An Eagle's Eye View of the Type of Care it Takes to Raise a Child With Antley-Bixler Syndrome

I was having troubles coming up with a topic to write about over the past few days as there hasn't been much going on. Therefore, I have decided to just write about the type of doctor's that Darein has to see and how they fit into our lives. She not only has several doctors to see, but most every time that she has an appointment it means that there is more homework to do or more decisions to make or more patience that is needed on our end to get to the end result. I had a lady e-mail me back several months ago as she had ran across my blog and was pregnant a second time after a miscarriage with her first child. She was now being told that her baby possibly had Antley-Bixler syndrome and therefore wanted some information as there is not much out there about it. Therefore, I try to write about the care and try to give helpful informative information to parents out there who may run into the same type of issue or who are trying to figure out how their lives will soon change forever. Not every blog that I write will be for everyone but hope that each blog that I write helps one person at least that reads it or offers insight to at least one person. It is easier just to go through my list in no particular order so that I don't leave any doctors out so lets get started :)
Darein sees a pediatric endocrinologist from Columbia. She sees him about every 4 - 6 months depending on the issues that we may or may not be having. He does what is called an outpatient clinic which is where he travels here to Springfield to see his patients once or twice a month. We see him in Springfield at one of the local clinics and he has staff there that you call to set up or change appointments with. Because he is located in Columbia, if you have any questions in between appointments you call his staff in Columbia for them to help you with any concerns or to get a message to him. He also is one of the kind physicians that gives you his email address so that you can forward articles that you have read to him for review or you can simply ask questions or voice concerns. He answers his email very promptly and also will call and speak with you directly if need be. There are no pediatric endocrinologists here in Springfield and that is why we had to get a physician from Columbia. He sees Darein for her Congenital Virilizing Adrenal Hyperplasia and monitors her medications for this as well as checks her bone age to make sure that she is growing appropriately plus it helps to determine if we are giving her the right dosage of medicine. He also draws labs fairly regularly which also helps to determine her dosage of medicine as well as any other issues. For example, Darein has been Vitamin D deficient for about a year to a year and a half and he monitors that and then prescribes Vitamin D as appropriate. He watches all of her hormone levels so that we know if anything isn't quite right. He is our physician that usually orders all the labs that we have to go to the pediatric outpatient unit for at the hospital as Darein has had so many labs drawn now that she is starting to form scar tissue which makes it hard for them to get any blood from her. These visits are usually very short unless we have an issue that we are dealing with and the visits don't take more than about 10 - 15 minutes and then if lab is ordered we head to the hospital for the appropriate testing. We will be seeing him later this month for our first visit in Springfield via Telecommunication. This is kind of a neat concept where you go to the clinic, he is in Columbia and you communicate in the patient room via a television. He doesn't need to do many physical exams other than on occasion so as busy as he is, this is a nice alternative that we will be checking out.
Darein also sees a gastrointestinal (GI) doctor from Kansas City. He also does an outpatient clinic here in Springfield, the same as her doctor from Columbia. We have only met him once. Darein was having some issues with her stomach and so we seeked him out. He is very good based on a first impression and I need to schedule another appointment with him. Unfortunately, we have had more pressing issues and her stomach issues have resolved for the most part at this time so we have placed this physician on the back burner for the time being. Darein also has gastroesophageal reflux disease and I want this doctor to monitor that medication and that disease process so I will need to set up another visit for him. Sometimes, with so many physicians we have to move them in and out as far as who is a priority and who we can afford to take a break from once in awhile. Darein has kidney issues and that was part of the stomach issues we found out later and so we have to resolve that issue to some extent before picking back up with the GI physician. Darein just takes Prilosec over the counter for her acid reflux disease right now and as long as that is managed then we feel that this is an appointment that can wait.
Darein also had a GI doctor from Columbia that she used to see. He was very good but was retired and saw her as a favor to one of Darein's other doctors at the time. At the time that she saw him she had cyclic vomiting syndrome which is also called abdominal migraines. She would have to be hospitalized and given IV fluids for a couple of days to get rid of it and he helped us through that tremendously. She has since outgrown that as of now and is doing better and therefore we decided since he had come out of retirement to see her and the issue had resolved that we would find another GI doctor to manage her gastroesophageal reflux disease which is when we switched to the GI doctor in Kansas City.
Darein sees a kidney doctor or urologist here in Springfield. Her pediatrician referred her to this physician for her left kidney reflux. However, this doctor does not perform surgeries and therefore placed her on a kidney medication and referred her to a physician in Kansas City that she sees more regularly for her kidney issues and who can do surgery if necessary. However, it is nice to have a kidney doctor here in town if there are any issues that need addressed. For instance, if Darein gets a kidney infection then she can be tested there and that doctor can monitor how many she is having so that she can report to the Kansas City physician or if tests need to be ordered then we can have them done locally and then her physician here can read it and visit with the doctor from Kansas City about the next step. We don't have a time frame on how often we see this doctor, just as needed.
As I said above, she also sees a kidney surgeon or urology surgeon in Kansas City. She does go there for her visits though I think that he does have an outlying clinic here in Springfield. Darein has only saw him once though and we are struggling with the care that we are supposed to be working on and therefore will probably have to see him again in Kansas City for awhile. We are supposed to be giving Darein Benefiber every day in her food and Miralax every day in a drink. Me, Shane and Darein all struggle with remembering to make this a daily habit. We fix dinner, fix her plate and then 9 times out of 10 forget to add the Benefiber. We have been working harder at making this work and Darein has not had any kidney or stomach issues in quite some time. I will be calling in the next few months to see about getting another xray and then setting up another appointment with the surgeon. Darein has a spastic bladder that is actually causing her issues. We have to get that under control by trying the Benefiber and Miralax before deciding what if any surgery is needed. They also have to monitor her kidney reflux with a cystogram which is very painful and traumatic for Darein. It makes it very hard to schedule these tests which I think are supposed to be once a year. She just saw this doctor about 8 or 9 months ago and I think he wanted to see her once every 3 - 4 months so we will work on setting this appointment up as it is very important. Just hard when she is doing good to think about putting her through the trauma and work involved in caring for this issue so we tend to take breaks on appointments like this as well, especially if she has had a lot of other stuff going on.
Darein started seeing an orthopedic doctor this year here in Springfield as she was diagnosed with scoliosis. These appointments are painless and she goes in and has an xray and then the doctor looks at them and if she stood up straight and tall and everything looks good then he sees her back in 6 months. If she doesn't stand up straight and tall and her curvature looks bad then he sees her back in about 3 months with another xray to compare it with the previous xray. She is doing well and mostly just has bad posture but if we get a good review next month then she will only have to see him once a year I think for monitoring.
Darein sees a plastic surgeon in St. Louis. We actually have to travel there and these appointments usually take about 3 - 4 hours depending on how many doctors we have to see from the team. When we go here there is a team of doctors that Darein sees from a psychologist, orthodontist, dentist, ear nose & throat doctor and the plastic surgeon. Darein is going to have her jaw reset as well as a rhinoplasty where they will take part of her rib bone and place it in her nose for the bridge of her nose. There is no one here in Springfield who can do this surgery which is why we must travel so far besides the fact that he is the best in the State of Missouri. They see her once every two years to make sure that she is adjusting well, talk about any concerns with breathing, eating, etc. They give us advice on things to work on, what the next stage is and what we need to do prior to getting to that stage. We just saw him at the end of last year and he confirmed that we are ready to start surgery if we wish to have it done. There was much debate in our household as to whether this was something that really and truly needed to be done and we had to weigh the pros and cons for quite some time but I am happy to say that we have decided to proceed. This is a huge step for us and we are all extremely nervous as this is a huge surgery, very dangerous and very life changing for us as well as Darein. We have talked about it since her birth but for it to be time for it to be here is quite overwhelming and there are lots of emotions involved in this. We will start braces in the next month or so and she has to have them on for about 18 months. We have to contact the plastic surgery office about 9 months prior to her being ready for surgery so they can start processing the paperwork to file with insurance and insurance companies fight extremely hard about paying for this. It is an extremely expensive surgery and not one that insurance companies take lightly. Once the insurance is hopefully approved then we proceed with the jaw surgery. Once that is healed to some extent then the nose surgery will be performed and her braces will come off approximately 6 months after the surgery.
We have chosen our orthodontist as I mentioned in my last post and therefore he is in Springfield and we will work closely with him. Darein will see him every two weeks for the first 3 visits and then once a month for about 18 months I am assuming.
Darein did see a pain doctor in Kansas City when she was diagnosed with chronic regional pain syndrome a couple of years ago. Since that time, her pain has resolved for the most part and that doctor has left the clinic. If we have any flare ups that I cannot get under control with physical therapy then we would have to contact that office again and find out who the doctor is that replaced the previous pain doctor and go from there. They do not come here to Springfield and with Kansas City having a children's hospital it is a place that we feel comfortable with those physicians.
Darein also sees a neurologist in Columbia though she does not see him on a regular basis. Columbia is out of network with out insurance company and so we have just a couple of doctors that we see from there that we are willing to keep despite the fact that they are out of network. The neurologist is one of them at this time. He is very good and mostly Darein just gets referred to him when she is having an issue or an opinion is needed in that area. We could see him once a year if we really wanted to keep him as her neurologist where we could get an appointment quickly and easily. However, at this time we don't feel that is necessary as she hasn't had to see him very many times over the course of the 15 years that Darein has been with us.
Darein obviously also has a pediatrician here in Springfield though she doesn't see her much. She will see her for some minor things but we mostly use the expertise of her endocrinologist to guide us as far as her care simply because we started with his predecessor when Darein was born and he has known Darein longer than any of her other physicians. Her pediatrician is wonderful though and has no problems asking us who she needs to call or our opinions about issues as she knows that we have been caring for Darein since day 1 and there is much about this disease that she doesn't know. I appreciate someone who is willing to put their pride aside for the greater good of the patient. Any one that does that ranks very high in my book :)
Obviously, Darein also sees a dentist once every 6 months and we have one that we like are happy with. His appointments are typical dental appointments and he leaves any of the complicated stuff to the experts in their field.
Darein also sees an ENT doctor here in Springfield. We like him very much as we met him when he worked in Columbia and was very happy when he moved here to Springfield and opened a practice. He has known Darein for quite some time and sees her for her conductive hearing loss that she wears hearing aids for. He is the only ENT doctor here in Springfield who performs cochlear implants. He has replaced the malleus bone in Darein's left ear and put many tubes in both of her ears over the years. He feels that her cochlear is not formed correctly but states that he cannot fix it at this time since it is congenital (at time of birth). He says that it is much more dangerous and the risks are too high to try to fix it at this age. He is working on inventing new technology that will help her one day in the future. He has decided as of a couple of years ago that he can no longer do anything for her at this time and therefore feels that he does not need to see her unless we have any problems. Therefore, he has gone on the back burner and we just call him if she is having any issues with ear infections or earaches and will plan on contacting him once she is 18 for another consultation to see where we are at and what the plan is at that stage. In the meantime, she continues to see audiology once a year to have her hearing checked, molds checked and if needed ordered and then new hearing aids every 4 - 5 years or so.
Last but certainly not least, Darein did have a geneticist who saw her from birth at Columbia. He finally was able to diagnose her when she was 10 years old with Antley-Bixler syndrome, wrote an article about her in the Medical Journal of Genetics and has moved on to Virginia and now is currently back in the area in St. Louis. Darein does not need to follow a geneticist any longer as there is nothing more for them to do. However, we do keep in contact with this physician as he has been a lifeline when we didn't know a diagnosis or what to expect in the future. There are still many unanswered questions and we have come to terms with the fact that they will most likely never be answered as Darein is an individual and therefore she will develop as only she can and there is no comparison.
I don't know how long my list of doctors is for Darein but I have gone through all of them above. As you might have noticed in the writing above, there are several physicians in which we sometimes have to put on a back burner or care that we have to take a break from. I think that this is a necessary part of continuing to try to live a "normal" life. You can't always deal with all the issues all the time and keep your sanity. A break here and there doesn't hurt anything as long as you are aware of it and make sure to pick up where you left off in a reasonable amount of time. Sometimes, you just have to step back, prioritize what has to be taken care of and live your life with the remaining amount of time until things calm down on one end and then you can pick something else back up. I think that this is healthy and much needed in order to gain perspective. I know this post is extremely long and so hope you will forgive me for that but I also hope that you really enjoy it and have a better understanding of the preciousness of human life and setting priorities whether you have a special needs child or not.