I had a doctor’s visit scheduled for this past week at a hospital in Philadelphia called CHOP, Children’s Hospital of Philadelphia, which is kind of embarrassing. All of the paperwork for my visit included references to “the child” this and “the child” that, and I am, of course, an adult. I worried that somehow they’d missed that detail in my medical history and when I walked into the hospital they’d be horrified that I was so tall. But, I was told that this was the place to go for a possible mitochondrial disorder, so this is where I’d have to go, no matter my age.
This particular adventure started back in March, when I heard from the geneticist that I had some genetic variations that needed to be looked into, and she gave me referrals to a neuromuscular specialist (to check out a possible LMNA disorder, in the Muscular Dystrophy family), and to CHOP (for a possible Mitochondrial disorder). The appointment with the Neuromuscular specialist was easy to schedule, but the process of getting an appointment at CHOP took at least a month, because they had to collect all of my records from various doctors and hospitals to see if they really wanted to take on my case, and, of course, they needed pre-approval from my insurance. Eventually, they sent me a welcome letter telling me that I’d have two appointments on a Wednesday in July, one at nine in the morning with the lab, and one at ten thirty to see the head of the Mitochondrial medicine department. The idea of going to Philadelphia for a doctor’s appointment, a three hour trip each way, was already overwhelming, but to have to be there at nine in the morning?
Mom said we could go the day before and stay over at a hotel to make things easier, but it sounded so expensive and complicated to me (Do we bring the dogs? Would Cricket actually stay calm in the hotel room while we were at the hospital? Could Cricket survive being boarded, even with her sister for company? Would we drive or take a train?), but Mom was confident that it would all work out; and it was still only April at that point, so the specific plans could wait.
And then Mom went to the orthopedist and found out that she needed a hip replacement, immediately, and we fell into the whirlwind of pre-op testing and surgery and recovery. Even then, Mom was still convinced that she’d be well enough to make the trip to Philadelphia, so we focused on getting her well and continued to put off planning the trip.
My appointment with the neuromuscular specialist, about forty-five minutes away, came up a few weeks ago, the week after Mom’s post-surgical check up with the orthopedist (which went great!), so Mom wanted to test her strength and come with me. I drove, and held doors, and watched Mom maneuvering her cane like an oar, and Mom listened carefully to the doctor to make sure I didn’t miss anything important. The doctor was very thorough, and thoughtful, and put me through a lot of physical exercises and questions and said, eh, I don’t think you have an LMNA disorder (no muscle-wasting, no falling eyelids, and no to a lot of other things on her list), but she was optimistic about my upcoming trip to CHOP, and said she thought a Mitochondrial disorder could be a better fit for my symptoms.
I was proud of myself for managing the drive and the doctor visit, and for not being too bothered that yet another doctor and diagnosis had fallen through, but Mom was exhausted by the trip, and by the next day she’d realized, very reluctantly, that she wouldn’t be able to come with me to Philadelphia, even if we did the whole thing by train and boarded the dogs for two days. So I would be making the trip alone.
I know it shouldn’t be such a big deal for an adult to travel to another state alone, but for me it’s a lot; both because of the inevitable physical exhaustion of the trip and because of the anxiety that floods my brain when I try to manage new situations. So Mom called CHOP for help finding a nearby hotel, and to find out how long my appointments would be so that we could plan the trip home. She made the reservation for me and printed out maps and looked into transportation options for getting from the hotel to the hospital and from the hospital back to the train station. And then we heard from the doctor’s office that, actually, I didn’t have to be at the hospital early, because they wouldn’t know which tests I’d need ahead of time. My only appointment would be at 10:30 AM with the doctor, so we re-planned the trip for a single day, starting at 5:30 in the morning, and cancelled the hotel reservation.
I ordered the Amtrak tickets and studied the schedule for the Long Island Railroad, and wrote up a packing list, and put all of my papers together in one folder. I was still worried that I’d miss something the doctor said, or miss a train, or just get lost wandering through a strange city, but even more than that, I was afraid that nothing would come of this doctor visit, like all the others, and the resulting hopelessness, on top of the exhaustion of the trip, would wipe me out. But I was determined to go anyway.
And then, the Monday afternoon before my Wednesday appointment in Philadelphia, I got a call from the hospital saying that the original doctor had to cancel, but the replacement doctor could do a virtual appointment that same morning. A virtual appointment? As in, I wouldn’t have to go to Philadelphia at all?!
The woman I spoke to on the phone couldn’t explain why I was suddenly allowed to have a virtual appointment, when they’d told me two or three months earlier that it would be impossible, but I agreed to the change immediately. I couldn’t think it all through at that moment, though, because I had an appointment with the oral surgeon in an hour.
But after I got back from the oral surgeon, with thoughts of general anesthesia and swelling and bruising and 3D printed teeth swirling in my head, I started to worry that maybe CHOP had changed my appointment to a virtual one because they’d decided that I didn’t have a mitochondrial disorder, and therefore there was no point in seeing me in person.
I spent the next day canceling train tickets and looking into possible refunds (nada) and starting to finally feel the relief at not having to get on four, or was it five, or six, different trains in one day. And then I got the email with the link to my virtual doctor visit and did all of the pre-visit check-ins and I finally realized that Mom would be able to be there for my appointment after all, and so would Cricket and Ellie, and a lot of the anxiety that had built up over months finally started to dissipate.
At 9:30 Wednesday morning, I logged on, with Mom and Ellie sitting next to me and Cricket grumbling from her bed on the floor. First, I met the program director, and she was very nice and took some more family history and explained my genetic test results in more detail, saying that I had a rare mutation, as in, no one else in the database had the same mutation on that particular gene (though the database is far from complete). And then she told me about the tests they wanted to do (which I could do at home and send in), and she asked Mom if she’d be willing to get tested as well, to give them a more detailed sense of my genetic background. And then the doctor joined the visit. He did an abbreviated physical through the screen (look left and right, turn your head left and right, show your hands, back and front, and walk to and from the computer), and then he told me that it’s unlikely that I have a mitochondrial disorder, though an LMNA disorder would be an interesting possibility. But do the tests anyway, just in case.
I wasn’t surprised, though Mom and my therapist were both surprised and disappointed, having spent months telling me that this would finally be the breakthrough. For me, it was just one more doctor visit that ended with a ho hum instead of an answer, but at least I got to stay at home, in the air-conditioning, with Mom and the dogs. And it saved Cricket the trouble of having to spend the whole day worrying that I’d been captured by space aliens or enslaved by fire-breathing dragons, or whatever it is she worries about when her people are away. We were also able to celebrate her fifteenth birthday as a family and watch her eat all of her birthday hamburgers until she was well and truly satisfied (don’t worry, Ellie didn’t go hungry either).
Cricket and Ellie are my shining reminders that life can always get better, even when your body isn’t working the way you want it to, or your hair is something of a mess. They know that life will always be full of things that are worth looking forward to. Though not always hamburgers in particular.
If you haven’t had a chance yet, please check out my Young Adult novel, Yeshiva Girl, on Amazon. And if you feel called to write a review of the book, on Amazon, or anywhere else, I’d be honored.
Yeshiva Girl is about a Jewish teenager on Long Island, named Isabel, though her father calls her Jezebel. Her father has been accused of inappropriate sexual behavior with one of his students, which he denies, but Izzy implicitly believes it’s true. As a result of his problems, her father sends her to a co-ed Orthodox yeshiva for tenth grade, out of the blue, and Izzy and her mother can’t figure out how to prevent it. At Yeshiva, though, Izzy finds that religious people are much more complicated than she had expected. Some, like her father, may use religion as a place to hide, but others search for and find comfort, and community, and even enlightenment. The question is, what will Izzy find?
rachelmankowitz 
I cannot believe they were going to make you go in to see the doctor when a virtual appointment was what you needed! I’m so glad it worked out for you and that you may yet find a diagnosis. Not knowing is a killer.
It really sucks, honestly.
Going through something similar right now, but the furthest I’ll have to travel is 70 miles.
Still a lot.
Wow, what a hassle after all those months of worrying and planning! But I’m glad you got to do a virtual exam with your family present – dogs included – though like you I don’t understand why it was okay after the original doctor couldn’t make it, but not okay when you made the appointment months earlier! Such is life. I hope you find the answers and help you need through it all. 😊
Thank you! Being at home makes such a difference.
Oh my I hope you are well
Thank you!
I completely relate to the anxiety build-up surrounding all those logistics, Rachel. I’m glad you didn’t have to make the trip after all and am only sorry you don’t have answers yet.
Thank you!!!
At least you were spared the frustration of a pre-dawn train trip to find out nothing.
Very true!
Wish you speedy diagnosis and recovery
Thank you!
Well a no is an answer too. Something to rule out. Sending you hugs and healing thoughts
Thank you!
Take care
Nothing seems to go easily, I hope these are forward steps for you and getting the answers you seek.
Thank you!
Yep, not knowing is the worst part. Glad for the virtual visit and sending lots of good mojo. The dogs don’t know how lucky they were, too!
They’re pretty sure there should have been more hamburgers!
My goodness, what a roller coaster of planning and unplanning. Here’s hoping you get some answers instead of more ho-hum.
Thank you!
Hello
Oh my gosh, I am so frustrated on your behalf! I fear we will die old ladies before we find any helpful answers. I hope your next appointment brings answers! ❤️
I hope the same for you!
Hope your doing good
👍. It would be nice to have a for-real answer for a change.
Hello
Hello! 👋
How’re you doing
OK, I guess. How ‘bout you?
I’m doing good and thanks for asking
Absolutely.
Good luck to you and your mom, and Tami sends her best to Cricket and Ellie s well~!
Thank you!!!
I hope you will remain well, and your Mom’s surgery be successful. Cricket volunteering to wake you up in the night is priceless.
Thank you! And Cricket really means it! She’s much more persistent than an alarm clock.
For years my mother had shooting pains up the side of her face which she controlled with pain-killers. She described it as like the worst tooth-ache ever. She visited various doctors, dentists and oral surgeons but nada. She did find that acupuncture helped with the pain. Finally, she met someone in her doctors’ waiting room who was seeing another doctor in the practice and said maybe like him she had trigeminal neuralgia. Finally a diagnosis and treatment, she had the facial nerve frozen. Mum would’ve appreciated your frustration at the lack of a definitive diagnosis. We kind of assume doctors are all-knowing, they’re not.
I knew someone with trigeminal neuralgia, it was brutal.
Indeed
The book will go into the queue, but more importantly, I feel for the exhausted back and forth and up and down that you had to go through and all the steps in between…This is a medical maze that by definition shouldn’t be a maze at all, but a far more compassionate course of investigation. I hope you’re feeling ok, your mom continues to mend and the puppies regale you with much conversations filled with barks and giggles.
Thank you!
Dear Rachel, As I was reading through this and all of your concerns about this trip to Philadelphia, all that was going ’round in my head was that I live about 1-1/2 hour from there and would have met you there as an ‘assistant’ of sorts (meaning, we could get lost together) because I understand not liking to travel alone. I was so relieved that you could do your visit virtually! I applaud how you are able to handle the disappointments of not finding a diagnosis of symptoms so they can start to be treated! You have so much strength inside you!
Thank you so much!
Goodness sakes! What a rollercoaster of planning and stress. Thank goodness your mother helped with her concern and skills.
Absolutely!
I have always thought that a confirmed diagnosis is better than a ‘don’t know’. But at least you didn’t have to make the trip that was causing you so much anxiety.
Best wishes, Pete.
Thank you!
Glad it all worked out in the end and you didn’t have to travel.
Me too! Thank you!
Gosh. Having a few health issues myself, I really empathize with the anxiety part. Thank you for sharing your health journey with us. May you always be surrounded by those you love especially when you have challenges. Hang in there!
Thank you!
I have had several conversations on a topic you touched on in your wonderful post. It boils down to (in my opinion, I’m sure there’s a bit of tunnel vision involved) why medical professionals overall (not everybody, no generalizations here) are so reluctant to commit to a diagnosis. The repetitive “It’s NOT *insert hoped for resolution*” gets tiresome. I’m going through a similar thing with the doctors I’m seeing right now, no answers, just vague references to “it’s bad”. I AM glad you are able to contribute to the data base because in my opinion, that is a hugely important field, and the more information they get on various mutations in a gene or genes will help other folks down the line. I realize you’re frustrated by ‘another ho-hum doctor’s visit”, but knowing you are able to contribute to such an important work must be at least a little comfort. Cricket is 15? My goodness! She has the energy and spirit (from what you’ve shared) of a much younger dog! Happy B-day to you, Cricket!
Cricket has no idea how old she is, and she bites doctors; she is an inspiration!
Hello
Rachel this is so frustrating to have symptoms and not have a definite diagnosis. I do hope you will find that there is a doctor who will find one soon. I am just recovering from a hip fracture and have l also been told that my replaced hip is showing too much wear and will have to be redone. But this is a straightforward situation. X rays and CT scans can reveal what is wrong.Your case is more difficult. I have you on my prayer wheel.
Thank you so much! This hip replacement thing is no joke. I hope you have an easy surgery and recovery.
Thank you Rachel!
Good to read that your mother’s surgery has ended well; one less thing to concern both of you! As for the Philly trip, phew; all’s well that ends well. I’m sure there will be two puppy-dogs breathing easier; they have a way of knowing these things!
They know so much more than I do. It’s freaky!
I can’t imagine your fatigue after all that. I was tired just going along with you in my imagination! I guess you are back to knowing that some nameless something has you in its grips. May you find peace in the not knowing with the assurance that it is real, though unnamed.
It’s hard to hold onto reality without an accurate mirror, but I’m trying.
I agree. Growing up in a house of funhouse mirrors it is a challenge to see clearly.
Wow, what an ordeal. Looks like more to come. You should think about submitting your story to the Diagnosis column in The New York Times!
Interesting idea. Thank you!
Hey Rachel,
Whoa, this is upsetting to learn you are facing these serious health issues. I hope things are managed soon and you can begin a treatment program designed to help you very soon. Sending you big healing vibes girl! 🙏🏻
That would be awesome! Thank you for the healing vibes!
I’m glad things worked out regarding travel! I hope your mom is recovering well, too.
Thank you!
Take good care both of you!
Thank you!
Mitochondria disorder sounds like one of those jargonized terms that the medical professions uses to traumatize us from lack of understanding. Anyway, your support system seems excellent and I wish you good fortune with your medical challenges.
Thank you!
Glad you didn’t end up having to go to Philadelphia especially just to get told – No, we don’t have an answer. You don’t have what we thought.
Even though it is frustrating, the doctors just don’t know everything. They base their suspicions on data and not on actualities. There is a situation, so there must be this and this and this and this. . . . then when they don’t find any of the four “thises” they say, “Oh, since you still have the situation you are just one of those special people that the “thises” don’t apply to.” It is called science, but in no way is it exact. It just a lot of guess work and false conclusions.
Again, I am glad you didn’t have to leave home and were able to stay with your family and celebrate!
Thank you!
I would be totally freaked out if I had to make that trip. I am so glad you didn’t have to make a trip without answers. I’ve had tests, tests, and more tests. No answers yet. I understand your frustration.
Thank you! I hope you find answers soon!
Thanks, you too.
Hope your health issues find a solution soon.
Adorable! How long have you had Cricket, and Ellie for?
Cricket is fifteen and we’ve had her since she was a baby, Ellie is almost nine years old and we’ve had her since she was four and a half.