A Day In St. Louis

We took Darein to St. Louis yesterday and so I thought I would give an update on how things went. We did receive help from Children's Miracle Network for traveling expenses and they are going to reimburse us for the money we are out for Darein's brace. This is a great organization! The application process was very simple as well as the interview process. We have used them in the past but forgot how much it helps and how nice the staff up there is. They are really a great group of people to work with! We decided to make the trip in one day as Damein had a baseball game Thursday night and we decided we would get close to the same amount of sleep whether we left that night or waited until morning.
Our first appointment of the day was to head to the orthotic lab where Darein's back brace was made. They had her try it on and then would take it off and trim a few spots here and there to make it fit her a little better. It is a hard plastic brace with soft padding on the inside. She has to work up to wearing it for 18 - 20 hours a day. Once we were done getting it fitted a little better to her we headed over to the orthopedic doctor's office. The doctor came in and saw her and talked briefly. I'm not a fan of her doctor right now as he has the ego of a surgeon going on and his ego is quite huge. He is a great doctor I think, I am just going to have to talk to him quite a bit on things and push my questions and concerns in order to get a better repoire with him. I haven't ran into this issue too much but usually when I have, I find that if I just let them know that I am a concerned parent and that I do take an interest in my child then they get a little better over time. He doesn't know anything about Darein's Antley-Bixler syndrome and therefore treats her as any other child. He was pretty harsh about her weight and the fact that the more she loses the better off she will be as far as her scoliosis. I know that he has valid points and I understand where he is coming from but he doesn't know how much she has already lost and the fact that her weight was put on by all of the medication she had to take when her Chronic Regional Pain Syndrome was flared up. He will over time, learn these issue and I chose my battles this time carefully. Darein's main concern was that the back brace would help with her pain. Unfortunately, he said that it might help but that was not the purpose of the brace. He did not offer her any kind of relief for her pain other than to state that she needs to remain active and the more weight she gets off the better she will feel. I left things there for now. He measured her curve with a scoliometer and said that the curve was the same as last time. Even though he requested we bring the xrays up from Springfield again so that they could enter them in their system, he did not take them today and told us to bring them again next time so they could compare them to the xrays that they would be taking when he sees her back in two months. We will take the xrays up there one more time and then if they refuse to take them from us at that time, I will not bring them up there anymore as they will have the initial xray they need from their hospital. He thought the brace fits good and said that she can do anything in it but swim, bathe or tumble in it. She wore it one hour yesterday once we got home and we will increase it by one hour a day for a couple of weeks until she is able to wear it the length of time that she needs. We will go back to see him in June, get an xray, have the brace adjusted and padding added anywhere that is necessary and see where we are at at that time.
Once that appointment was over we drove around St. Louis a little bit looking for some place to eat before our next appointment with Darein's geneticist. I knew that Shane had told me that Springfield was known for its restaurants but I guess I never fully appreciated that fact until yesterday. We drove all over trying to find a restaurant, I couldn't believe that basically they only have restaurants in certain areas of St. Louis and then you have your choices. We finally decided on Captain D's which was one of two restaurants between the two hospitals. We showed up at Cardinal Glennon hospital for our last appointment of the day after lunch. We were going to meet with Darein's geneticist who has seen her since birth. Darein saw him until the age of 10 which is when he diagnosed her. Once he diagnosed her, he had an opportunity in North Carolina and moved there. I have kept in contact with him over the past 4 1/2 years via email as he is the only geneticist that knows much about Darein's syndrome. He had asked for some information on Darein's progress as well as some recent photos a few years ago so that he could send some information over to the United Kingdom where they continue to research Darein as well as other children with this syndrome. He told me yesterday that the article from that research is not quite ready yet but that physicians told him that she was getting close to being done with it. Darein's geneticist was extremely excited to see her and so very impressed with how well she was doing. He made sure to let her know that she was rewriting medical journals and offering other families lots of hope by her progress as she is one of the oldest children with this syndrome still alive. He tried to emphasize to her the importance of all of the research that she does and how much hope it offers other families. He asked questions about how she was doing and performed his typical physical exam. We talked about several things of concern as we as parents are still trying to figure out Darein's prognosis in life and trying to anticipate any issues we need to be sensitive to. He showed us how bad her curve was, which I hadn't had a chance to get a good look at up until this point. He stated that everything going on with her is related to her Antley-Bixler syndrome and the only thing that he's not sure about is the chronic regional pain syndrome. He says it is like "phantom" pain, which is where you lose a limb and have pain where that limb should be. Only obviously, she still has her limb. He says that a lot is not known about chronic regional pain syndrome and doctors don't understand it and are still continuing to learn about it and the causes, etc. He was concerned about how stiff her ankles are now as he doesn't remember them ever being that stiff before. He checked her other joints and her shoulders, elbows and hips have limited movement in them as well and are somewhat stiff. He found it peculiar that her knees however were not stiff, which he would have expected them to be. I told him that Darein was complaining more and more of overall joint pain so he made note of it. I also told him that she had some fused bones in her ankles as well as in the top of her ribs. Since Antley-Bixler syndrome is a musculoskeletal issues, her bones and how they develop is very important to our knowledge of this disease. Most children with this syndrome have had organ issues and therefore haven't lived to the point of puberty and so not much is known about how this syndrome will affect her bones and bone growth as she enters this age and the problems that it may or may not cause.
He also had her walk barefoot and it was noted that her ankles roll in and she is extremely flat footed. We talked about the need to get her some insoles to wear in order to help this issue. I will also start doing more physical therapy on Darein regularly to try and loosen her joints up and see if this helps.
We talked about the abnormal labs when we tried to take her off of one of her medications for her adrenal hyperplasia and talked once again about the fact that she does not have typical congenital adrenal hyperplasia and there are still puzzles with her and this disease.
I asked him if I should be concerned about any of her organs failing since most of the other kids have had problems with this. He stated that her heart is in good shape so no worries there. He said that as far as her lungs go, they should be fine. Where she will have problems with her lungs is if her curve gets bad enough that it compresses the lung that she is curving towards and will expand the other lung as there will be more room on that side. He said it would make her more susceptible to pneumonia and respiratory issues and illnesses but that with her seeing an orthopedic doctor for the scoliosis as us being aware that she has scoliosis, hopefully they will be able to control the curve with either the brace or surgery before it gets to that point. He stated that he is concerned about her adrenal glands as her adrenal hyperplasia is not typical and because of the fact that she is having to be on estrogen at this time. He is concerned of other issues that might come up through adolescence but says that we will just watch her for now. His other concern was with her kidneys as she has the left kidney reflux and spastic bladder. He says that we won't know how it will affect her kidneys at this time and that she just needs to keep up with those appointments. He was glad that she is not having to see a nephrologist at this time for any of those issues. He said that her endocrinologist just needs to continue to monitor her adenoma on her pituitary gland as that is the only thing that can be done with these unless they start changing and then decisions have to be made. Hopefully, it will remain unchanged and we will just follow with yearly MRI's.
He stated that the doctor in England (UK) wants some more research for another article that he is going to write. Therefore, he needs lab work as well as a 24 hour urinalysis. We were given the necessary equipment and instructions to get the 24 hour urinalysis and will take care of this a couple of days prior to her next appointment in St. Louis in June. We will collect this and then show up to turn it in and then labs will be drawn and everything will be shipped at once overseas. He will not see her at that time but has agreed to see her once a year now that he is closer to us again. He is an incredible doctor and encouraged me to still keep up via email if there are any issues that might be of concern to him.
Overall, it was a very productive day and it is nice to have a physician close again that can give us information about her syndrome. I do what research I can online but again, not much of the information applies to Darein so I can only use that information to get a worse case scenario of things and a general idea of issues that others have dealt with. We mostly just continue to watch her and enjoy how well she is doing. Her geneticist was very excited to get a good vibe about how good Darein's self esteem is and to know that she is sociable and was nominated for homecoming attendant for her grade.
I called Kansas City on Tuesday and still have not received a call back about her possible stones. I will wait until Monday afternoon and then if I still have not heard any more then I will call and see where we are at on that. I will check on insoles and see about finding a place that can customize some for Darein. If we are still having issues then we will talk further to her pediatrician about what else to do. I still need to call and schedule her a hearing test as we think her hearing isn't as good as it was when she started school. Now that things are starting to calm down a little, I can have a little time hopefully to make these phone calls and set these appointments up and continue moving forward on other issues.
Hope everyone has a great weekend and very thankful that our government has decided not to shut down for now and we are all able to enjoy our National Parks for a little while longer :)