Update

I took Jack to the doctors the other day. He had a sinus infection and bronchitis. They said it kind of sounded like croup, but with Jack it is hard. They put him on antibiotics and told me to do his steroid puffer and albuterol treatments. He is doing better today. Still snotty, but it is almost a all the time thing with him. If it is not a cold it is his allergies. The cough sounds kind of bad, but he is feeling much better. He slept better the last few nights. He only got up once or twice instead of numerous amounts.

I talked to Jack specialist here yesterday. I filled him in on all that is going on. As far as the stomach he talked with the peds GI here. He said he thinks we should go to Rochester for a 2nd opinion since we are seeing little improvement. Depending on what they say we will try some possible treatments for a stomach condition that kids with mitochondrial disease can experience. If still no luck then possibly Boston. I told him about the new added diagnosis of the hyper mobility syndrome, Ehlers-Danlos 4 . He was surprised that she diagnosed Jack with that. He has never seen a kid with mitochondrial disease have that. He said he knows Jack is extremely flexible, but didn't realize the severity. I told him she took Jacks leg and put it behind his head. I also told him that while we were there she called the specialist in Cleveland and he was not surprised at all with this diagnosis. He said that he must have seen it before with mitochondrial disease then. He told me some of the seriousness of it and things that need to be watched. I then told him about the immune testing they want to do and he said he agrees. I also told him what the rheumotologist said regarding the adenoids. He said he sees her point, but if there is any obstruction of the air way then due to the mitochondrial disease the obstruction should be removed. He said to go get the immune testing done and if they find anything to have the ENT contact her. He said he would still say remove the adenoids and possibly leave the tonsils if there is an immune disease or disorder. He definitely said to go get Jacks eyes looked at again. He had said that before the added diagnosis. He and her have noticed somethings with the eyes. He also said to have her report sent to Jacks cardiologist and call them and tell them of the new added diagnosis. Then see if they want him to come in before his next scheduled check up or to wait. Then he said to also get a referral to a allergist. The allergist he said possibly even before the GI second opinion if possible. He now thinks the stomach, immune and everything else all goes together and fits in the mitochondrial disease puzzle. He said maybe not because of this issues it caused that, but he thinks now after seeing the biopsy, new diagnosis, immune issues, and me telling him all that has been going on with Jack that everything might end up fitting. Jacks sedimentation levels are always high and he is now thinking it could be caused by something going on with the immune system. The stomach I think he is thinking could go along with some type of allergy thing.
So this week coming up I will be taking Jack to an appointment and after to get the blood work for the immune testing. I am waiting to hear back on the referrals. We are keeping the current surgery date and it looks like regardless we will most likely keep it. He said to do what the rhuemotolgist and the specialist in Cleveland said regarding medications and hopefully they will start to help with his pain.
I never realized how hard it would be to make sure he gets all his medications each day. The once a day ones are easy, but the two and three times a day ones get hard. Plus they taste nasty and I cant even stand the smell of one of them. He is such the little trooper. That was about it...I think for the conversation. I do really feel like I am forgetting something important....I guess I will add it in another blog if I did.

I am also filling out forms to get reports and calling doctors. Jacks appointment schedule for November is crazy. It is getting very hard to keep any type of job. This kind of stuff is were sometimes I wish I had help. My husband has two jobs and cant help much with appointments and taking time off. Keeping all this straight and calling in prescription, dealing with insurance, doctors, reports, calendars and everyone in the family schedule is becoming a full time job. One I do when I can or very late at night. I am not complaining...God has given me the strength to do it. Yet,I would be lying if I said it doesn't get draining or hard. Sometimes I feel overwhelmed. I still have all the regular things of life to deal with and a marriage and another son. I try to balance it all. It is just like sometimes I say is this really real or am I dreaming. Then I realize I am not dreaming and it could always be worse. God gives me the strength to keep going. I just hope and pray I do a good job and make the best choices for both my boys. That is one of my biggest fears is to make a bad choice for my family.

There is just so much I want to do. Be a good parent, friend, family member, wife...and I feel like I don't have the time. I haven't had time with some friends in forever. Hard time fitting in family....time for my husband....I don't want to let anything pass me by. I don't want people to think we have changed or don't care about them. I just hope people understand.

Jacks attitude and my other son is what keep me going. Jack acts is if everything is OK. My other son always has words of encouragement even though he doesn't know something is wrong. They deal with things so well. I guess that is why the scriptures refer to us adults being like children. Jack and Noah are such blessings! We as a family are going to have such a testimony. I think in some ways we already do!

Update on appointments

We went on Friday to see a Rheumatologist at the children's hospital in Rochester. It was another frustrating appointment for us. Lots of questions and not to many answers. More tests for Jack also. After listening a little about Jack and reading what she had from his specialist here she did an exam. She said Jack has Hyper mobility syndrome-Ehlers / Danlos 4. We pretty much new he had hyper mobility issues. She just diagnosed it with a name. She said in her opinion a long with the mitochondrial disease causing leg pain, that people with this syndrome can have a lot of leg pain and issues such as we described with Jack. She said they would prescribe medication to help with the pain and all doctors should be aware of this diagnosis when evaluating him. She called his specialist in Cleveland while we were there. The medication he put him on for the muscle and or nerve pain is not what she would normally prescribe but she thinks it will work fine. She also said it is a better choice for Jack now that he is having all these stomach problems. She said once and if they get resolved the stomach issues and the current medication doesn't help then we can try something else for the pain. There are some things that should be monitored with this syndrome. They are also the same things he needs monitored for the mitochondrial disease. They just need to know he has this syndrome also so they can look deeper. She wants him to go back to the eye doctor and have the lens of the eye checked and the cartilage. When he does his follow up with the peds cardiologist she wants his heart valves checked.
Aside from all that she is a rheumatologist who also sees kids with immune issues. She was a little surprised since Jack is always sick that immune system tests have not been done. I told her everyone blows it off to the allergies and asthma. Even more now that he has large adenoids and tonsils. She sees that point, but since birth one of my main complaints has been he is always sick and catches everything. Fevers at times that are unexplained also. Anyway she has ordered immune system function tests. She proceeded to say that we need to get these tests done soon since he is scheduled for the adenoids to come out in November. She said if the tests show he has an immune system disorder that taking the adenoids or tonsils out might not be a good idea. I told her they want them out due to the mitochondria disease and not wanting to put any stress on his heart or other muscles due to the snoring. She said in that case it still might be better to take them out. Either way she said get the test done first and if they find something they will all have to have a meeting of the minds and decide what is the greater risks. Other then that she said he has no rhematology diseases. She really didn't have much to say regarding the periods of not being able to walk at all. They all pretty much say it is muscle or nerve related. Weather it is his muscles are so weak he cant walk because they give out or he is in pain and cant walk...they don't really know for sure.

Today was suppose to be the MRI and AGAIN he cant have it done. He is very sick and has a terrible cough and fever. The fever started Friday night late or should I say Saturday morning. He started last Wednesday with a snotty nose and cough. The cough got horrible on Saturday. I am taking him today to the doctor to see what is going on and if he is contagious. We had to reschedule the MRI for November.

Needless to say we are very frustrated. He is still having the stomach issues and I am waiting to hear back from his specialist here. He called on Friday when we were on are way to Rochester. I have to go over all of this with him and see what he thought of the biopsy. Hopefully I will talk to him by tomorrow.

Frustration is a normal feeling I feel lately. Each doctor looks at everything from his speciality point of view and they have there own opinion on why this or that is going on. Bottom line most of all of this is due to the mitochondrial disease. There is no cure or prognosis and they are trying to help him with pain through medication. Medications are the only thing they can try to help with the mitochondrial disease and all the stuff that goes along with it. The GI issues are not totally fitting so hopefully they will get to the bottom of it and be able to do something. If not then it will probably be due to the disease and we will see what things we can try. It is so hard to have him sick or not feeling well all the time. It is hard as his parents to not be able to fix the problem. Coming to the reality that there is not much we can do at this point is hard. With everything it is a watch game. As things arise deal with them. It is frustrating too because due to his age even the things that arise they want to monitor and not always due anything or try something. It is a wait and See game and I think they don't know what to do sometimes. I have to just realize there is no cure or prognosis and pray the little things that they can do will start to help him have as much of a normal life as possible. I just hope he can have a life with less sickness and pain. Sometimes I say to myself he is only three...why....what if...what will be of his future...he cant do what other children can....I feel bad for him......then I look at him and see how well he deals with it all. He is so happy and doesn't let feeling cruddy keep him down. I have to believe in faith that God is in control and has a purpose for all of this.

Pray Jack gets better and is free from bad illnesses in November. He has the MRI and the surgery scheduled at this time. Pray for wisdom for his specialists regarding everything including the surgery. Pray we get somewhere with the stomach issues and that Jacks pain becomes less.