Today is my 52nd birthday. I cannot believe I am saying that. When I reflect back on the 1.5 years prior to diagnosis, they seem like a dark and depressing time. A major clinic in the area had rejected me as a patient. I could not find a doctor who would take things to the next step other than saying I don’t know what is wrong. Every test I had was coming up negative. I was desperate. Despite the reassurances that if I lost weight I would feel better, I KNEW something was wrong. My mental health was not in a good place. I did not want to be here anymore.
So how did I dig out? Most importantly, I found a therapist that specializes in chronic health conditions. She helped me work through my tangled web of emotions. Then I cold called a university hospital in the area and asked for genetics. The counselor I was transferred to could not help me but she knew someone who could. She emailed this person out of the goodness of her own heart. Her contact, Dr Lisa Schimmenti, took me on as her patient. She looked me in the eyes in that first appointment and said, “I don’t know what is going on. Something is wrong. I am going to work until we figure this out together.”
It took four years of negative tests before whole genome sequencing testing was finally approved. I had begun to give up hope again. I remember crying on the couch because I was so done with dealing with this. Then the call came. October 2020. You have Myhre Syndrome. I have WHAT????
The next week is a blur. I remember reaching out to the Myhre Syndrome Foundation as well as Dr. Lin. I remember connecting with Dr. Lin with a virtual visit in the midst of COVID. I remember talking to a few other Myhre moms and Holli but I was in total shock for months. Part of me was elated! A diagnosis!!!! I have a DIAGNOSIS!!! The other part of me was confused because there was so little info on this new diagnosis.
Why am I talking about this on my birthday? Because today I have a life full of love and laughter that I could never have imagined before. The despair and loneliness is gone because of my diagnosis. Yes. Life is uncertain. I don’t know how long I will have on this planet or how well I will be functioning. But I am HERE! I know who the adversary is and I can fight back with all my might.
This summer is all about fighting back. With Holli and Tilly the oxygen tank in tow, we plan on having a fantastic summer just enjoying being alive. We have no idea what this might look like. We will share with photos as it unfolds though! My life is so incredibly blessed right now.
But I want you to understand that I know the dark days of before diagnosis, after diagnosis, and when something goes wrong. I am working diligently on the MSF board to help alleviate some of the stress. I have formed a fantastic team of people to help me deliver on that promise. Please reach out if you need to talk. I am here. pschultz@myhresyndrome.org.