should. This time I decided to make an appt with him because Jake had been having peeing issues again! So we go in his office and talk to him about it. I just thought he would give us a referal to urology and to get it seen by them. But he felt his belly and thought that he felt poop again. So he sent us right away to get an xray. A few hours later he called me saying that it came back that Jake was full...AGAIN!! So a few weeks after the hospital visit and hes back to being full. I just KNEW he was not clear. So he told us to call GI and see what they wanted to do. We put in a call to GI and nurse vickie called us back. I told her all about what happened at the hospital and she was angry! She said that she looked at the xray and it said that there was a change in the xray. Thats it! And the hospital doc said that he was fine to go?!? Both of us were livid! I told them that I want to start seeing GI every time we go now because I want them to sign off on Jake getting released from the hospital. I want them to look at the xray and make sure that Jake is all clear. Because if he is not 100% clear...then he gets right back up full again. The nurse calls me back a few hours later. She said that she had talked to the GI doc and that she said that she wants to think about maybe putting a Gtube in Jake for these clean outs. Also she wanted to do a rectal biopsy. But the GI docs dont do it. He would need to go to the general ped surgeon. So GI doc was going to email the surgeon and let me know what he says. On Monday I got a call from the nurse saying that doc mendez got an email from the surgeon saying that he agreed with what Doc Mendez said about Jake and that he is willing to do the surgeries. So today we get a call from the surgeon office and he said that the doctor wants to take 45 min to talk to us about Jake and his issues and what is going on. he also wanted to require Tom and I both to be there so that he could talk to both of us. I am a little worried about the appt but thank goodness its not for another month! So I will put the update on here once we go to the doc office.
Oct 24th we went to the ped office because Jake was having a hard time going pee. I was a little worried about him being backed up but not to much. I asked the doctor about it and he said he didnt feel poop, so that was good. He didnt know what was wrong with Jake peeing and sent us on our way. Well a few days later we were at the mall and Jake had to pee. He went to the bathroom and we all went to the bathroom as well. jake is usually the first one done and so when we all got out of the bathroom we saw that jacob was still in there. We sent Tyler into the stall and Tyler said he was going poop. I was happy so we let Jake stay there for a bit to finish. About 2 min later he comes out pretty upset. I asked him if he went poop and he said no. He was trying to go pee. He said that he could not pee and it hurt really bad when he was trying. So we went right home. Again Jake tried to pee and could only go a little bit and it was super painful. I sent him to bed and started asking people about it and if we should take him to the ER. Everyone said to take him to the ER just to check him out so we did! When we saw the PA she said that it sounded like constipation and lets do an xray to see whats going on. Since we had just bee at the peds earlier that week I knew it was not a constipation issue. But when the actual ER doc came in, I knew it was bad. He told me that Jake was severely backed up and that he had a rock of poop that was blocking his bladder and making it so he couldnt pee and we had to admit him for a clean out. I was devastated!!! I was NOT expecting it at all! Jake was upset and so was I. So they say they need to admit us ASAP. we went to the triage room and stayed there until they got us a room. They came back and said that they probably wouldnt have us a room that night and they would have to do his tube in the ER room. Once again, Jake was NOT happy!! It was something different and he did not want to have his tube there. He wanted his tube on the floor like always. But they wanted his tube in ASAP! So after 30 min of convincing him...he got his tube. And OH MY GOSH, he did awesome!!! Every time he gets his tube he crys and throws up or gags..this time he just sat there and let them put it in there. No throwing up or gagging! I was so proud of him. About 10 min after they got the tube in, they came in and said they had a room for us! It was about 10 pm at this time. When we finally got to our room it was about midnight! The doc was on the floor and we needed to talk to the doctor before we could start his meds because she needed to sign off on it. But the thing is, the doc had laryngitis. I didnt have ANY of our stuff with us and I was told that I could not leave until we see the doc. She didnt come until 4 am!! So I wasnt able to leave and get our stuff. So I had to go home a few hours later after Tom and Tyler woke up. This whole visit was a mess. We only saw the doctor one time and she came in at 5 am and didnt even go see Jake. She just stood at the door and talk to me for a few. Later that day, Jake started to get clear. So YAY we were so happy because it was going a lot faster than normal. I usually keep track of every time he poops and normally he goes every 4-5 hours but this time he was going every 1-2 hours! The next morning the doc said she wanted Jake to eat. I thought that was odd because he never is told to eat in the middle of the clean out. So he ate and he still wasnt 100% clear. The doc was going to release us that morning but I demanded an xray. A few hours later the nurse comes in and said that the doc said his xray looked good enough and he needed to eat something else. So again he eats something. During these times his poop is still NOT CLEAR but the doc wanted us out anyways. It was the worst hospital experience we have ever had!
We just went and had our neuro appt to discuss the findings from the muscle biopsy. What are the findings? Well the good news is he said that all the mitochondria were functioning at good levels. He said that it may be because where the mitochondria in his body is attacking the upper part of his body, not the lower part where they took the muscle from. However, it showed that there was particles of fat in his biopsy and thats not supposed to be in there. And that is a big sign of mitochondrial disease. So thats why the neuro said that the mitochondria in his lower part of his body could be working fine but that doesnt mean the top part is. So because of this he said that he has officially diagnosed Jake with kearns-sayre syndrome. Here is a little bit about it: Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS. Thankfully, right now, Jake only has the eye problems. His droopy eye lids and his eye muscles are very weak. But I believe he is on the road to having kidney problems. He is having some kidney issues right now that the docs are having issues figuring out whats going on. So they are putting that to the side for now until something becomes more severe. This new diagnosis is pretty hard on me. I am not quite sure why. I knew going into it that he had mito. But I guess I just kept thinking that maybe the doc was wrong and that it was just a fluke. But when tests start to become abnormal...it scares me! But it FINALLY shows me that we have FINALLY found what we have been looking for, for so long. Jake FINALLY has an answer to everything. But that still doesnt make me feel any better. Mito is a BAD disease!! It is not something we want Jake to have. There is no cure for it. There is nothing we can do to make it better. No diet, no meds, NOTHING. We can change some things to make him comfortable and help the disease not progress as fast...and we will try everything possible for him to feel better. I know that there is not a day that goes by that he is not in pain. And so I am trying so hard to lessen that as much as I can. So I guess until we know more...we just keep on doing what we have been doing!
Monday, September 10, 2012
wow its been over a year since ive written in this blog last. ouch! I always say im going to do better but it just never happens. Well Jake just turned 10! I cant believe that im old enough to have a 10 year old!! Way to crazy. I can not believe he is the big 1-0!!! 10 is such a big age! I am so proud of him and the things he has done with these first 10 years. They sure have been a tough one but he is such a superstar dealing with everything that life brings to him. His birthday this year was a little rough. We were in the hospital for most of the day. But a little begging made it so that we got to leave at dinner time and go have a good birthday dinner! Here are 10 things I love about Jake! 1. I love how much he loves music. Its so much fun to play name that tune with him and hear him sing. He is such a good singer and he is so good at remembering lyrics. 2. He is so brave! He goes through so much and he rarely complains. He makes things look easy because he goes through them like nothing! 3. He is sooo tall!! He is already 5 ft!! He is going to pass me up in the next year...I just know it! 4. I love when he gives me hugs. Its not very often I get a hug from him, but when I do...they are the best! 5. He is so smart. Being his "teacher" I get to see just how smart he really is. I love being able to see his face light up when he figures out something new. 6. He is a dish washing maniac! I think he is the only child that LOVES to wash the dishes. He will practically beg me to let him wash the dishes. 7. He is such a friendly kid. He is always saying hi and how are you to everyone we see. 8. He is always so happy. No matter what is going on, he has a smile on his face or he is laughing away. I love seeing his big smile!! 9. I love that he can out eat me! He has a big appetite on his small little body. He can eat just about anything that is put in front of him. He already have a teenage boy appetite. 10. And I love that he is MINE!! I couldn't ask for a better Jacob! He sure does bring my life joy, and I am so glad that I was chosen to be HIS mom!!