One of my favorite songs from Dear Evan Hansen is, Does Anybody Have a Map? It’s a song I often sing when I’m frustrated going through this journey. The line that often repeats in my head is, “does anybody have a map, anybody maybe happen to know how the hell to do this?”
I go to one doctor and they say take this med, do this physical therapy, take this vitamin or try this injection. I’ve recently scaled back the amount of doctors I have been seeing. I was starting to feel that going to the doctor was a full time job. I was thinking I’m seeing more doctors than I am showing houses.
Genetics Appointment
Today I had a follow-up with my genetics doctor to go over the results of my testing. This test also confirmed that I don’t have any genetically related form of EDS. The test did not show the recessive osteogenesis imperfecta like my rheumatologist found. She said their test wasn’t looking for that. What it did find is that I have a form of Muscular Dystrophy. She mentioned that there are four possible forms. After reviewing the symptoms of each, we agreed it is likely Bethlem Myopathy.
Bethlem Myopathy
These are the genes that build up collogen and muscle tissue. This explains the connection to the hEDS. Some of the symptoms include, slow progressive weakness of the hips, thighs, shoulders and trunk. All of my strength tests keep coming back strong, but the muscles are all tightening up causing more weakness in the ligaments and tendons. She explained how at this point in my life (50), that I will start to experience weakness in my toes, feet and fingers. I will start to find it difficult to write and type. For the past month or so, I have been having continued pain in my hands and fingers. For years, my hands tire after writing for a long period of time. I have chronic pain in my left foot that my podiatrist really cant explain. No fractures or pinched nerves. The genetics doctor said that I am likely getting to the point where I will need a walking aid.
Is there a cure? No. Just like my hEDS, it is regular maintenance, PT, bracing and walking aids like a cane. I return to PT next week and hope to gain the support I need without an increase in pain like earlier this year.
Genetics and Medications
As part of the genetic testing, I opted to also see how my genetics process medications. I never considered this as something that happens. Sure, we metabolize differently but I hadn’t thought about medications. I received a list of medications and specialties. It was then broken down into standard precautions, informative, and actionable. The areas covered included cardiology, oncology, anesthesia, gastro, gyno, infectious disease, pain management and more. This was quite informative for pain management. Of the 15 medications that were tested, 12 of them fall under actionable for me. I now have to notify my doctors of the full list so that they understand there will be extra measures to consider when prescribing and that it likely wont work for me. This explains why all the pain meds I have been trying this year, have not been working for me.
Pain Management
This afternoon I met with a new pain management doctor. My rheumatologist assured me that this doctor would focus on all my pain, not just one area. A friend of mine uses the same doctor and speaks highly of him. I have tried to stop going into doctor appointments with high hopes, it was hard to put that aside today. Was I finally going to meet a pain management doctor that looks at me as a whole? Was I going to find one that understands hEDS and my new finding today?
Yes, I DID! He fully understood how hEDS can affect me and for the first time, a doctor assured me that I will live a good, long, life. That’s good, that was my plan. After reviewing my previous MRI’s the first thing he said was, the problem with these is that you were laying down when the study was done. While it shows two bulging disks, we can’t tell if there’s a pinched nerve or other complication.
What’s Next?
The pain management doctor is putting me on 300mg of Gabapentin. This should help with the overall nerve pain. I mentioned that I was put on this earlier this year with terrible side affects. He was only able to fine a script from 5 years ago. He said that when a doctor prescribes this for a patient, it must be registered with the state. Guess I have to search through my pharmacy app to see if it was prescribed back in June.
He also plans to do an epidural in my back. He explained that this will calm all of the nerves running up and down my back and should help with my back, hip and foot pain. Now we wait for insurance approval.
The genetics doctor is going to find a geneticists for me to meet with to dig deeper into my testing. She also suggested neurology, I currently have an appointment scheduled for March.
I am hopeful that my map is starting to have direction and not have many more detours.
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