Patti Schultz, Myhre Syndrome Foundation Board Member visited MassGeneral Myhre Clinic in Boston in November, 2021, and was happy to share everything she learnt.

“One of the great things that a visit to a place like MassGeneral and the Myhre Clinic is the opportunity to take part in research. On this visit they took a skin biopsy and blood samples for future use, and there is a lot of interest and plans in place for expanding research opportunities, especially regarding adults and why we are all so different.

I knew going into my week that physical therapy, neurosurgery, rheumatology and dermatology would be the main focus of my issues. The musculoskeletal stuff causes me the most pain. Physical therapy: my joints are contracted – some severely. Neurosurgery: my spinal discs are degenerating along with more formation of bone spurs. Rheumatology: I have pain in areas that are abnormal like the tops of my feet. My muscles are hypertrophied (enlarged), they think, from fibrosis. Dermatology: My skin is thick overall, worse on the backs of my arms/legs. The stiffness seems to be deeper than skin level when they examined me. Pain control for all this is difficult and they are unsure how to intervene. Physical therapy, exercise/movement, and gentle stretching is the best they can offer me for now and we are unsure of future surgeries.

My hearing loss is severe to profound – no surprise there. However, part of my left hearing loss is conductive. This is new information. I have always been told it was all sensorineural loss (nerve damage). So, the next step will be a cochlear implant if my speech recognition starts to drop.

My lungs are small in capacity and size but working well. My chest wall is super thick. It only moves in millimeters. They are unsure how this affects my sleep or breathing at this point. I am being advised to lose weight as “obesity” can worsen this. My heart is normal in structure. No congenital defects. I have an arrhythmia which has not been seen in other Myhre’s patients yet. It is well controlled by meds. They are specifically watching the sac around my heart for stiffening as this is a major issue for us.

There was more but I am still wrapping my head around everything. GI and neuropsych were also involved in my care. I am waiting for more testing at home and results from them.

My takeaway from this journey is that it is WELL WORTH the time and energy to go to Boston to see this amazing team of doctors if you have a chance. You will learn so much about you or your child from experts who have information that not many other doctors know. It was an amazing experience that I will repeat next year for a follow up. I feel like we barely touched the surface this time of this complex syndrome.

Please know I am fighting as hard as I can to help your little ones and will continue to do so in any way I can. It is my mission in life.”

Thank you to Patti for sharing her experiences, taking part in research for the benefit of the whole community and for all you to do bring awareness to Myhre Syndrome.