Monday, October 22, 2012

Diagnosis

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 NIH.com: 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.

 Bedhead.

Goobers.

14 comments:

Doing My Best said...

I'm so glad it wasn't something serious!! Both of your kids are ADORABLE =)!

Sara said...

They're TOTAL goobers, always. (Thank you!)

Jennifer said...

I'm so glad you got an answer AND it's nothing scary or serious. And amazing that your husband has an explanation after all these years! So crazy.

Erica said...

Wow! That is really interesting. I am SO glad you know what it is now.

Michelle said...

So happy you got an answer and it is something you can manage.

A'Dell said...

Oh my goodness, how INTERESTING. Man, I am so glad it's not serious or a bigger deal, but it must just feel so good to KNOW what he's got going on. And for Tim! Tim must feel like a puzzle piece has magically appeared. ANSWERS ARE SO GOOD!

(Dude, I am so happy it's not a big huge scary Thing. SO HAPPY.)

Sara said...

Thank you, all of you, for your support!

Jessica said...

I think it's so wonderful you figured this out, so Noah won't have to go through what Tim did. I love your mama bear attitude at the end.

Anne said...

Oh wow, when you said Tim had the same condition I didn't realize he didn't KNOW it until Noah's diagnosis. What a relief for all of you. I'm so glad it isn't anything scary, and you have grown-up proof right there in the same household that everything can be totally fine. That has to help.

Nilsa @ SoMi Speaks said...

The not knowing has to be the scariest part for patients and their families. Noah is in very good hands - great medical staff, supportive teachers and a family that cares for him. What kid won't thrive in that environment?!? I know Noah already does and will continue to shine!

k said...

Huge exhales.

bessie.viola said...

Oh, my heart. I'm so glad that he is okay and that you have an answer that you can work with. It sounds like he has fantastic teachers and doctors to help him along his way... and I already know his mom is fantastic and will be his best advocate. :)

Miranda said...

I hope knowing what is going on has given you some relief. Noah is SO LUCKY to have a mother (and father) so invested and to advocate for him as he navigates his path. xoxo

Home Sweet Sarah said...

I'm just now catching up -- but glad you have an answer (for Tim, too!) and treatment plan in place. You're a great mom and advocate for your boy :-)