Monday, October 22, 2012


Myoclonus Dystonia Disorder. Do you know what that is? It’s a mouthful. It’s also the syndrome with which Noah and Tim have been diagnosed. Tim has lived without an answer for forty years and now he has one. We are so relieved to have that answer.

Let me back up a few weeks. I brought Noah to the pediatrician because I was concerned about the frequency of the high fevers he had been having lately. They had been reaching 104 on a regular basis for a few months and I was worried there was something more going on than just “a virus”. When the doctor asked the weighty question “so what else is going on with him?” I launched into the list of strange movements and tics and jerks he’s been displaying. The involuntary jerking has been going on for a year or so but we always thought it was something he would outgrow. Much like how he slowly mastered running with fluidity, we thought his fine motor skills were just lagging his peers and he would catch up at some point.

But then we started noticing he was having trouble controlling his arms and hands when using a spoon or fork or holding a pencil. His arms and torso would jerk and twitch and cause him to spill or have wobbly letters. He began compensating by bringing his mouth to the spoon or fork instead of the food to his mouth...just so he wouldn’t have to use his arms as much. He began telling me he didn’t “like” to write or color because he couldn’t control the movements. Then his teacher asked us about his eye blinking. The eye blinking tic would start and stop depending on how tired or anxious he was at that time. The start of the new school and getting into that groove exacerbated the tic.

We didn’t run right to the doctor because the symptoms Noah was displaying mirrored symptoms that Tim has had for years, decades. Tim has learned methods of compensating for his tics and twitches but still steadfastly refuses to write by hand unless forced. He spent his developmental years being shamed by teachers and peers for his terrible handwriting and became extremely self-conscious of what he deemed a “defect”. We saw the same symptoms in Noah and after observation decided it was time to bring it up with the pediatrician.

As luck would have it, he got another fever and we already had the appointment for Chloe’s one year well-baby visit. Our pediatrician didn’t seem concerned when I first described his symptoms because he wasn’t displaying them at the appointment...until he was asked to hold still so the doctor could listen to his heart and breathing. Concentrating on holding his body perfectly still caused his muscle jerks to increase tenfold. The doctor didn’t like what he saw and immediately called the children’s hospital for a phone consult with the head of neurology. We had an appointment a week and a half later in an office that can take months to get into. I thank the universe everyday that we have a proactive pediatrician (who also happens to live across the street!) who advocates for us when we need it the most.

Our appointment with the Neurologist was eye-opening. It was in that office that we found out Noah does not have epilepsy (we do have a family history) but has a rare genetic syndrome called Myoclonus Dystonia Disorder. M-D can be passed on by either parent but the children who receive the genetic mutation from the father are far more likely to display symptoms. From Disease characteristics. Myoclonus-dystonia (M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include obsessive-compulsive disorder (OCD), depression, anxiety, personality disorders, alcohol abuse, and panic attacks. Symptom onset is usually in childhood or early adolescence but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. M-D is compatible with an active life of normal span. Genetic counseling. Myoclonus-dystonia is inherited in an autosomal dominant manner. A proband with M-D may have inherited the disorder from a parent or have it as the result of a de novo mutation; the proportion of cases caused by de novo mutations is unknown. Each child of an individual with M-D has a 50% chance of inheriting the mutation. In general, maternally derived SGCE alleles are not expressed and paternally derived SGCE alleles are expressed. Thus, almost all children who inherit an SGCE mutation from their father develop symptoms, whereas close to 95% of children who inherit an SGCE mutation from their mother do not. Prenatal testing and preimplantation genetic diagnosis are possible for families in which the disease-causing mutation is known.

Whew. That’s a lot to digest. What we know: he’s ok. He’s FINE. This is an answer to a question that has been nagging us for a while and Tim for even longer. Noah’s symptoms are still very manageable and may (or may not) worsen as he gets older. Our plan is to monitor him, keep him well-rested (hello, earlier bed time!), well-nourished (more whole foods, less processed stuff...just healthier all around), well-exercised (healthier, developed muscles will give him better control) and partner with his teachers to get him whatever Occupational Therapies he may need to cope with it all. We’re not medicating him because we don’t yet need to...that may be a necessity down the road but until then we’re staying the course. His pediatrician and neurologist will keep tabs on him as well.

Tim has lived with this for decades and has managed his symptoms to the point where they’re nearly unnoticeable outside of those closest to him. I know we can help Noah manage his symptoms in the same manner. It is so important to me that we don’t let him know there is anything “wrong” with him. Not at four. His teachers have been wonderful and communicative and taking action to get Noah the OT he needs. We’ll have a 504 plan in place for him in the next few weeks and that plan is what will tell his teachers how to help him excel inside his “condition”. He will NOT be punished for poor handwriting. He will NOT be ostracized by his peers or made to feel less capable or accomplished. I will NOT allow it.

He’s brilliant, my boy. He’s funny, he’s smart, he has the best and most perfectly timed delivery. M-D will never define him. Ever.



Thursday, October 18, 2012

Against my nature

In a past life I was crafty. I enjoyed making things and creating and getting covered in paint and fabric remnants. I have a “To-Do” list a mile long and most of the items read like a Jo-Ann Fabrics/Michaels Crafts/Home Depot shopping list:

Buy an old bench and paint it for the front hall! (a graphic stencil??? Yeah!)
Sew a pouf for Chloe’s room
Recover the old chair in the basement
Build shelves in the bathroom nook (aka TIM build shelves--I’ll paint)
Paint the laundry room
Make personalized stools for kids
Homemade thank you cards
Sew Halloween costumes
Install and paint board and batten in front hall--modern cottage style? maybe, hmmm.
Install hooks for coats and bags
Repair bathroom faucet
Paint hallway
Paint front porch columns and railings

And on and on and on. Until recently, I let that list collect dust. Yesterday I threw it away. Yes, there are things on there I still wish to accomplish (hello, front hall organization, I’M LOOKING AT YOU (for the fifth year)) but I realized I have limited time. And limited ability. I don’t like doing projects on the weeknights and at this point that’s all the quiet time I have available. Our weekends are generally busy with social obligations, birthday parties, work and family time (like everyone’s weekends...we are not unique, I know). That is time better spent on those endeavors and less on trying to pack in projects that cause Tim to reach nuclear meltdown.

I’m letting it go. Letting go of the wish to be super-productive and do it all. I can’t. I have time for work, I have time for my family, I have time to straighten up my house and now I have the (small) resources to pay someone else to lighten my load. That is SUCH a freeing feeling. That broken faucet in our bathroom that never had hot water and we lived like that for FIVE years because we thought it was going to be a ridiculous amount of money to have fixed/replaced? The handyman we hired fixed it in 20 minutes and for $50. Bam.

That old, rustic front-hall bench I have been searching for for years so I can paint it and make it look amazing with a stencil or something? I’m going to Ikea this weekend and picking up a basic white bench that will serve the perfect purpose (I might still stencil. I’m not DEAD inside.). Yes, it may not be unique but it’s EASY (minus the visit to Ikea on a Saturday...yikes). While I’m there I’m buying the hooks for the coats/bags and bringing that handyman back to put some wood up on my walls that I will then paint in one night. Voila, front hall organization.

I WANT to be creative and crafty and sew my little heart out but I can’t. And I won’t let myself feel guilty about it either. You all keep pinning on Pinterest and posting your craftiness and I’ll admire it and then write that check to the handyman for doing my bidding. Poor guy, he really didn’t see this coming.

Monday, October 1, 2012

A request for October

September kicked my ass. School started, school stopped (union strike...just super), school started again, work got nuts, work quieted down, work went crazy again, Chloe turned One (more on that later when I can gather my thoughts on Last Baby Turning One), minor breakdown about life and The Future and The Plan, and on and on. Life has been moving at a breakneck speed and taunting me to catch up. I need the month of October to be cool. So, hey, October? If you could just bring the calm and gentle I would be very appreciative.

I turn 31 in two days. Turning 30 didn't bother me or really mean that much...I had a 10 day old baby and a three year old who had just declared that he really wished his sister would go back to the hospital. Last year's birthday was a complete blur of non-stop nursing, sleeping in two hour increments and perhaps there was cake? I really couldn't tell you. My 30th year was bookended with a birth and a first birthday and some good and bad in between. It was a year in which I grew up even more and started to feel like maybe, just maybe, I was getting the hang of this adult business. 31 though...31 is feeling strange. It's not old (oh, I know this is true) nor is it young (say the wrinkles on my face) but it's there. This strange feeling that something is about to happen that will change our course.

What I hope is really nothing is Noah's visit to the children's neurologist on the 9th. We, and our pediatrician agreed, know that he has some conditions that require a visit to the neurologist and most likely an MRI. This is not out of left field and we're extremely grateful that our pediatrician didn't blow us off. While we wait and see what the diagnosis is (if there is one), we would appreciate your happy, healthy Noah thoughts any which way you choose to send them.

Again, October, I'm not asking for miracles or the lottery winnings or anything out of the ordinary...just give me a healthy boy and a some pumpkins from the patch. I don't really need or want more than that. Oh, except maybe an ice cream cake. That would be perfect.