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
Saturday, June 22, 2013
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.
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.
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