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Monthly Archives: May 2022

Genetic Testing

            About a year ago I had to go to a Gastroenterologist, both because I was experiencing belly pain and nausea (still am) and because my Cardiologist was impatient for me to schedule my first colonoscopy.   The gastro took my concerns seriously and when he saw a note in my chart from a Rheumatologist saying that I have a clinical diagnosis of Ehler’s Danlos (a connective tissue disorder), he referred me to a geneticist to see what type of Ehler’s Danlos I have, because certain types can make a colonoscopy dangerous, and he didn’t want to take any unnecessary risks.

It took a while to get an appointment with the geneticist, and then it took a while for the first set of results to come back, which were inconclusive, and then it took a lot longer for a more comprehensive set of tests to be performed.

“That sounds exhausting.”

            I finally heard from the geneticist in March, and she said that there were a few genetic mutations (see, I AM a mutant!). Most of my genetic test results came back as “variant of uncertain significance,” because they’ve recognized mutations on certain genes (related to Connective Tissue disorders and mitochondrial disorders, in my case) but are not yet sure what those mutations signify. There was also a “likely pathogenic variant” on the LMNA gene, something I’d never heard of and had to google extensively. The geneticist referred me to a neuromuscular specialist to look into a possible LMNA-related disorder, and sent me for more tests see if I might have a mitochondrial disorder, based on the variants of uncertain significance, and it turned out that there was something there, so she also referred me to a hospital that specializes in mitochondrial disorders.

            I am not used to doctors taking me seriously, or even taking my test results seriously, so I haven’t quite taken in the idea that there might be a name for what I have, and doctors who are willing to try and treat it. I’m still worried that this will be another dead end and I’ll be back on the doctor roller coaster by the fall, with no validation and no treatments to show for it.

            The LMNA thing is still mostly a mystery to me (my brother, the doctor, had never heard of it), but the research I’ve read says that pathogenic variants on the LMNA gene can cause diseases like: muscular dystrophies, dilated cardiomyopathy, premature aging disorders, and a bunch of other diseases I’ve never heard of. There could be a connection between the LMNA variant I have and the scoliosis that runs in my family (on my mother’s side). There could also be a connection between some of my muscle weakness and walking problems and heart murmur and all of this, but the research I was able to find was mostly about much more serious disorders related to the LMNA gene variants and didn’t sound, overall, like what I’ve been experiencing all these years.

            My research on mitochondrial disorders came a lot closer to fitting my situation, though, with a list of possible symptoms like: exercise intolerance, muscle weakness, shortness of breath, and severe exhaustion. Type 2 Diabetes can also be a symptom of a mitochondrial disorder, and that runs on my father’s side of the family, and has always been a concern for me.

            Mitochondrial disorders cause cells to have trouble metabolizing proteins, so the body doesn’t get adequate oxygen or energy, and instead produces lactic acid and other organic acids that can be toxic to the body. If I do have this, I have a mild version (compared to children who show signs in infancy), which would explain why it’s been hard to diagnose.

            The hospital that specializes in mitochondrial disorders has already requested a lot of my previous medical records, including MRI’s and spinal tap results. I’m not sure what else they will need in order to determine a diagnosis, but the articles I’ve read have mentioned muscle biopsies as likely next steps, and they may also want me to redo scans, or even, god forbid, redo the spinal tap which sent me to the hospital last time around.

Miss Butterfly held my sock ransom until I came home

It makes sense that mitochondrial disorders are hard to diagnose, because symptoms can range from mild to severe, involve one or more organs, and can occur at any age. Symptoms can include: poor growth; muscle weakness or pain, low muscle tone, and exercise intolerance; vision or hearing problems; learning disabilities or developmental disabilities; autism spectrum disorder; heart, liver or kidney disease; gastrointestinal disorders, swallowing difficulties, diarrhea or constipation, vomiting, cramping or reflux; diabetes; increased risk of infection; neurological problems (seizures, migraines, strokes); movement disorders; thyroid problems; respiratory problems; lactic acidosis; and dementia.

            There’s also no known cure for these disorders, just experimental treatments to help reduce symptoms, including vitamins and supplements like: Coenzyme Q10, B complex vitamins, Alphalipoic acid, L-carnitine, Creatine, L-arginine; and exercise, rest and physical therapy. They also say to avoid alcohol (check), cigarettes (check), extreme temperatures (I try), lack of sleep (hmm), Stress (hmm) and MSG (which could explain why I have developed a bad reaction to the Chinese food I used to love.)

“I’ll eat your Chinese food for you.”

            So it looks like I will be spending the summer being examined again, with who knows what potential results. The geneticist also made sure to give me an appointment for next year, in case none of these diagnoses pan out. She said that the genetics field is discovering new things every day, with more sensitive tests coming soon, and more research on how gene mutations influence different diseases. So I will probably see her once a year until they are able to figure out what’s going on with me and how to treat it.

            Wish me luck!

“Good luck, Mommy!”

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?

Envy and the Yetzer Hara

            There’s a Jewish concept called the Yetzer Hara, or the evil inclination, which (along with the Yetzer Hatov, or the good inclination) at first glance seems to be a version of having a devil on one shoulder and an angel on the other, but it’s more complicated than that. As usual.

“Why is everything so complicated?”

            The Yetzer Hara has often been reinterpreted not so much as an inclination to evil, but as an inclination that can lead to evil. The rabbis say that the inclination to reproduce, or to create new things, or to succeed in life all come from this “evil” inclination, and therefore we need some amount of it in life even to survive, let alone to thrive. We need to have ambition and impulsivity and individual drive, but there’s a limit; though they don’t clarify exactly where those limits might be.

            The same rabbis say that if we took the Yetzer Hatov, the inclination for good, to an extreme we’d also have trouble. Because if we were always peaceful and calm, and never ambitious, we wouldn’t bother to grow crops, or have children, or make progress in science or art or philosophy, or even religion. We would be satisfied with whatever we had and peacefully die off. So the ideal is to find a balance between the two inclinations.

            But I’m not sure why the rabbis felt it necessary to call something “evil” that, in itself, isn’t evil at all, and to call something “good” which is more like peacefulness rather than goodness, and I think these names, and therefore these judgements on our inclinations towards creativity or peacefulness, are part of the reason why we struggle so much, both with accepting our ambitions and with accepting our need for rest.

“Rest is essential.”

            I’ve been thinking about this question of what’s really evil, and what is just called evil in our society, because I’ve been feeling a lot of envy for what other people have, or what they look like, or just who they are, and having these feelings has been making me feel like I’m a bad person, and stops me from being able to look at these feelings head on, because I’m afraid I will discover that I really am bad.

The Tenth Commandment says that we shouldn’t covet (or envy) what our neighbors have. The other commandments focus on doing or not doing something, but this one is about what we feel. Our ancestors, I guess, were afraid of their emotions and judged those emotions as if they were equal to bad action. But why?

Research on envy distinguishes between malicious envy and benign envy. Malicious envy is when you want to take something away from someone else, or hurt the person who has what you want, and benign envy is when you see that someone else has something you want and that motivates you to achieve that thing for yourself.       

But what if envy itself is neutral, not positive or negative, just a human emotion that we can feel, and learn from, without having to judge ourselves for having it? What if envy itself isn’t benign or malicious at all, and it’s only what we do with our envy that gets us in trouble. What if we could allow ourselves to feel the envy, and then go on to feel the disappointment or grief of not being able to have what we want, or the determination and passion that helps us keep working for what we want. What if, by allowing ourselves to feel the full weight of our envy, we would realize that we don’t want what someone else has, but we want to feel the way they seem to feel, and then we can start to work on finding a better way to reach that feeling.

            The problem is that most people, including me, have trouble looking at those shadow parts of ourselves without being overwhelmed by crushing guilt and self judgement. And who can sit with that for very long? And therefore we can’t get to all of the important insights that envy, and all of our other difficult and painful emotions, have to offer us.

“What’s guilt?”

The fact is, the danger doesn’t come from envy but from unacknowledged and unprocessed envy. If I can sit with the envy long enough, it can tell me what matters to me and what I want to change in my life or in the world around me.

Envy has been a constant companion for me, so maybe that’s why I take the Tenth Commandment so personally, and feel so judged by it. It feels as if God is leaning down from Mount Sinai and pointing a big finger at me and saying: you, you’re the bad one. But I can’t help feeling envious. I envy people who are healthy, or who grew up feeling safe, or who’ve had better luck in love and in their careers. But feeling envious is not the same as taking an evil or hurtful action towards another person.

            Our fear that our emotions will take over and consume us is clearly old, both ancient in our society and old in our lifetimes, from childhood, when we had so little ability to manage the emotions overwhelming our little bodies.

            But if we, as adults, can’t distinguish between our feelings and our actions, and call both equally evil, then we will forget to distinguish between the people who choose to act in destructive ways and the people who don’t, because we will think we are all the same. And if we stay in that place, then we won’t be able to take any real responsibility for how we react to our emotions, and that space between feeling and action, where we have the opportunity to choose the path we will take, goes unexplored.

            I think what the rabbis were pointing to in the Yetzer Harah and the Yetzer Hatov is that they are inclinations, not acts; having an inclination, or a longing, or even a need, does not determine the action we will take as a result. It informs it, yes, but it doesn’t make anything inevitable. And we are so lucky to have these emotions and inclinations, these little angels (though definitely more than just two extremes, I think) sitting on our shoulders and telling us the more complex picture of what we feel and what we want, so that we can look at our feelings and look at the facts before we choose how to act.

            I just wish we could give these inclinations better names, like, I don’t know, Maude and Henry, so we could treat them like the friends and confidants that they are meant to be, and not as the strangers, called Good and Evil, that they almost never really represent.

“We won’t have to share our chicken treats with Maude and Henry, will we?”

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?

End of the Synagogue School Year

            I need time to stop again. I keep needing time to stop; keep needing a chance to catch up with my life, because it’s running too far ahead of me.

“I’ll catch it for you, Mommy!”

            I’m looking forward to the end of the semester, and the beginning of summer vacation, because I need a break; but it’s sad that this will be the end of working with this particular group of kids, and probably this particular teacher’s aide, all of whom have had so much to teach me. There’s so much more I want them to learn, too.

            I feel pretty good about what my students have learned this year in Judaic Studies – both the ethical lessons from Leviticus and our virtual travels around the world to visit different communities of Jews throughout history. I keep finding more places and more eras where Jews have lived interesting and unexpected lives, and I love that I get to share all of this with the kids, and help them build a wider and deeper and more flexible idea of what it can mean to be Jewish. But their Hebrew needs work, and there are so many lessons I’ve had to cut from my lesson plans in favor of something else – a holiday, a musical event, etc. – and could never find time to add back in.

            But also, I get anxious before each class: worried I’ll leave something out, or miss something that’s going on with them. My expectations of what I should be able to do two afternoons a week, in eight or nine months, is out of whack with what’s truly possible, but still I always feel like I’m falling short.

“Did you just call me short?”

            Of course, part of my summer vacation will be spent revising lesson plans to see how I can fit more in, and teach things more effectively. I need to work on my ability to teach through games – especially games like Jeopardy, which my teacher’s aide did with the kids twice this year to spectacular effect. And I need to figure out how to repeat lessons more often, but in different ways, until the material really sticks, for most of them rather than just for some of them. And I want to revise my readings to better fit their current reading levels.

            But before I do that, I need a nap. And I need a chance to refocus on my own work and my own learning process and getting my own stories told. I tend to live in a state of high anxiety during the school year, and I need to transition out of that into something more sustainable that allows for more creativity and imagination.

“And you need to take your dogs for more walks.”

            But, I’m worried that my teenage teacher’s aide – a fourteen year old boy with the sense of responsibility of someone much older, and a really lively curiosity and comfort level with the kids, and of course, an endless supply of ideas for how to gamify learning and keep the kids on their toes – won’t come back next year; that he’ll go on to teach his own class, or leave the synagogue school completely in favor of brighter pastures, like, I don’t know, the school play, or an after school tech club, or starting his own business out of his parent’s garage. And I’m worried about all of the unknowns for next year – whether I’ll have a classroom of my own or stay in the cavernous social hall, whether I’ll have a teacher’s aide at all, and what new and unexpected challenges my next group of students will bring with them. And I’m excited that the kids from my first ever class are going into their B’nei Mitzvah year, and every other week I will get to see them coming into their own and claiming their Jewishness, surrounded by their friends and families. And I’m hopeful about our new educational director and all of the energy and ideas and collaborative spirit she will bring with her.

            But right now, I really need a nap. I need to rest and recover from all of the lessons I’ve learned over the past three years. I just need time to stop for a little while, so I can catch up with myself, and feel rested and ready for whatever comes next.

“Ah, nap time.”

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?

Cricket Has a Big Mouth

            Cricket has a big mouth. I don’t mean anatomically, because she is a pretty small dog, eleven pounds or so, but she just won’t shut up. She barks at anyone and everyone who dares to enter her yard (it’s a shared yard, for the whole co-op, so people are always coming and going), and she yells at us for all manner of sins: like, not giving her more treats when she’s already had three, or not taking her out as soon as she wants to go, or not being able to figure out what she wants when she’s explicitly barked it at us twelve times in a row.

“How do you not understand me?!!!!!”

            She doesn’t bark at her friend Kevin, the one year old mini-Goldendoodle. She usually just swats at him with her paws to try to get him to pay attention to her when he dares to lie down on the grass and chew on a stick. But she barks at her sister, Ellie, and at pretty much anything that moves.

            If Cricket were more trainable (and she has proven to be distinctly untrainable), I would get her some of those floor buttons that have become popular recently in so many videos, where dogs are able to express themselves in English by pressing specific buttons with their paws.

            The problem is that, if she could actually be trained to use the buttons, she’d stomp on them so hard, and so often, that she’d break the buttons for ‘out’ ‘treat’ and ‘lap’ on the first day.

            Our neighbors, even the ones who like us, say, oh yeah, we heard Cricket through the window. We always know what Cricket is thinking.

            But then, she curls up on her grandma’s lap, or next to Grandma on the couch, or in tiny ball in her own doggy bed, and she looks like the sweetest puppy on the planet. Even with her little pink cauliflower growths, and age spots, and thinning hair, she still looks angelic and adorable and incapable of being difficult.

            But only when she’s sleeping.

            I’m afraid of what’s going to happen when Mom comes home from her hip surgery in a few weeks. I’m pretty sure that I will be the lucky recipient of most of Cricket’s anger when I try to put the dogs in my room to protect the visiting nurse, or when Mom closes her bedroom door at night to protect her new hip from being used as Cricket’s sleeping spot. I don’t know how Cricket is going to survive, or how my hearing will survive, really.

            It’s hard to be wholly negative about Cricket’s big mouth, though, even though she’s also used it to bite me a few times over the years (for daring to bathe her or comb her hair). She is a perfect example of how you can love someone who is deeply flawed. I may not love the barking itself, but I do love how adamant she is about being herself, no matter what, and I love that she knows what she wants and makes sure to ask for it. And while it would be nice if she could lower the volume, or learn from her mistakes, or compromise every once in a while, I know that’s not going to happen. And that’s okay.

            The fact is, Cricket is going to be fifteen years old this July, and she is exactly the same as she was at six months. She has only intensified over the years, like a really stinky cheese. Luckily for both of us, I love cheese.

“Me too!”

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?