Last week my family had their semi-annual Myotonic Dystrophy (DM) appointment. We value these appointments and plan them as an all-day event. We have been told that our attendance at these appointments not only helps us but that these appointments are a way that we can help train future doctors since residents will very often participate and/or observe at these appointments. Since we have so many people to be seen the appointments usually start at 8 a.m. This means that not only do I have to pick them all up, I have to call ahead and make sure that they have taken their stimulants and that they are up and dressed. Sometimes I can get their caregiver to show up at 6 a.m. to help with the waking and dressing process so that I have time to get myself ready and out the door.

The clinic puts us all in the same room and multiple doctors come in and see us, one at a time. This time we saw the pulmonologist, neurologist, physical therapist, occupational therapist, and speech therapist. A genetics counselor and a social worker are also on the docket if we feel a need to see them.

My DM family has few filters. As a reminder, these missing filters involve non-stop talking about topics not related to the purpose of the visit. They are telling jokes back and forth and also interrupting the doctor while she is working on one specific individual.

For instance, Kent tells Michael to sing for the doctor and tells Michael to sing Sixteen Tons. Dr. Gibson, the neurologist is so cute. She stops what she is doing to wait for Michael to sing. Kent wants Michael to show the doctor that even though he isn’t understood when he is talking, when he sings he is understood. Michael doesn’t want to sing Sixteen Tons so Dr. Gibson patiently waits while Michael decides what to sing. Finally Michael starts to sing The House of the Rising Sun, but he needs a pitch, which Kent gives him. Michael starts to sing and halfway through the song he decides that the pitch is too low for the song. He doesn’t change the pitch mid-song but he has to start the song all over at the beginning. The doctor patiently encourages Michael. Michael has a beautiful voice and the doctor really praises him when he is done. Then Kent and Michael start singing a duet of “They Call the Wind Mariah.” Chad then joins in making it a trio. My family seems to forget that they are there to have the doctor evaluate them and thinks that they are there to entertain the doctor.

Another example of their lack of filters is while the doctor is working with Kent going over list of medication, Chad throws out “He takes Viagra”. Andrea quips back “I don’t want to know about that.” Then Chad says “Do you know why grandpa needs Viagra? So he doesn’t roll out of bed.” Andrea busts up laughing. While these antics are going on in the background, the doctor is working hard to stay focused on Kent.

These highly specialized doctors who work with so many muscular dystrophies seem to be aware of the fact that they aren’t just observing a disease but that they are working with a real human being with real life impacts from their disease. The doctors are very responsive to my family and sometimes even join in the latest distraction. Inside I am chuckling but it is also my job to make sure that the real life issues of their disease are discussed. I have brought notes with me to make sure that important details aren’t forgotten. We can all relate with visiting a doctor and realizing after the appointment that we forgot something that we wanted to ask. With the impaired executive function of the DM individual the important details will usually be forgotten. I need to be there to make sure that the important details are addressed.

The pulmonologist is pleased to see how well Kent has recovered from his previous bronchoscopy. She says that Kent’s ICU visit after the procedure a month ago isn’t unheard of but is actually a risk of the procedure. She isn’t alarmed that he got sepsis, even though it doesn’t happen most of the time, it does occasionally happen. When she was down in Kent’s lungs for the bronchoscopy getting a sample, she likely stirred up whatever bacteria was sitting at the bottom of his lungs and spread the bacteria throughout his body causing a dangerous reaction that escalated later that day into sepsis.

We need documentation for Andrea in order to get her the services that she needs. I tell Dr. Gibson of my communication with Andrea’s attorney Andrew Reichardt. I have messaged Andrew: I am attaching multiple slides from DM workshops with pertinent information about Andrea and her Rare Disease. These slides list many of the ways that Myotonic Dystrophy (DM) affects the individual with this disease. Andrew replies with the fact that Social Security doesn’t care about symptoms of the disease. They won’t use that information as a way of understanding how the disease affects the applicant. The information of the effects of the disease have to be put in the chart of the patient. I tell Dr. Gibson this and I share with her the list of issues that affect Andrea.

Myotonic Dystrophy is a multi-systemic muscular dystrophy affecting more systems in the body than any other disease. Andrea suffers with all of the symptoms, weak hands, cataracts, GI issues, fatigue, inability to plan and carry through, avoidant behavior, apathy, anxiety/depression, hypersomnolence, lack of self-awareness, decreased social interaction, rigidity, impulsivity, heart effects, requires external stimuli for behavior, etc., etc. Dr. Gibson says that this information is basically in Andrea’s chart but not expressed specifically this way. She willingly takes my notes and types all of the above symptoms into Andrea’s personal chart. She agrees that DM effects Andrea in the way that I have written and is happy to document it with these words. We hope that this will help Andrea with her application for Social Security benefits and for disability benefits from Marriott, Andrea’s employer.

We get a lot accomplished at this appointment and it is worth the time and effort that it takes to be seen by the MDA clinic doctors.

Michael and Chad won’t leave their dog Pepsi home because they hate for him to be lonely. He is a service animal so Pepsi is allowed in most settings. He is a miniature schnauzer weighing under 10 lbs. and brown with tones of silver. It turns out that Pepsi is the highlight for all of the doctors.  After the first doctor visits my family and Pepsi, she must have told the next doctor because when the next doctor comes in the first thing that they do is talk to Pepsi. “Hi Pepsi, you are so cute.” Each of the 5 doctor visits start out this way. It appears that the doctor that has just been with my family updates the next doctor before they come in. It’s fun that Pepsi is part of the updates happening in the backroom.

After a 5 hour doctor visit we leave, everyone is starving and exhausted. Kent and I treat our family to a relaxing lunch at Zupa’s. After lunch I drop everyone off at their respective homes and Kent and I go home to recuperate from a long profitable day.