Tuesday, September 20, 2011

Neuronal Ceroid Lipofuscinosis (NCL)? Billy's Story (Part VII)

By Dr. Jonathan Mitelman and Barbara Kelly

Continued from part 6

When we last left Billy he had responded to the medication for possible seizure activity quite well for two weeks. Then the symptoms, including unusual behaviour, returned.


Dr. Mitelman: The reports of a calmer, happier Billy were welcomed by all. Barbara was talking about how the playful puppy-like behaviour that had all but vanished had returned and was now once again part of Billy's day. And with it came more restful sleep, for everyone.

We all breathed a sigh of relief. Again.

But, about two weeks later, in typical "Billy" fashion, everything changed. Barbara called to say they had a sleepless night, full of tremors and pacing. Finally the agitated dog gave way to sleep around 5 a.m.

Perhaps this was just an isolated incident? Wrong.

Add to that the loud whining and crying. Tremors became more frequent and much stronger. Billy's agitation was growing. And after each episode came a collapse into deep sleep for a number of hours.

I consulted with the neurologist. What were we missing? Had something new come to the surface?

What else was coming out of the woodwork?

We adjusted the dose of Levetiracetam, each time with temporary relief though only for a few days.

And then Barbara called to report the symptoms had returned.

Barbara:  We were exhausted. And I was always waiting for that "next episode" that would give us the clues we needed.

Despite Billy's obvious discomfort and lack of sleep, he was always a wonderful dog. In his calm moments he loved to snuggle, was loyal and affectionate. Tail wagging. And very dedicated to me.

But his agitation was increasing, and I felt we needed to explore other options.
I asked Dr. Mitelman to seek out specialists to help.

And I wanted to have a second neurologist look at Billy.

Dr. Mitelman:
I consulted with neurologist Dr. Linda Shell. She too agreed the signs were very vague, but perhaps Billy was on the cusp of something developing. She led us in a different direction.

Perhaps Billy had a degenerative disease, slowly causing deterioration in his brain, called "Neuronal Ceroid Lipofuscinosis (NCL)". 

I forwarded the article to Barbara.

The clinical signs are reduction in vision, tremors, ataxia (lack of muscle co-ordination), hypermetria (involuntary movements), behavioral abnormalities like aggression and hyper sensitivity and, ultimately, seizures and death.

That was certainly not news that was easy to deliver. 

Although visibly upset, Barbara agreed to think about testing for this condition, but she wanted to have Billy assessed by another neurologist first.

Barbara: The thought that Billy might have this life-threatening condition made me feel sick. But I knew we must try to find some answers and give my poor dog some relief. And I knew Dr. Mitelman was committed to Billy and supportive of my family.


The meeting with the second neurologist went well. I took my best friend with me to help gather the information and make decisions. Billy was given a thorough examination, though the doctor did not do anything unusual and confirmed that he had no notable deficits from his prior disk injury.

The doctor viewed the videos we took and reviewed the journal I had been keeping. I felt we had more to offer by way of clues this time.

Although Billy had some behaviors associated with focal seizures, she wasn't convinced that was what we were dealing with.

This neurologist was the first person to say that she was inclined to believe that Billy's tremors might be associated with a pain response.

I had nothing to offer, I couldn't see any obvious signs of pain. 

She requested we do an MRI and recommended we add another medication. She prescribed Gabapentin, a drug used to manage both seizures and pain.

At this point, I must add the mounting costs of Billy's veterinary expenses were beginning to impact our family. The MRI would need to be delayed by a couple of weeks so we could work the cost into our budget.

Dr. Mitelman: When Barbara brought Billy back for follow up she seemed relieved to have a plan in place. Keep in mind we were still dealing with Billy's itchy skin and constant cleaning regime.

We monitored the use of the two medications and anxiously waited for the results of the MRI.


Related articles:
When A Small Sore Turns Into A Catastrophe: Billy's Story (Part I)
Life-threatening Infection Resolves; All Is Good? Billy's Story (Part II)
What Is Going On With Billy's Skin? Billy's Story (Part III)
The Plot Thickens: Billy's Story (Part IV)
I've Never Seen That Before: Billy's Story (Part V)
Billy's Diagnosis Still Unknown: Billy's Story (Part VI)
Neuronal Ceroid Lipofuscinosis (NCL)? Billy's Story (Part VII)
Time To Make A New Plan: Billy's Story (Part VIII)
Atopic Dermatitis? Billy's Story (Part IX)
It Is Not Neuronal Ceroid Lipofuscinosis But What Is It Then? Billy's Story (Part X)
My Dog Has A Gut Of Steel, Doesn't He? Billy's Story (Part XI)
Feeling As Though Running Out Of Options: Billy's Story (Part XII) 
Fighting Fire With Fire Backfires: Billy's Story (Part XIII) 
A Second Endoscopy: Billy's Story (Part (XIV)
Staying The Course: Billy's Story (Part XV) 
Fewer And Fewer Solutions Left: Billy's Story (Part XVI)

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