Happy New Year! I hope you all had a wonderful holiday season! I've been behind in posting updates for the entire month of December. Some of the updates were pretty upsetting and left me wanting to process all the information a little more before writing about it. Then throw Christmas preparations into the mix, and well, I'm sure you understand! So since the last blog post, a lot has happened. So I think I'll write a little update on each of my daughters and what has transpired this month. Our 8-year-old daughter, E, had a few important appointments this month. On December 1st, she had her repeat urodynamics testing (CMG bladder tests) to see if the tethered spinal cord release surgery in April has improved her bladder function. That test is always a difficult one for E, and she has to be sedated during it. Her follow-up appointment with the urologist was December 19th, and he went over the results with us. The good news is that it did show that her bladder was calmer and not as spastic as in the past. However, the bad news is that we have not seen these improvements make a difference in her day-to-day life. Her symptoms and incontinence remain unchanged overall. The urologist also reported that her pelvic floor dysfunction was still present on the test and that biofeedback therapy would be recommended again. He's hoping that the issue is due to pelvic floor muscle weakness and not something that is neurological in nature. If so, then biofeedback would have positive results for her. All we can do is try the biofeedback again and see if it helps. I was able to have him write the script so that we can do the therapy at our current physical therapy clinic, instead of going to the urologist office once per week for this like we did a couple years ago. Not only is the biofeedback not covered by insurance when done at the doctor's office, it is also a 45-minute drive each way. With our current schedule of 14 therapies per week, I don't know how to fit in a trip like that right now. Plus, biofeedback is covered by insurance when done through the physical therapist. Let's hope this actually works to improve her symptoms because it's literally our last hope for a positive change. Additionally, the urologist is sending the urodyanamics results to our neurosurgeon in Rhode Island for her review and to discuss with us at the 1-year post surgery phone consultation. It's possible E's nerve damage caused by the tethered spinal cord is permanent and that she may never have full bladder control. The neurosurgeon did advise us of this possibility last December, but we were of course hoping for the best. Needless to say, we are pretty concerned that the damage may be permanent. On a separate topic, E saw the allergist on December 11th and we discussed her exercise intolerance, autonomic dysfunction diagnosis (click here for previous post) and her symptoms when exercising. The allergist felt that it was likely exercise induced asthma and prescribed an albuterol inhaler to be used 15-minutes prior to strenuous activity or as needed, and to also continue the P.E. restrictions at school per the neurologist. As for A, our 5-year-old daughter, she started pelvic floor biofeedback therapy with her physical therapist to address her pelvic floor dysfunction which is contributing to her chronic constipation and urinary issues. (This is the same biofeedback therapy that her older sister needs to begin, as mentioned above.) Attempting this type of therapy with a 5-year old is a challenging feat, but she's doing well so far. Only time will tell if it helps improve her symptoms. For now, she goes once per week. We also attended two IEP meetings to discuss A's re-evaluation and new goals for the coming year at school. Overall it went well, but we had to make some big decisions as a team about how we would accommodate A's doctor-ordered daily nap. In the end, we agreed to shorten her school day by picking her up at 1:45 pm each day. This will allow her to maximize her time in school, attend lunch, recess, and most of her specials classes, like P.E., art and music, but still have time to come home for a 1-hour nap before we'd have to head back to school to pick up her sister and head to therapies. This new schedule will start next week when she returns from winter break. Another bid update was that I received a call mid-December from the geneticist to discuss the results of the genetic testing that A did in October. This long-awaited call happened 5 minutes before leaving the house to pick up the girls from school, caught me off guard, and left me little time to discuss very much with the doctor. Unfortunately, the whole exome sequencing, which is the most comprehensive genetic test offered currently, showed no abnormalities. While this initially sounds like positive news, it actually means that we have no answers at the end of 2-year wait to see this geneticist and after 8 weeks of waiting for test results. The geneticist said that it did not rule out or confirm the Ehlers-Danlos Diagnosis, but that Ehlers-Danlos was probably part of the overall picture. He said someday the medical field may discover a new syndrome that A would be diagnosed with, but for now, she remains undiagnosed and a true zebra. This was probably some of the most upsetting news we received because so many of her specialists have been waiting just as long as we have for a diagnosis or an answer of some sort so they could guide their treatment better. Yet, we are back to were we started and will just have to continue to manage the symptoms of her chronic illnesses and conditions. Finally, our 4-year-old, C, had a couple appointments this month too. We recently had to search for a new pediatrician, since our former doctor left the practice we had been at before we moved to our current home (about 40 minutes away). We were disappointed but didn't want to continue making that drive if our doctor was no longer there. So with the help of a good friend, we found a local pediatrician that was willing to start seeing our three daughters and help us manage their complicated medical care. The pediatrician wanted us to set up 3 separate appointments to review each daughter's medical history, records, and get caught up to speed. So C had her appointment on December 12th and A had hers on December 20th. E's is coming up this week. The good news is that I was very pleased with how our appointments went and know that this pediatrician is the right fit for our family. She was very caring, supportive, empathetic, and had a few new recommendations for us to try or new specialists to refer us to. I was so very relieved by this! Additionally, C had her swallow study test at the hospital on December 13th. This was to investigate why she has been coughing after drinking fluids for the past few years, and it's the second time she's had this test. The speech therapist that performed the test did share with us that C has mild vallecular residue when swallowing consecutive sips of liquid. C required a cue from the speech therapist to swallow a second time to clear the liquid completely from this space. The theory is that the liquid pools, as seen in the image below, and if too much pools up and drips down her throat, it triggers her to cough. So this information is being shared with her new speech therapist that will start working with C in January, and we will see what can be done to improve this swallowing condition. One final update, is that we got a call from Make-A-Wish Foundation, and we did not get the news we were hoping for. It seems there was a mix-up with the application and only one of our girls' applications were reviewed and not all three like their doctor had submitted. This was disappointing news as we were hoping for a bit of sunshine (literally and figuratively)!
So while our year did not end on the most positive note, we pledge to keep moving forward! That's why I like the quote above so much. "What feels like the end is often the beginning." As always, thanks for reading! This was a long update, and I appreciate you sticking it out to the end. Feel free to comment below or contact me here. Wishing you all a healthy and happy new year! |
AuthorHi, I'm Rebekah! I'm a wife, architect, teacher and mother to 3 amazing daughters! Thanks for stopping by my blog, RAISING ZEBRAS! Archives
February 2018
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