A condition so rare some doctors don’t believe it exists

Karen Cafferky and her son Ethan in their home in Ballaghaderreen, Co Roscommon. ‘When your child has a rare condition it’s very isolating.’ Photograph: Brian Farrell
Karen Cafferky and her son Ethan in their home in Ballaghaderreen, Co Roscommon. ‘When your child has a rare condition it’s very isolating.’ Photograph: Brian Farrell

My family finally made our much longed-for move from Dublin to the west of Ireland in August 2012. My eldest daughter Rachael went off to college, our daughter Autumn started junior infants and our son Ethan joined the local pre-school. However, within a few weeks he began doing a strange blinking. I didn’t think much of it, but brought him to the doctor who gave us eye drops. The blinking continued and almost a month later Ethan suddenly started rolling his eyes and clenching his fingers. It was a jerky motion and scary to watch.

I brought him to the GP and he was referred to A&E in Sligo. His eye rolling warranted him being admitted to hospital for four nights and included an ambulance journey to Crumlin for an EEG. After many tests and a clear EEG the threat of epilepsy was ruled out and Ethan was discharged.

The eye rolling got worse and became more regular. Thankfully Ethan didn’t appear too concerned, but it was very hard to watch. Our next appointment with the paediatrician wasn’t for two months and we didn’t know what to do.

In December Ethan got a bad cold/cough and I took him to the GP. She prescribed an antibiotic and for us, it was the magic antibiotic. The eye rolling and tics stopped. We couldn’t believe it. We hoped that was the end of it.

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Unfortunately not. New Year came and the tics returned. A visit to the paediatrician didn’t bring any answers. We were told to ignore it, not to speak to Ethan about it and that “hopefully it was just a transient tic”. I mentioned our magic antibiotic, note was taken and again we were sent away. This continued, another GP trip, another antibiotic and the tics stopped, but returned.

By April the eye roll was back. Other tics could go unnoticed in a three-year-old, but the eye roll couldn’t be disregarded by anyone. Listening to our story some friends mentioned strep (Streptococcus) causing unusual movements. I asked the GP to test Ethan for strep and got the all clear.

The summer was glorious and we spent our days in the sun. Ethan was in good form, showing little signs of tics and we relaxed. In September Ethan returned to preschool and his tics gradually returned. By November they had escalated into the worst we had seen. He began doing a full body bend that was so overpowering we had to accompany him up the stairs in case he fell.

Now aged four, we had to revert to giving him a plastic cup as was unable to control his body movements. The preschool said it was affecting him walking and joining in with activities. But what was worse was with these tics came irrational fears and tears. Ethan became very distressed. He told us he wanted “things to go back to normal” and he needed us to “help make him better”. He felt “itchy all over” and was “afraid”. Ethan had pains in his legs, continually grimaced, clenched his fingers and toes, did a wide-eyed look, licked his hands and chewed his clothes. He was weepy, uncomfortable, irritable and irrational.

During the height of this flare-up I brought him to the GP. I was extremely upset. I asked about sore throats causing movements. The doctor was quite dismissive, but checked Ethan’s throat remarking that it looked a bit “hairy”. He prescribed antibiotics and Ethan’s fears improved drastically, but the tics didn’t completely disappear.

A couple of days later, we received an appointment for Sligo hospital. On a cold December morning, and without much hope, we attended the appointment to find a new paediatrician. She listened to our story, watched videos of Ethan’s movements and asked if we had ever heard of Pandas (Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections). Pandas requires a clinical diagnosis and there is no test to confirm it. A finding of a high strep concentration helps with the diagnosis.

The paediatrician did the blood test which came back positive. Next was the neurologist appointment in Crumlin which we had waited a year for. He concluded that Ethan was “presenting a convincing argument for a Pandas diagnosis”. He recommended treatment with antibiotics and steroids. At last, 15 months on, we had a diagnosis and a treatment plan.

We saw the local paediatrician again last month. So much was riding on this appointment. I could tell that Ethan was heading for another flare up. He still hadn’t received any treatment. While the paediatrician had heard of Pandas, she was only happy to treat it based on advice from the neurologist. Thankfully, she was prepared to prescribe two weeks antibiotics. The flare up came as expected with similar movements but with the help of the antibiotics, we had a happy boy with no fears. Again it didn’t last and the tears started when the antibiotic stopped.

When your child has a rare condition it’s very isolating. You start to doubt yourself. I naively presumed that once we knew what it was, our son could be “fixed”. But Pandas is not a widely understood disorder and there are no official guidelines on how to treat it. Many doctors don’t believe it exists. However, there’s a lot of information out there, doctors are treating this condition successfully with antibiotics and some children have been completely cured. The key is, as with most illnesses, to treat early.

I'd like to raise awareness, to help others who are mystified by their child's sudden onset of tics or OCD. So that it doesn't take 15 months to get a diagnosis, precious time that could be spent finding a treatment. I've already met a few Irish mothers online who have been faced with this condition, all anxiously looking for help.

pandasireland@gmail.com

What is Pandas?

Pandas stands for Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections. When a person has an infection, the antibodies produced in their system fight the infection. In Pandas, however, the antibodies attack the cells in the basal ganglia of the brain, causing abnormal movements and other neuropsychiatric symptoms. Simply put, it’s Rheumatic Fever of the Brain. Pandas appears from age three to puberty. In addition to OCD or tics, children may experience;

Sudden unexplainable rages, involuntary or uncontrollable crying

Personality changes

ADHD

Anorexia, e g fear of choking, fear of throwing-up

Nervous system disorders such as tics

Age inappropriate behaviours, e g bedtime fears/rituals

Separation anxiety

Sensitivity to clothing, noise, light, taste

Noticeable decrease in handwriting or math skill

Frequent urination