Just a quick update for the family and friends that have been waiting!
Darren started his new job and seems to really be enjoying it. Knowing he will be home at a consistent time each night has just been such a weight lifted! We have had him home for two full weekends now and its just wonderful to have time to just be a family and recharge before the next week. I officially start my new job on July 18th.
The one “downside” Darren’s new job is that we have to change our health insurance. Our deductible through the previous insurance was paid, and the new deductible is quite a bit larger than we had previously, so Im trying to cram everything I can, into the next 60 days so we can take advantage of our previously paid plan. When I left Cleveland, I had several tests that I still needed to do, that I couldnt get scheduled in time there. Including a stress test for my heart, due to abnormal EKG’s and a brain MRI to rule out Chiari and follow up on some lesions that were present on CT several years ago. So, we are working to get those scheduled, as well as getting some of the screening tests done for the kids. Everyone needs to see the eye doctor as the eyes are often effected in EDS.
As many of you know, Levi has had some ongoing issues with urinary incontinence that we have had little help with getting resolved despite seeing the local urologists at Childrens Hospital. We have started seeing a new primary doctor who is more familiar with our Ehlers diagnosis and is also very motivated to help me get direction in Levi’s care. I really appreciate this doctor because he likes to try more natural and alternative cares, when appropriate, but also knows when mainstream medical intervention is needed. He had asked us to follow a strict diet and bowel protocol with Levi for one month and then to see him again to discuss if that helped his wetting, and if not, what the next step would be. The urologist in Peoria have been treating the issue like constipation for two years because Levi had one abdominal xray that showed constipation. The new doctor and I disagree that this is the issue, but wanted to try the diet and bowel protocol to at least entertain the idea before referring to another urologist. While the diet helped immensely in other areas, it had no effect on the wetting. So, the doctor is referring us to urology at Lurie’s for a second opinion. I spoke with the nurse from Lurie’s on the phone this morning and already made more progress then I have in three years with the Peoria doctors. So, Im very hopeful this will help get some long time questions answered. The incontinence is really starting to effect Levi’s self esteem and is manifesting as increased social anxiety.
There are two conditions that are common in Ehlers Danlos. Chiari Malformation of the brain and tethered spinal cord. Both of these can be serious and both require surgical intervention. There is question if Levi’s wetting, GI and sleep issues could be related to one of these. However, in order to rule those out, he would need to be sedated for an MRI of both the brain and the lumbar/sacral area. This would be several hours under sedation. So, we are trying to rule out some more common issues with urology before we jump to possibly unnecessary testing. The sleep and breathing issues have improved since his tongue tie was revised, but not completely. He still snores loudly and wakes often and is very hard to wake during certain parts of his sleep cycle. Another consideration is if he may just need his tonsils removed. We are trying a specific type of muscle therapy to change his oral posture and some homeopathy for two months and then we will again see ENT to re-evaluate. Chiari can cause apnea as well, so again, we are trying to determine what specifically we are dealing with. His tonsils dont look too bad but he has had strep three times in the last year. So tonsils alone, may not explain the apneas, but they cant easily be ruled out, either. Levi has made some huge improvements overall, in the past few months, so things may be less serious than we first thought. But we also dont want to miss any warning signs as both of these conditions are not well known and can be tricky in presentation. We are sort of at this point where we didnt foresee so much great improvement with just simple diet changes, and we are so pleased…but still observing to see if things continue to improve or if there is more to consider. We are either dealing with several simple issues or one or two really big ones. We are on the right track, but it will be a few months before we truly have any clarity.
The doctor also ordered echocardiograms for all of the kids, as mitral valve regurgitation is common in EDS. We need a baseline to screen for issues now and to compare to in the future. We will be starting physical therapy for Lukas because of his hip issues and for Emma for her frequent falls and low muscle tone. Overall, I am very pleased with the care from the new doctor. I hope once we get the baseline screening done, we can all take a deep breath and put so many questions and concerns to rest. Im hopeful with some initial direction, that I can manage a lot more at home and we can decrease the need for so many appointments and doctors.
So here is the big news. There are several types of EDS. We have been diagnosed with type 3, or hypermobility. However, we have many vascular symptoms, so we had some genetic testing done to rule out vascular EDS. This type is often deadly. When I left genetics he was uncertain if there was truly a genetic component or just some crossover symptoms. We have been waiting two months to hear. The testing came back today and we do not have vascular EDS! Whew. Big sigh of relief. So, while we still have to take precautions for bleeding, and will continue with some screening tests every few years, our risk for spontaneous artery rupture and other scary complications, is much less.
My month is getting crazy, fast, with all of these appointments, but Im very excited for direction and having a plan. The more I can do for these kiddos while they are young, the less all of this will effect them as adults.
Thank you for all of the continued prayers! We will keep everyone updated as we can.