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.


                                                  

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.

Lab Results... Being Part Of The X-Men

Finally, after 10 weeks we have our results of Bruce's labs. 10 weeks later was a long wait for all of us. On a good note he has been feeling better and moving around better. Bruce is walking, wants to run but can't and that's frustrating. He still fatigues easily, legs hurt as well as his muscles. Bowels are still the same as always "extremely sluggish" and the restless legs are starting to ease up on him. His stiffness has gone...YaY! He has continued with his Physical Therapist. There is a lot of improvements. He still has exercise intolerance as well as heat intolerance but were trying to work through it. We have to learn to pace ourselves. He has found a bit of freedom and its hard to stop him. It just takes time. This sounds like its a mix and im all over the place and I am... or we are. Hes getting better but not. We see improvements but its kind of like putting a band-aid on it. So in order to get the utmost help from his vitamin cocktail we need to know exactly what he has...and yes am hoping that the doctor in Atlanta can find it.

Our lab work came back in the grey area. Have no idea as to what I'm saying because it is very confusing. I guess you need two tests to come back positive and Bruce only came back as having one positive gene. Our Neurologist and the gene lab suspected that the second gene is hiding or silent. It's there it's just not showing itself. She wanted us to see another Neurologist before doing anything invasive but what ever another Dr says who doesn't eat sleep and breathe mitochondrial disease would be a waste of time. Yes I think you should get a second opinion. Not in this case. Since his first muscle biopsy was part inconclusive and part positive and he's doing better on his cocktail of vitamins (which shows their is a problem)...it's just going to the right doctor to clear this up. By clearing this up I mean by getting a muscle biopsy again along with a lumbar puncture. By no means are we ever or will be ever in the clear. I can not say oh good, take your vitamins your on your way to beating this and I can have a clear mind. Yes everything I have done and fought for is coming to a finale but only time will tell what direction Bruces body decides to take. This has taken a toll on me...from crying in the shower to my hair falling out and it aint from hormones. Again, he looks good but damage has been done internally and can continue. I am hoping that with the right combo of vitamins this disease can at least be slowed down and maybe put on hold. Which disease, is still up in the air.

So...The Test that were requested: Combined Mitochondrial 140 Nuclear Gene Panel/Sequencing and Deletion analysis of the Mito Genome and Sequencing, and deletion/duplication analysis of 140 Nuclear Genes.

This is the interpretation: This individual is heterozygous for a G79D variant (likely mutation)in the SUCLG1 gene. Mutation in the SUCLG1 gene are associated with the autosomal recessive disorder mitochondrial DNA Depletion syndrome 9. No second variant is identified. However, the possibility that this patient harbors a second mutation that is undetectable is suspected.

This gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The Amino Acid change is non-conservative in that a small, uncharged Glycine residue is replaced by a larger, negatively charged Aspartic acid residue. This change has occured at a highly conserved position in the SUCLG1 protein and analysis models predict that G79D is damaging to the SUCLG1 protein. Therefore, G79D is a strong candidate for a disease causing mutation.

So...as soon as I said mutation...my son thinks hes part of the X-Men! Hes ready to go to Atlanta.

We have started the paperwork with the doctor in Atlanta. We are waiting for them to give us a date so Bruce can stop taking his vitamins. He needs to be off all vitamins to get a clean biopsy. This means Bruce will go back down a long road that we all don't want him to go down. At the end of that road he can start his cocktail back up and then we wait another 12-16 weeks. We won't know anything until next year.

It all sounds great and were making headway...but if the gene can be passed which it normally is to a daughter we will have to look at my daughter as well, this disease can come out any time in her life not to mention that there is a very good possibility that both could pass this along to their children. Then you have to think about the possibility of not having children. Their are so many variables at this time and its so confusing I cant even write about it. I do know that this disease could be mild or complex for them and for their kids and I don't want this for either of them.

A Mix Of Emotions

I am tired, scared, happy, sad, mad, guilty, foolish. There are feelings of inadequacy. Humility is a good word...I could go on and on. I think so many emotions have touched me over the past couple of months. I am tired because I have tried to help and fix my son for years. Yes I know I can't fix everything but I'm mom and I guess that is a good enough reason to make me feel guilty...because I can't fix my sons health...but I'm sure as hell going to try. It's what you do. If it doesn't get fixed or you are trying to help and nothing's working and to see your child hurt is very difficult. Then the sadness creeps in because I have gone to great extremes and have been to many places to help my son and the sadness is seeing that all my efforts have not helped. Anger sets in because I have been to so many places and seen so many different doctors that one would say I have too many cooks in the kitchen...but none of the doctors ever said the same thing which just confused me and I needed to search for my answers myself....and this is where I feel foolish. Foolish to think that I was going down the right path...I felt like I could breathe because I thought I knew what was wrong and had it all mapped out...if Remicade doesn't work I had Humira, if UC flares we would know the drill on taking Bruce to ER and immediately starting IV prednisone and would wait and pray that he wouldn't have to take his colon out. I got comfortable that I had a game plan. I was just getting to feel at ease with Bruce's illness. Enough for me to stop researching nightly. When I say at ease I don't mean I stopped worrying but to me once you have a label you can say ok...we know what it is and now we will do our best to combat this illness and help Bruce get through the rough parts and rejoice in the other parts of life. I was scared that Bruce had one more medication left to try, scared of the MTX causing such brain fog and confusion for him. Scared for his future.

I have to say that my worst fear was the fact that we had a surgery date set last year of Bruce needing a colostomy. I did what I had to in preparing my child for this procedure. We accepted it. When things changed and Bruce started to get better we were so confused because of what we were told. He will need his colon out later due to a grand possibility of having colon cancer before the age of 20? Also, he would have a very good chance of not having arthritis anymore. Yes it's good to know he didn't need a very large organ removed but we were scared that he would flare like this often because we were having a hard time keeping it under control. Now I have no idea what he has. So my hope is that we were just looking down the wrong road yet now looking into another scary disease...mitochondrial. This disease can mimic other diseases and can be very confusing. It can also be progressive.

I guess I needed to get so angry and feel that we were getting nowhere. It's very hard to see your child in a wheelchair who can barely get up and have a doctor tell you I'm sorry but I don't know what to do for your child. I don't know what's wrong. I'm not mad at the doctors just frustrated. We were looking at one disease only to find out its probably not the right illness. It would explain a lot!

I feel out of place...I don't know why. I don't know what to say to people who know Bruce had JA and UC. Yes he's feeling better. I feel the need to explain. Oh that's good, they say...but they don't know JA much less mitochondrial disease. At this time Bruce is being checked out next week by a cardiologist. He will have an echo and a ECG done. Mito disease can affect the heart. He will also have a sleep study done. He has a hard time going to bed and staying asleep because his legs want to move. So restless leg syndrome is something that we have to look into because it can show up in mitochondrial disease. He has had this maybe once a month every so often. Now it's every night for the past 2 weeks. Tonight he just told me that he's been waking up very cold at night...I'm not sure what this means. I asked Bruce to wake me up so I can check his temperature when this happens. I will have to call the neurologist. I have a new set of worries. He still is stiff and fatigued but not as much. Legs are tired but we see an improvement. Colon still not doing its job and now a couple of things that have come up in the past couple of weeks to check out. What worries me is the fact that this disease can be progressive. It all depends if you have a mild case or more complex.

As we have progressed through the last couple of years...I find it very hard to take Bruce to a doctor or procedure that will hurt him. I do not want him to hurt. I freak! Not in front of him, again in the shower or behind closed doors...see a couple of weeks ago Bruce got a Chalazion in his lower left eye lid. It was right where he had a procedure that was needed to create a tear duct that was missing. It was large. About the size of a pea, which doesn't sound like much but it was causing his lid to slightly droop forward. So we took him that day to his eye doctor. Eye doctor says hot compresses and some steroid cream and it should be better in a few weeks. By nighttime it looked bigger. Which didn't seem right because the heat is supposed to shrink the lump. It didn't and the next day it was a lot bigger than a pea and let's add a red line coming down his face. I told my husband that we have to go back to drs, Bruce couldn't even touch the lump. I was sick and couldn't go so Bruce took him and me knowing what they would do. It would be lancing, or a cortisone shot...neither is a comforting thought. Sure enough it needed to be lanced and Bruce did so well that the doctor was amazed. oh Bruce bared down and it hurt...bad...but he got through it. Didn't squirm, scream, nothing. Just a growl! Me...not so much. Bruce had an infection and it needed to be drained. I was at home when my husband called and told me...I just cried. Cried because he had to and has had to endure so much. This is how I feel thinking about another muscle biopsy and a lumbar puncture that he will go through. It's made Bruce stronger but mom weaker.

I'm not falling apart. Just venting....and I do vent. I am thankful for an understanding husband and a great psychologist. I am thankful that we are going down a different road and that things are looking better for Bruce. I just feel like I'm back to ground zero. I honestly wonder what the last 4 years were for my son. I sometimes wish I could look into a crystal ball and know the reasons why things are the way they are. Im a firm believer in lessons. Lessons are what God gives you to make you wise. So that you may pass down your wisdom to your children or anyone that is in need of it. I believe that my lesson is to help Bruce get through the last 3 years and the future. Bruce's lesson is to get through it and come out a better person because of it so that he may help others who need it. Courage and understanding is what I see in my son. And love...I see love.

What Is Mitochondrial Disease

About 1 in 4,000 children will develop Mitochondrial Disease in the United States by the age of 10. It is for many patients an inherited condition that runs in families. It is genetic. It is important to determine which type of mitochondrial disease is inherited in order to predict the risk of occurrence for future children, although their can be random occurrences without the disease affecting other family members.

Mitochondrial disease is a result of failure of the mitochondria. Each cell except for red blood cells have a special compartment or hub. Mitochondria are responsible for creating more than 90% of the energy needed by the body. When they fail, less and less energy is generated within a cell. Cell injury and even call death can follow. If this process is repeated throughout the body, whole systems begin to fail.

Diseases of the Mitochondria appear to cause most damage to cells of the brain, heart, liver,skeletal muscles, kidneys, endocrine and respiratory systems.

Some cells are affected more than others, which include loss of motor control, muscle weakness and pain, gastrointestinal disorders, swallowing difficulties,poor growth, cardiac and liver disease, diabetes, respiratory problems, seizures, visual and hearing problems, lactic acidosis, developmental delays and children who are more prone to infection.

Because mitochondria perform so many different functions in different tissues, there are hundreds of different diseases. Each disorder produces a spectrum of abnormalities which can be confusing to both patient and doctor. Adults can have mitochondrial disease but can be even harder to diagnose due to the aging process which deteriorates the mitochondrial function.

Mitochondrial disease is difficult to diagnose. Referral to an appropriate research center is critical. Diagnoses can be made through a combination of clinical observations,labs,cerebral imaging, muscle biopsies and cerebral spinal fluid. Sadly, many patients do not receive a specific diagnosis.

Most of this is from the United Mitochondrial Disease Foundation. There is so much information to understand and its a bit confusing. If you would like more information please look at this website www.umdf.org.

Different Direction, Doctors and Different Diagnosis For Bruce

When I got home from NIH. I made an appointment with a podiatrist. After this appointment I started seeing things fall into place. The podiatrist looked at Bruce's Achilles and said that his flat feet wasn't the main problem. His Achilles in both legs was very short and before he would give Bruce orthotics he wanted Bruce to see an Orthopaedic Surgeon in Orlando that specializes Achilles lengthening surgery. OK!!! Very scary. We were looking at both legs and a long recovery time from what the podiatrist told us. But this woman is amazing and does them all the time. I made an appt for Bruce and got lucky it was 2 days later. The next day was an appointment with a Geneticist.

When I got home I started doing research on muscle diseases. After reviewing his muscle biopsy and looking things up that I have no idea what I was reading...things to me didn't look correct...not sure how I waded through it all but something was off. I made an appointment with a Geneticist. I thought it was going to take months but I got one within a few days. YAY!!!

The Geneticist looked at Bruces muscle biopsy and said the testing was vague... that he had mild mitochondrial proliferation meaning there was a problem they just couldn't identify it nor label it. They also didn't do all the testing that could of been done. So part of that muscle biopsy was inconclusive. You have got to be kidding me. 2 inches of flesh taken from Bruces thigh and its inconclusive! After a thorough review of Bruce their are some things that were off. His gait, Achilles, fatigue, toe walking, Gowers manuever, Cognitive problems, fatigue and muscle weakness. She decided to put Bruce on L-Carnintine and Coenzyme Q10. She felt that he was losing energy in his cells due to a mitochondrial disease. If she knew what disease he had she would put him on this little cocktail of vitamins anyways so we would try these and we would know if they work or not within 2 months. They either do or don't. 50/50 chance. Bruce Jr thought this was ridiculous. Vitamins? Their not going to work. But we started them immediately after some blood work was done. The Geneticist said that we would go ahead with genetic testing in about 3 months but it would be expensive...insurance doesn't always and most likely wont cover...but once again it one of those diseases that don't have to show something in lab work. So we take the vitamins.

In the mean time we go see the Orthopaedic surgeon who takes one look at Bruce and told us that we needed to see a neurologist. I said we already went to a neurologist in the very beginning, he said Bruce was fine in that department. She says, he is not and that she would make the appointment for us. It took a month to see the neurologist.

Bruce Sr and I decided to pull the plug on Bruces Remicade infusions and his MTX. The MTX was making it so hard for Bruce to concentrate..he was not speaking clearly. His words were getting all jumbled. Words were not coming out correctly. We saw no improvement with the Remicade...so what the heck. We had nothing to lose, it was obvious that it wasn't working. Before we did this we saw his Gastro Dr. who gave his blessing and said that it would be fine to stop the infusions. Bruces last colonoscopy was normal with no signs of disease... in fact a most probable remission. He understood where we were going with this. His colon doesn't work...It doesn't move unless he is given Myralax. 2 adult doses every day. If he doesn't get it one day, he wont go for 3 days. I kid you not. He thought the possibility of a muscle disease was a good road to go down because that might explain why his colon wont move, since its a big muscle. He is great. He said that going off the Remicade would not cause him to go into a flare. We would still continue to take the maintenance drug ASACOL and a lot of the times that's all kids need. We secretly wonder if he now had UC or if it was exacerbated by the medication and a bacteria build-up of onset of severe constipation.

We just saw the neurologist this past Thursday. Bruce has been off Remicade for 9 weeks. He has been on the vitamins for 8 weeks and we see much improvement. No wheelchair, He can bend, squat and move without pain, his fatigue is diminishing although he still tires and needs time to sit if needed.His muscles still hurt but anywhere near the pain he had before. His stomach ache is subsiding. He is thinking clearly except for the forgetfulness and Dysgraphia (cant write and put down thoughts at the same time) which the Neurologist says will always be there. The neurologist was pleased by the overall outcome. But in order to make sure we are doing everything for him we have done Genetic testing on him which is about 3,000.00. It will take 8 weeks. These tests will determine if he has one of 500 diseases out of 2000. Testing only knows 500. We then will take Bruce to Atlanta to see a Dr who will do another muscle biopsy and lumbar puncture. This Dr has the facility to look at fresh biopsies, because that's what you need and this is all he does. If its altered in anyway it becomes inconclusive, hence the last muscle biopsy. The Neuro said that with mitochondrial diseases a lumbar puncture needs special attention and she would send him to the best to get it done right so Bruce doesn't have to do any of this again.The only thing that will be difficult before we go to Atlanta is that he will have to be off all vitamins...which will probably not be good for Bruce and he will go back to feeling bad if not worse.

So a lot has changed... My husband and I feel like we have a plan and in a short amount of time have accomplished sooo much..I will go into greater detail of exactly what Mitochondrial disease is. I will also go into detail about how I feel about the last three years and how I feel..guilty,guilty,guilty
THIS DISEASE CAN mimic so many other diseases in the beginning. Through the Gene process we may be able to see exactly what sequence is out of place...hopefully

OUR 2nd TRIP TO NIH

Our trip to NIH was bad and good. Bad because it was exhausting and Bruce was at his worse which makes it hard on him. Good because I left NIH with a new direction and purpose. This trip was for both of us. On the surface, I expected to get answers and to help my son feel better. Both Bruce Sr. and myself were already thinking that Bruce would start on Humira which would be the last medication for both Spondyloarthritis and Ulcerative Colitis. We were worried that like the rest of the medications this one one would stop working after about 3 months and we would have to start putting medication cocktails into him so we could keep down flares from both diseases. Remicade was no longer working and the amount of Remicade going into him was at its max. As for myself, I was a second thought. I came along for the ride maybe to help my son through me in any way possible. If I could shed some light on myself maybe we could put that to good use for Bruce. Boy was I wrong. I learned a lot from this trip.

When you go to NIH there is a lot to do... admissions, papers to sign, exams, x-rays, Full Body MRI's, blood work and finally hopefully some information from the team of doctors. You come in on a Monday and you leave on a Friday. Its exhausting and I fell apart. I was so emotional. I felt like crying every step of the way. I think maybe I knew deep in my heart that I wasn't going to get any answers or any solid facts. and I didn't.

I was and still am so tired of different thoughts from different doctors. The doctors that I saw in Florida for myself all said that I had some type of Spondyloropathy. X-rays all showed problems and I was even told to start Humira. At NIH? They couldn't see anything, so to them I didn't have arthritis??? Oh but they did tell me to go see a podiatrist. I have high arches and maybe that was my problem. The Dr even said don't go home and tell your husband that I am sending you to a podiatrist. I had already started MTX which helped my hands but another doctor said it would not. They told me that the Gluten Free Diet would not help and I thought it wouldn't but it has. I have been over 100 days of eating Gluten Free and I have minimal aches and pains. My hands don't hurt anymore. I stopped the MTX injections.

As for Bruce...lets just say that I was an emotional wreck because they could not offer me anything new. They wanted Bruce to stay on the Remicade because they felt it was doing something because the MRI showed no problems in his SI joints, no fluid, swelling inflammation...nothing. His labs were normal except for blood in his urine. Your supposed to have 0 to 2 and Bruce had 147 RBC. This he gets often and can not be explained. They were afraid of changing to Humira due to the possibility of a flare of his UC due to the change of medications. They saw him get in and out of his wheelchair, they saw him fatigued with stomach ache and some enthesitis. Again they thought it was due to Pain Amplification Syndrome. I was told that if Bruce started the Amitriptyline nightly that that would greatly reduce the stomach pain and the pain amplification...which I thought was just another dumping ground when they don't have any answers. Bruce has been on Amitriptyline for a few months now if not longer and it has helped with sleep but not stomach pain or pain from his muscles. They could not tell me why he has so much weakness in his girdle area. They didn't know. Again with the pain amplification because x-rays were showing no inflammation in the SI Joints. His stomach pain and pronounced constipation was from IBS. They did tell me to see a podiatrist because Bruce has flat feet and that would be contributing to his back problems which made sense but not to the extent of him being in a wheelchair and fatigued. When we talked about the worry of trying Humira and it being the last medication and that I was afraid that it would stop working within three months, one of the Dr's had wondered if any of the medications had worked at all. The Dr had explained that when patients experience a placebo effect on new medications its about a 3 month time period that the patient subconsciously thinks that its working. When Bruce was taking Oriencia it would of not worked immediately like Bruce said it did. It takes 6 months to work. Bruce was upset. He thought that we might of thought he was lying and they had to explain that he wasn't it was his body that wanted the medication to work...he wanted to get better. I left there crying and a mess. I was so confused and wondered what we were doing the last 3 years. I was scared.

SO...the big question...Does he even have Juvenile Spondyloarthritis? The Dr's say Oh yes, he does and the Remicade is really working with both diseases. We will send you down to Rehab Medicine and get checked out for there thoughts on orthotics. This was very eye opening. If I didn't ask to have Bruce checked out for orthotics Bruce would still be in the same place that he was before our 2nd trip to NIH.

The Dr at rehab medicine thoroughly looked over Bruce. He took me aside and said that he felt that Bruce didn't look like a child with JA. He shook his head and said he looks like he has a muscle disease. He told me to see a podiatrist for orthotics and to see a physiatrist. I was leaving the next day. I felt at the time I had accomplished nothing. They gave me nothing. I know I'm supposed to go there to help in a study...to help them understand but I wanted something back too! The more I thought of those last few days the more upset I would get. It took time to process all of it. By the time I got home I was mad. But I was going to go in a different direction. I was tired of all the different answers from Dr's who told me themselves that they only know what they see. If you put several different Rheumatology Dr's in the same room, each Dr would have their own opinion. That was not very reassuring.

On the ride home from the airport I had made my mind up to see some new specialists. We would go down a different path for Bruce and hopefully get some answers.