Notes from a Rare Disease Mom

In 2017, my husband Tyson and I had returned from our long hospital stay with a rare disease diagnosis for our daughter.   The only treatment they had was a mixture of vitamins and enzymes to boost energy.   I felt totally deflated.   How could vitamins possibly do much of anything to prolong her life or promote her health?   I didn’t take them myself because I took a health class in college that taught us that most people didn’t need them and just peed them right out.   However, to our surprise, within a week of returning home, Thea was WALKING for the first time.   Suddenly, our physical therapist was working on getting her to walk longer distances instead of trying to get her to walk at all.   We were thrilled.   Could the vitamins really be doing this?  How else could we explain such a jump in progress?  To top it off, Sammy, the one other child we knew with Tango2 disease, had the same success with the cocktail so we began to hope.    Now that Thea was stronger and w

After eleven long days at Rady’s Children’s Hospital, my husband, my daughter, and I slowly returned back to our normal lives.  We didn’t have any explanation yet for our visit and what had happened at the hospital.  My daughter had laid in her hospital bed, non-responsive for days.  Her heart rate was incredibly high and the doctors used words like cardio myopathy and high CK levels .  The doctors warned us that she might never fully recover but slowly, she came back to us.  We didn’t really know what to tell our friends and family other than that the doctors suspected mitochondria disease.  We had never heard of it.  Thea in the hospital. Finally, a month later, we sat in the neurologist’s office and he told us that the genetic testing results that had been done in the hospital had come in and they had found something that explained all of the strange symptoms we have been seeing for over a year.   It was called Tango2 Disease and he showed us the one medical p