Appt update...take 2!

So we had an appt with the dietitian today.  I knew that she was going to be worried with his weight loss and so I prepared myself for that.  I didnt prepare myself for everything else that took place today.  

When we saw Dr T on Monday, he had mentioned it was probably time for a port (  A port  is a small medical appliance that is installed beneath the skin. A catheter connects the port to a vein. Under the skin, the port has a septum through which drugs can be injected and blood samples can be drawn many times, usually with less discomfort for the patient than a more typical "needle stick"). for IV fluids.  He told me that I should talk to GI about it when I saw her on the 18th.  I said ok and marked it down in my book to remember.  Well when we were at the dietitian she also brought it up.  She asked if we had looked in to getting IV fluids done at home.  I said yes, and that we had just talked about it.  She said that she thinks it would be good to start Jacob on TPN (Total Parenteral Nutrition.   It provides your body with nutrition such as protein, sugar, vitamins, minerals, and sometimes fat (lipids). TPN is used when you are unable to eat or cannot get enough nutrition from the foods you eat. )  Because he is not being able to tolerate his formula and he is just loosing weight.  So she wants him to be on it until we can gain some weight.  But she said that she isnt a doctor and would have to check with his GI doc first before we did anything further.  So she went out to go find her and came back a few min later and said that she wanted to see us ASAP so she wanted us to come back a few hours later when she had an opening.  So off we went back home for an hour and a half.  When we arrived back at the GI office, she came in and sat down and had us tell her about what was going on and what the dietitian said.  I gave her a 30 second update and she said...oh I have to talk to Dr T about all of this.and then gets up.  I was a little confused so I asked her what?  She said that she had called him and he just called her back.  She wanted to talk to him to come up with a good plan moving forward and wanted to see what would work best for Jacob.  I was so shocked.  I have never had a doctor that was willing to talk to other doctors to find a good plan for Jacob.  So I was excited to see what they came up with.  But I was not expecting everything haha.

She came back about 15 min later and said that they are going to go ahead with the port.  And that as soon as we were done with her, we needed to go downstairs to surgery and ask them to get us seen ASAP.  She wanted us seen TODAY.  However, after we went down there, I was informed that there were no doctors at the clinic until Monday.  They were all on call at different hospitals.  So we have an appt for Monday at 11 to talk about the port placement.  And then she said that she wanted to take out jakes G tube and put in a GJ tube (A gastrojejunostomy or GJ feeding tube is a combination device that includes access to both the stomach and the jejunum, or middle part of the small intestine. Typical tubes are placed in a G-tube site or stoma, with a narrower long tube continuing through the stomach and into the small intestine. The GJ-tube is used widely in individuals with severe gastric motility, high risk of aspiration, or an inability to feed into the stomach. It allows the stomach to be continually vented or drained while simultaneously feeding into the small intestine) That way it will bypass the stomach and go right into the intestines.  It should make it that he does not have reflux or throw up anymore and hopefully not have anymore pain.  Which is a good thing.  I asked her if it would solve the problem he has about him not having an appetite and getting super full.  She said no...that those feelings are more of a nerve problem with the neuropathy.  She said that some kids she has with this problem have no problems tolerating feeds.  Then she has kids who have issues and have to be on TPN long term because they cant take in feeds.  

I wont lie, I am pretty scared.  I have really wanted to avoid the port as long as possible because I know there is a chance of getting bad infections.  And that can lead to a bunch of different problems.  I know staying on TPN is not good either.  It can harm some of his other organs.  I know that none of this is necessarily great...but this is our only option right now.  We have tried everything and it seems like nothing will work.  Now that we know we are dealing with neuropathy we will try to figure out how best to manage it and the best way go around it.  Seeing Jacobs health get worse is just so scary to us.  We hate seeing him in pain all the time and feeling so sick.  I really hope this does more good than bad.  I am just so worried that it may harm more than it will do good for him.  But I have faith.  I know that the doctors would not do this if they didnt think it would help.  Its just scary sometimes.

So I guess I will post a little update on Jake. He has been going back to his old ways lately. Not tolerating feeds, getting full way too fast, getting super dizzy and passing out...all those fun things. It is a constant battle every single day to make sure that he eats and goes pee. There have been quite a few days lately that he isnt even peeing! But the doctor has reassured me that its only because he is not taking in any fluids. We cant get the required amount of nutrition in to him because he isnt tolerating much of anything. So he has lost sooo much weight! Even after leaving the hospital last month. He is down to 87 lbs. It seems fine...and there are kids who weigh more than him...but he is also 5'4 and 3 months ago he weighed 113 lbs. So seeing all of that weight loss has been really concering on us all.

So we had 2 appts today. Neurology and Pulminology. Neuro was first. I cant even begin to say how much I love his office! I am good friends with his nurse and we talk many times a week on the phone. However, I have never met her. But I saw her talking to someone today and I was so excited to get up and meet her. She asked how Jacob has been and the floodworks came out! She knows that I am very worried about him, and she says the same thing. Its so hard to talk about your child and how they are not doing good. But sometimes holding it in is never a good thing either. So she tells me that I really need to talk to Dr T about the concerns im having and she would help me figure out a good plan. So in to the appt I went. I was a little mad because he was really behind and we still had Pulm to get to. So I only had an hour to talk to him. I know it seems like a lot but our appts are usually 2-3 hours. I guess thats why he was so behind haha. He takes so much time with everyone. I just love how attentive he is. So I start talking about my concerns...all which he agrees with and then he goes to do his assessment on Jacob. And I tell him (like I have in the past) that Jacobs feet are still really tingly and that its starting to get painful now too. So he puts the thing he uses to check reflexes with on his foot. Jacob says he cant feel it. So he does it to the other foot. Again, Jacob says he cant feel it. He goes up his leg and Jacob immediately screams and says its cold! So then he checks his hands...same thing. Jacob could not feel it on either hand but once he put it up his arm...there it was. So Jacob has now been diagnosed with Nuropathy. I had no idea what that was so I told Tom to google it. He did and said that its loss of feeling in hands and feet. Well duh...thats what he has. We were so worried because he has been tripping SO MUCH more, and we have had to use his wheel chair almost everywhere we go because he has a really hard time walking. So its nice to know why. He had some nerve testing done a few months back and it showed there was nerve damage but we never put a diagnosis on it. Now with his new symptoms...he for sure has it. So what is neuropathy? Well the Peripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body.

Peripheral neuropathy means these nerves don't work properly. Peripheral neuropathy may be damage to a single nerve. It may be damage to a nerve group. It may also affect nerves in the whole body. Which is what Jacobs does. It effects many nerves in his body. Not just 1.

So on to our pulm appt. I got there and wasnt late...phew! So he read the test results of the sleep study that we did a week ago. It came back "ok" he wasnt thrilled with the results but did say it was better than he expected. So thats good. I guess his body moves 2 times every hour. And he told me that is a neuropathy thing for sure. It doesnt disturb his sleep, so thats good. Then we did a lung function test. His was in the low end of normal, so we are going to keep an eye on that for sure. Then he looked at his throat and nose. And he was fine until he got to his nose. I guess he has major congestion way up and some big fancy word was big and it shouldnt be haha. So he is putting Jacob on flonase and see if that helps. If it doesnt he is going to have to further investigate and see why its too big. He also said that if this med doesnt work we are going to have to look at his vocal cords to see if they are rubbing together. If they are...Jacob can say "I have nodes. I am living with nodes. But I am a survivor, but I have to pull back because I am limited. Because I have nodes." hahahaha...its a pitch perfect quote.

We see the dietitian on Thursday so I will update more when I go to that appt.

Around Christmas, Jacob just stopped tolerating his feeds. Every time he would get his feeds he would be in a ton of pain. So he wasn't getting anything to eat and no fluids. That caused Jacob to get very dehydrated. I have seen his dehydration symptoms so much that I can usually tell when its coming right before it starts to get bad. And I have noticed it a few days after Christmas. On the 29th, Jacob was very sick. He was lethargic, he was dizzy, his heart rate was up, and just not feeling good. So he stayed in bed most of the day. When it was time for bed, I was laying in there with him and he had a seizure. I had left to go tell Tom and started watching tv. Jacob came out again and said that he had another seizure and was slurring his speech and could not walk very straight. I got him back to bed and came back and was watching tv. About an hour later I hear a big bang. So I went to Jakes room and tried to open the door and I couldn't because he was in front of his door. I pushed it open and I tried to talk to him and to see what happened. I could not understand him at all. He was not talking in normal words. But what I did get out of him is that he got dizzy and passed out. I asked him why he was trying to get out of bed and he said he wasn't. He was confused and had no idea where he was. I got him back in to bed and went to bed myself. The next morning I expected him to feel better, but he wasn't. He was pretty much the same. So I called all of his doctors and they all told me to take him to the ER. I was about to take him and I got a knock at the door. I answered it, and it was the district nurse coming to do her 90 day check up. She saw him and said to take him to the ER ASAP. So that's what we did. When we got there, they took his sugar and it showed it was very low. So that's what they are saying caused the seizures and passing out. So they went to start an IV on him and they could not find a vein that would be good enough to give him fluids. They tried for an hour and a half and every time they would find a vein it would blow or just disappear. Finally they found one and they were able to get the IV started. They gave him a bolus of D50 which is sugar water, to get his sugars up. That worked, and then they gave him D10 fluids. We were in the ER for a LOOOONG time, when the doc came in and said that we needed to admit him for fluids because he was severely dehydrated.

We got admitted and talked to all the doctors. The main issue we had was Jacob stopped tolerating his feeds. So we wanted to start him on a new formula that would help him and start slow. We started at 10 Ml/hr and that gave him stomach pain right away. So they gave him his pain meds to make sure his stomach didn't hurt. It would take away the pain for a bit but not for the whole time it was supposed to. So they upped his formula rate by 3 every 4 hours until they got to 60. He had pain the whole time and they wouldn't really do anything other than give him pain meds. The Gi doc told me that we would just have to deal with the pain and there wasn't anything they could do. I talked to the dietitian and she thought we should change his formula. So we changed it to another kind and that did not give him any pain at all! It was amazing! So we decided to go with that formula and hopefully it helps him.

We are not quite sure why this all happened. His GI system just completely shut down and usually it goes back after some rest. But his has not and will not ever go back to normal. The disease that he has causes organ failure and we think this is what is happening to him.

Hopefully this will be the last of the hospital visits for a while. Since October we have been in the ER or hospital 8 times for a total of 32 days all together! I am so tired of the hospital, to say the least. We celebrated the New Year in the hospital. So it was a pretty crappy way to ring in the new year, for sure. My goal for the new year is to keep Jacob out of the hospital for at least 1 month in a row. So far January is out of there...I have high hopes for February.

GI appt

So for the past week and a half, Jacob has pretty much stopped eating.  He has no appetite and when he tries to get food, he has horrible stomach pain.  So instead of eating he just stopped and has lost A LOT of weight.  He is down 16 lbs in about 2 months.  He also has been having lots of issues with his POTS.  And being dehydrated.  So I called in to GI and told them that he has pretty much stopped getting food and they wanted to see us ASAP.  The doctor that we were assigned to, never sees us.  Its always the nurse practitioner and they never know what to do with Jacob.  Every time we get an appt with them they always say that they dont know what to do and has to consult with the doctor.  But yet every time we try to see the doctor, they say she has no openings for months and months.  So when the nurse said we needed to be seen, I demanded that we see the actual doctor.  But this time I said I would see ANYONE!  Well luck has it that our GI is retiring this week and so it was easy to switch doctors.  We got in to see the new one and she was great!  I felt so good talking to her about Jacobs problems.  She agrees with me and neuro that his stomach issues are all part of the autonomic dysfunction that he has.  And that it probably will never get better.  We talked about what to do to get him to eat and so she prescribed us a med that should help him get an appetite.  She said it could take up to 4 weeks for it to work so hopefully it will work soon because today, he had NOTHING to eat until he went to bed.  I figure I can get some in him while hes sleeping.  But last night he woke up with major stomach pain and turned off his machine and unhooked himself haha.  Sometimes I dont like the fact that he can hook and unhook himself.  But other times it comes in handy, thats for sure.  She also gave us some meds that will help his stomach when it hurts.  Its like Tylenol but for stomach pain.  I was very happy with this appt.  Its not very often that I go into an appt with major issues and come out feeling good!  I feel like we have some what of a plan and that hopefully this will help him eat more.  Meanwhile our amazing speech therapist is going to try to help us do some things that will make sure that he does not lose the sensation to eat.  We need to stimulate his taste buds every once in a while.  While it will never be in the cards for him to eat again, we will never give up that hope!  So we want to try everything possible to get him to eat real food again and not have all of his nutrition through his gtube.

POTS

Jacob has a new diagnosis.  Its called Postural Orthostatic Tachycardial Syndrome.  Here is a little info about it:

Postural orthostatic tachycardia syndrome (POTS) is one of a group of disorders that have orthostatic intolerance (OI) as their primary symptom. OI describes a condition in which an excessively reduced volume of blood returns to the heart after an individual stands up from a lying down position. The primary symptom of OI is lightheadedness or fainting. In POTS, the lightheadedness or fainting is also accompanied by a rapid increase in heartbeat of more than 30 beats per minute, or a heart rate that exceeds 120 beats per minute, within 10 minutes of rising. The faintness or lightheadedness of POTS are relieved by lying down again. Anyone at any age can develop POTS, but the majority of individuals affected (between 75 and 80 percent) are women between the ages of 15 to 50 years of age. Some women report an increase in episodes of POTS right before their menstrual periods. POTS often begins after a pregnancy, major surgery, trauma, or a viral illness. It may make individuals unable to exercise because the activity brings on fainting spells or dizziness.

Doctors aren't sure yet what causes the reduced return of blood to the heart that occurs in OI, or why the heart begins to beat so rapidly in POTS.  Current thinking is that there are a number of mechanisms.  Some patients have peripheral denervation (neuropathic POTS); some have symptoms that are due to sustained or parosyxmal overactivity of the sympathetic nervous system (hyperadrenergic POTS); and some individuals have PTOS dominated by features of deconditioning. 

So for Jacob it means that when he stands up, he gets super light headed and dizzy and will pass out.  And that is what we had been experiencing for the past month or so.  It is something that will forever plague him and make him uncomfortable.  Right now he cant really get off the couch without feeling dizzy.  So he pretty much just stays down laying down because thats about all he can do.  Plus being dehydrated all the time makes him dizzy and light headed.  So he is getting it from both ends.   This is a new diagnosis for us and we are not sure how it effects him completely yet so this is something we are trying to research and find out ways to treat it to make him feel comfortable.  

We did find one solution that helps him feel better.  Last week, his sats were low.  So I gave him oxygen and then got busy.  I totally forgot that he had it on and went like 3-4 hours with the oxygen on him.  When I finally figured out that he still had it on, I took it off and he said he felt so much better!  It was amazing how good he felt.  He was like a totally different kid.  He was hyper and had tons of energy again.  Of course that is always short lived because of the mito, but it was nice to see him so happy for once.  So of course seeing how good it made him feel I decided that he needs to be on it for a few hours every day.  And it has been great!  But because of this new change, his ped wants us to see a pulmonologist to make sure that this new oxygen thing isnt because of something in his lungs.  So pray that if it is, they find the answers and its something easy to deal with.  

November....the month of hospital visits

So Halloween kicked off our month of hospital visits!! And I just have to say, I am tired of it. We went in on Halloween to be admitted for some testing and to get some fluids.

The next week we went in because Jacob was having major dehydration symptoms. So we went to the ER and they admitted us for fluids and for watching us for other symptoms. He was impatient for about 2 days.

Then we went back the week after. He was having a lot of chest pain and his heart rate was crazy high and would skyrocket every time he would move. He also had some symptoms of dehydration and was just not feeling like himself. We went in and they wanted us to see a cardiologist while we were there. So he got admitted again and we had an echo and EKG and all kinds of stuff. They all came back fine so that's good. We don't have to worry about his heart for a while.

A few days before thanksgiving he started having dehydration symptoms again. It was starting to get very frustrating. His heart rate was going crazy again and I was talking to a friend and she said we should check his ketones. So I did, and they were fine. We rechecked them again a few days later and he actually had some in his urine!! It was pretty dark which means its in the high range. So I emailed our ped and he told me that if he didnt get better than we should head to the ER. Well we went through thanksgiving and then the next day he was just getting worse. So we headed back to the ER. And they gave him fluids and then sent us back home.

He felt good for a few days and then was back to where he was before. We tried this time to wait for longer than a week but it only took us a little over a week until we were back in the ER! He had dehydration again. I am getting a little irritated with this. I really wish we could figure out a solution to all of this. I am not liking that the ER nurses know us, and zelda, by name now. When we left this past time, the nurse said...if we don't see you before, have a good Christmas. I love that they know us and that they take such good care of us, but I wish we could just go 2 weeks without a hospital or ER visit!!

It has taken a toll on ALL of us! Poor Tyler has suffered in lots of ways. This poor kid has had to get thrown to the side while we deal with Jacob. His school work is suffering, his behavior is suffering, and he is super clingy which means that he is missing me for sure. Dad usually stays behind and takes care of Tyler but its not the same. I am so scared for December after seeing what November had in store for us. I LOVE the Christmas season and its so hard to do anything living in fear that Jacob is going to get sick and we will have to go back to the hospital. I know that we shouldn't live in that fear but its hard not to.

Every time we try to do something fun, its too much for Jacob and he ends up needing oxygen or he is exhausted and goes to sleep for hours or he just gets so sick he cant get off the couch. Tom and I are trying so hard to make this Christmas great for BOTH boys!! They both deserve it. But Tyler especially. Usually for Christmas we do a lot of baking and eating. But since Jacob can't eat anymore I feel so bad making ANYTHING! But then Tyler gets sad because he misses making and decorating cookies, and trains, and gingerbread houses. Sometimes we focus so much on the child that is "sick" and leave the siblings out of it. But at times they need just as much, if not more, attention because they get left out of so much. Hopefully this Christmas season will turn around for us all and we can enjoy the last 2 weeks of it!!

Tests test and more tests!

In October Jacob started having major stomach pain.  Every time he would eat, he would either throw it up, or have horrible pain.  We tried everything!  Every once in a while his stomach wouldnt hurt but that was pretty rare.  So I took it upon myself to start a blended diet for him.  I got a few recipes off the internet and started feeding him through his tube.  From the first feeding, he had NO pain!  I couldnt believe it!  He was getting food and was not in pain!  So I talked to our ped and he said that if Jacob isnt hurting then we might as well just start doing it for all meals (we just did it for breakfast for a few weeks).  Once we started doing it full time, I noticed a huge change in him.  He no longer had pain and it was great!  So we went to GI and she said that he needs more food so she has him on pediasure as well.  It is working great, so far.  He has pain still but its not while hes eating.

So because of the mito, every time Jacob has to be put under, it requires a hospitalization.  Well his GI doc wanted to do a few tests because of this new pain in his stomach and no longer being able to tolerate food.  We did a scope and biopsy and they both came back fine.  The scope showed some redness and irritation but she said that is normal because of the reflux.  The biopsy came back with some abnonrmal findings but she said that in her GI forums, they talk about this issue all the time and its nothing to worry about.  Its pretty normal.  Sooo no news there!  Of course!  But we were admitted for a few days because of this procedure and then he was really dehydrated so he needed fluids.  The bad thing about it all, was that he was admitted on halloween!  So he was not able to trick or treat and we got there too late in the day to partake in any of their halloween fun at the hospital.  So it was pretty lame.  But I got to stay home and Tom went and helped Jake at the hospital.  And Tyler and I went out and trick or treated for a few hours.  It was a lot of fun being able to spend some time with Tyler.