Well, as I launch my blog today, I know that there is a great deal of background that may be needed for those who don't know our family very well, and I will get to that soon. For today, I'm going to jump right in to our journey and tell you all about the wonderful experience we had with A's new motility specialist. (In the interest of privacy for our daughters, I will only refer to them by their first initial.) A, our middle daughter and currently 5 years old, was referred to this specialist because she has had chronic, severe constipation since she was an infant. She has seen a total of 3 GIs over the years, and is currently maxed out on the dosages of her 4 constipation medications, yet still deals with constipation. Her current GI has recommended that our next steps would either be to see a motility specialist for motility testing or to consider the MACE procedure.
So August 22nd, we went to the local children's hospital with A to meet "Dr. F", who is fairly new to the area. Previously, Chicago did not have a motility specialist and our oldest daughter, E, who is currently 8 years old, had to travel to Milwaukee in February 2016 for the same type of specialist and testing. So we were thrilled when our GI and urologist told us there was a new doctor here in Chicago. Luckily, our urologist is with the same children's hospital, made the referral, and got us an appointment in only 2 months (he is booking out appointments several months ahead typically). Great news, except E also had an appointment that same day at exactly the same time to have her G tube button changed out at our other favorite hospital across town. Neither appointment could be rescheduled without waiting 3-4 more months. So my husband took the day off from work and brought E to her G tube appointment. These complications in our schedule often arise, and I'm thankful that my husband is able to help like this occasionally. I'm also happy to report that E was amazingly brave with the G tube change... no tears and 3 more months to go before the next change! So back at the motility appointment with A, we met with Dr. F for about an hour in total. He took his time getting all the history and background, read through all the referral notes and medical records, and asked lots of questions. Dr. F was kind, compassionate, very knowledgeable, and had a wonderful bedside manner. He has experience with children on the autism spectrum and was understanding of the limitations we face daily. He assured me he wouldn't suggest anything that would not be practical for us and our daughter (i.e. no daily enemas! LOL!). When we got to the part of her medical history where I mentioned that I have Ehlers-Danlos Syndrome (EDS), that her doctors suspect that she may have it as well, and that we are on a 2-year waitlist to see the geneticist that specializes in EDS, he surprised me with the most wonderful news! He knows and works with this very same geneticist, and together they have treated many patients with EDS! I know the average person won't quite understand how amazing this actually is, but to put it in perspective, most doctors have not even heard of EDS. Yet this geneticist specializes in EDS, is a world-wide expert in this field, and was heading the committee that just published the new EDS diagnostic criteria and several research articles! So this was like hitting the jackpot for our family and an answer to my daily prayers! After Dr. F finished taking all the history, completing the physical examination, and determining her Beighton score for hypermobility, he was in agreement that further GI motility testing is needed, and that she should definitely see the geneticist sooner than later. Her Beighton Score was a 7 out of 9, which is a positive indicator for joint hypermobility, and one of the diagnostic criteria for Ehlers-Danlos Syndrome. So Dr. F wrote a personal referral note to the EDS geneticist and sent it while we were still at our appointment. He said that the two doctors will often do each other favors when referring patients to one another, and that it will hopefully get her an appointment sooner. Fingers crossed, as we have been on the waitlist since March of 2016! In the meantime, Dr. F ordered three motility tests for A: 1. SITZ marker study, while on medications 2. Water soluble contrast enema to assess colonic caliber 3. Anorectal manometry He will likely consider future colonic manometry testing, pending the results of the first three tests. Overall, we were very pleased with the outcome of the appointment and have hope again that we are on the right path to finding answers and a treatment plan. Stay tuned for updates on the testing! Thanks for reading and have a great day!
Valerie
8/27/2017 07:25:40 am
Love it! You are an amazing mom with the amazing and brave little girls. I can't wait to find out more about EDS and all the ways it can affect someone, both medically and in their daily lives.
Rebekah
8/27/2017 08:23:10 am
Thank you Valerie! I appreciate your support!
Julie
9/7/2017 11:46:44 pm
Wow, what great news all around!!
Heather B
9/8/2017 02:39:33 pm
You know I know and appreciate your story and this wonderful news, but reading it here again literally brings tears of hope to my eyes. You guys deserve every chance at help, health and happiness. Love to you always! Comments are closed.
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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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