When Hattie was first diagnosed with Dup15q Syndrome in December of 2014, we were given Dr. Thibert’s information as an expert we might want to visit. At that time, she was in speech therapy, occupational therapy, physical therapy, music therapy, therapeutic riding and she didn’t have seizures. We made the choice not to visit at that time. It was such a long trek and we didn’t really understand what he could do for us that we weren’t already doing. Flash forward 3 1/2 years, add uncontrollable seizures and exhausted resources. We decided it was time for a visit. Our appointment with Dr. Thibert was on April 27th, 2018. I really didn’t know what to expect but went in with an open mind. What we left with was a solid plan going forward and optimism we haven’t felt in some time. Dr. Thibert and Heidi both spent as much time with us as we needed, answering all of our questions and asking some of their own. They created a care plan to attack her seizures and address some of the problems we didn’t even know she had until that meeting. We began implementing the new suggestions right away once we returned home. It was such a positive experience, I highly recommend having at least one visit with him if possible.
Having access to a Dup15q Clinic has been an invaluable resource for our family. Knowing more about your child's condition than the doctor(s) you are seeing is an added stress to the family. On the contrary, there is such peace in knowing the doctors and other professionals you are seeing really know your child and are just a phone call away. Having that relationship with healthcare professionals is unfortunately a rarity these days. The Dup15q clinic has been a lifeline in our darkest days. We consider ourselves so blessed to have access to this kind of care for our son.
My son was diagnosed with Angelman syndrome the month prior to the appointment so we had a lot of questions. We felt like they truly cared about our son and the other patients. Great experience!
This clinic is a blessing for my adult child. Now we have somebody who really understands our needs.
I felt everyone understood my concerns and helped me with all my questions. It was a very productive trip and worth the long drive!
It was refreshing to talk to professionals who understood this syndrome. They were compassionate and informative.
When our son Mason was first diagnosed with Angelman Syndrome, one of the most disheartening aspects of the diagnosis was that none of his doctors were familiar with it. As we started to speak with other Angelman families, one trend that kept popping up was that they all went to the Boston Angelman clinic. We live in New York and at the time Boston was the closest clinic. It seemed kind of crazy to drive three hours just to go to see a doctor, but we figured we’d give it a try. At that first visit we were blown away by the knowledge and empathy of the clinic team, and couldn’t believe the sheer amount of time they spent with us as we left with a wealth of notes and a prioritized list of what we should focus on. It was the first time in our Angelman journey that we left a medical appointment feeling empowered and productive.
In the years and visits since, the care Mason’s received at the clinic have been life changing. At our clinic visits we’ve been able to get his GI issues under control, moved him on to the LGIT diet which have kept his seizures at bay and helped him move from the second percentile in weight to the fiftieth, received evaluations that opened the door to additional therapy sessions and have entered Mason into a clinical trial. Knowing that Mason is being regularly seen by some of the foremost experts in Angelman Syndrome gives me enormous confidence as a parent, as I know he is getting the best medical care possible and will quickly benefit from all the latest Angelman Syndrome research and treatments.
The neurologist who first diagnosed our daughter's Angelman Syndrome was visibly relieved when we told him we found a clinic dedicated to this rare neuro-genetic condition. He had never met an Angelman case before. As a parent receiving this diagnosis, I can't explain how reassuring it was to know there was a group of specialists who not only had seen other children with my daughter's condition, but had dedicated a significant amount of study to it. Since the first days after we learned about Angelman Syndrome, we have communicated regularly with many of the members of the Vanderbilt University Medical Center's clinic team. Without Dr. Duis and Dr. Carson's and their team's support, we would not have been prepared for our first seizures, our therapy schedule, and our at home care for our precious little girl. We cannot thank the clinicians and ASF enough for providing us with a peace of mind. AS is hard but with a team like this behind us, we are able to boldly face the future, knowing that we are not alone.
When you are handed a rare diagnosis for your child it can be very isolating. Most local doctors don't know much about the uniqueness of Dup15q Syndrome. Our 15q Clinic visits not only provided us with information we could not get elsewhere, we left with trust in the knowledge of the clinicians. We continue to visit yearly and follow their guidance of medical care for our child.