November 28, 2018

Go with Your Gut

Posted in AMT's Faves, Life's Little Moments, My Take on Autism tagged , , , , , , at 9:42 am by autismmommytherapist

It all started so slowly, so insidiously, I barely noticed.

In late October of 2017, there was the repetitive movement of a slight bending of the head and neck of Justin, my severely autistic teenager. This followed with a twitch of the mouth here and there. Neither were a constant, but both occurred enough that I made a mental note to tell his neurologist when we returned from Disney in early November.

Disney must be magic because I witnessed nary a twitch the entire five days we were there. I remember thinking on the plane home this must be one of those “autism things,” events that he usually cycles through and which eventually stop.

Within seconds of entering our home he is bent over at the waist, eyes closed, moving up and down, sitting on the floor, rising. He does this for thirty minutes straight. Something tells me the magic of Disney has worn off, and we are in trouble.

Thus began a year-long odyssey to diagnose and treat my son.

I notice that he is now doing some eye rolling when he’s in these strange postures, and when I contact our neurologist I mention my concern about seizures. We are able to schedule an EEG for ten days later, where the activity is captured, and seizures are ruled out. Our neurologist then recommends an MRI which will require sedation because we could never keep Justin still for that long, an appointment which requires a two month wait and will hopefully rule out tumor. We take him, he is a trooper. The MRI is fine.

Justin is not. The movements are getting worse and worse. At times he is engaged in them for ten, twenty, thirty minutes at a time. He has them at school, at home, in the community. My once mostly compliant child’s movements make it a struggle to get him out of bed, on the bus, to the dinner table, out of the bath tub. My previously joyous child is devoid of delight, lacking in the smiles and laughter that were his trademark.

Despite how difficult his behavior has become, it is the latter issue that breaks my heart.

My husband and I know the value of garnering second, third, and even fourth opinions after fifteen years of doing the autism dance with both of our boys. Justin goes to CHOP to see a developmental pediatrician annually just to keep him in their system. That December we end up seeing doctors who are not our “regulars,” and they suggest he might have mitochondrial disorder, and recommend we see a physician within their Mitochondrial Disorder Program.

The following month, we do. Our doctor states unequivocally he does not have the disorder, but he might have catatonia.

My heart literally skips a beat.

I don’t know much about autism-related catatonia, but what I do know is not promising. Of course my husband and I do our Google research, and the prognosis for this disorder is not good. If it becomes malignant catatonia there is a chance he could die. The treatment is benzos, and in difficult cases, electric shock therapy.

We are sickened, and distraught.

At about this time our neurologist contacts one of his colleagues who is a movement disorder specialist. He sends him videos of Justin and comes back with a possible diagnosis of tardive movement disorder, a result of a medication we’d put him on years ago for aggression. We don’t rule it out, but what’s he’s doing doesn’t look like videos we’ve seen of the disorder, and we feel we want another opinion. I contact Kennedy Krieger (where ironically Justin received his actual autism diagnosis thirteen years earlier), and am rewarded with an email from a psychiatrist who specializes in catatonia. She won’t take him on as a patient but will see him for a one-time consult. While we wait for the appointment we put him on medication to help him, and for two weeks he seems to turn a corner.

It works for a while, until it doesn’t anymore.

We meet with the specialist at Kennedy Krieger, who sees him do the movements and pronounces it slam-dunk catatonia. Jeff and I are somewhat relieved to at least have a diagnosis, but sobered by the implications. I am always the “big picture” one in the relationship, and all I could think was, what if this gets worse? Who will help him when he’s seventy?

He was doing so well even with severe autism and OCD, why this too?

We monitor Justin closely, and he doesn’t get worse, but he doesn’t get any better either. His neurologist consults with a colleague in Israel who after viewing his videos suggests drug-related dystonia, different than tardive dyskinesia but also in the movement disorder family. We wean him off the potentially offending drug, see a recurrence of the aggression it had quelled, see very little improvement off the medication.

I feel like we are missing something. None of the myriad diagnoses he’s had seem to completely fit. The movements completely disrupt his life. He has to stop the horseback riding lessons he’s loved since he was five. He is asked to leave a camp for the first time in his life. His personality has changed drastically. His father and I are overwhelmed.

I can’t even imagine what it feels like now to be my son.

One night my husband decides to do some more searching, and he finds a neurologist who specializes in movement disorders at UPenn. We miraculously get an appointment for three weeks later. We expect he will corroborate the diagnosis of either tardive or dystonia as we no longer believe he has catatonia, and are hoping for some other treatment alternatives and a fresh look. That day we have to battle Justin to get him out of the parking garage. I recall thinking I hope this visit is worth the fresh bruises on my husband’s arm.

It turns out, it is.

After a very thorough examination our movement disorder specialist lets us know that both from the videos and what he’s seen in his office he believes Justin does not have tardive or dystonia, but instead tics. He doesn’t qualify for a Tourette’s diagnosis as he doesn’t have the verbal piece, but he is confident in his diagnosis, and both outlines a treatment plan and a referral to a doctor at CHOP for a second opinion with a colleague he works closely with.

This is the first diagnosis he receives that feels like it fits.

We are to start by increasing a medication he is already taking, and within a week we see improvement that has been consistent now for three months. We follow through and make an appointment with our UPenn’s doctor’s referral at CHOP, and he corroborates the diagnosis, and says it is common in autistic patients with the onset of puberty. He agrees with us that he is doing well and does not recommend any changes medically from the medication we put him on in September.

It’s now been thirteen months since hell descended on our son. He is improved, but we still see the movements, mostly in his face, neck and arms. He is however infinitely better at school, at home, and when we take him out in the community. We’ve seen some of his joy return, although the smiles and laughter are somewhat fleeting. He seems more at peace with himself.

He wants me to hug him again.

I don’t know how this will all turn out- of course I can easily say this about autism in general, and that this is just one more added degree of difficulty. I will, however, say this. As a community, our parental gut instincts are invaluable. I believe we finally have the correct diagnosis for Justin, but had we stopped asking for opinions months earlier we would never have gotten to this point, and he might have received the wrong treatment which could have had lasting consequences. I learned a lot from this odyssey- if a diagnosis doesn’t feel right, keep asking questions. Don’t worry about hurting your child’s primary doctor’s feelings if you seek a second opinion- a good doctor will advocate you do that, as ours did. Finally, especially with non-verbal, severe autism, it can be extremely difficult to diagnose things as they come up since our children can’t self-advocate. We have to do our research. We have to be relentless.

We have to never give up.

 

Follow me on Facebook at Autism Mommy-Therapist

Advertisements

6 Comments »

  1. Grandma said,

    And thank God for Justin he has parents who never give up.

  2. misifusa said,

    Sending you all hugs! You are an inspiration to moms everywhere! Love you!

  3. same story here! said,

    Yes, our son has the exact same diagnosis and we contacted the same expert at KK. What you write here is exactly our story. It all started slowly with no one to guide us. On top of that, since many people (therapists) wrongly think it is non compliance at first, the diagnosis gets missed so often until it becomes obvious and more severe. There are also so few experts in Autism Related Catatonia. That has to change as it does affect 17 percent of the autistic population. We also had to stop the horseback riding and everything else. The complete change in personality was heart wrenching as was the hours upon hours of getting stuck everywhere. Is your son on Lorazepam? It didn’t help our son at all as it was difficult to increase the dose without side effects.
    We never considered ECT either (can’t even imagine!) but went another route and he is doing well with the movement now. The getting stuck for hours everywhere…a real nightmare to say the least. As if the severe autism, OCD and other issues weren’t enough as you say! I can totally relate!

    We also saw many doctors who ruled out Tourette’s etc. and thought about suggesting other movement issues. It was inexperience on their part. It was classic Autism Related Catatonia. The KK was correct in our case.

    • I am so glad you got a definitive diagnosis too, and glad KKI was right for you. Half the battle is just knowing what they have. I wish you the best of luck, hang in there and remember to take care of yourself!


Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: