Jayden’s Story – A Parent’s Worst Nightmare, Toronto, Ontario
By Cheryl Liuzza
It was late September 2009 and we had just finished celebrating our daughter’s 3rd birthday with a party at Chuck E Cheese when our lives took a turn that changed everything. Jayden had always been very healthy, never suffering from much more than the odd cold now and again. Suddenly, she began to walk “funny”. She’d pick up her left leg to take a step, kick it out to the side and then move it forward, not knowing where to put it to step forward. At first we thought she had injured herself somehow so I took her to the doctor. He couldn’t figure it out, since she wasn’t complaining of any pain. He sent her for x-rays & told us to take her to emergency if she got worse over the weekend. She had come home from daycare 1 ½ weeks earlier with a low-grade fever and a headache but woke up feeling fine the next day. We never connected this to the “funny” walk.
That weekend, Jayden seemed to be getting worse so we took her to the Emergency room at Credit Valley Hospital, in Mississauga, Ontario. The doctor we saw was about to send us home, when he had a hunch and asked us to wait to see the pediatrician on call. When the pediatrician came to see Jayden, he confirmed our worst fears that something could be terribly wrong with our daughter. He sent us down to The Hospital for Sick Children (Sick Kids) in Toronto so Jayden could have a brain MRI. He suspected that a brain tumor was causing her “ataxic gait” (funny walk). This began a 5 week roller coaster ride to determine what was wrong with our daughter. It was October 3, 2009.
Jayden had her MRI and we received good news; she did not have a brain tumor. The doctors conducted a few other tests but everything was normal. While we were there, her walk got better so after a few days, we were sent home. The doctors felt that a virus was probably causing the funny walk and scheduled her for a follow up appointment in the Neurology clinic the following week. They said there were more tests that could be done, but they were very invasive and would like to wait to see if she continued to progress. They mentioned that many children experience situations where a virus causes odd neurological symptoms that suddenly go away with no further complications.
Jayden went back to daycare the following Thursday and everything seemed ok, at first. Her daycare provider noticed that she was suddenly very sensitive to light and although her walk had improved, she really did not want to walk very far. That weekend, Jayden’s temperament seemed to change. She began crying a lot for no apparent reason and her walk seemed to get worse. We took her back to Sick Kids Emergency only to be sent home after seeing the Neurologist on call. They told us to continue to monitor her until her clinic appointment the following Wednesday. Since Jayden did not get any better, she was re-admitted when we returned to the clinic the following week.
Jayden spent the next week and a half at Sick Kids. During this time, we continued to watch her condition decline. Her walk continued to get worse until she stopped walking altogether. Her legs began to twitch; a symptom called chorea. This twitching eventually moved up her body from her legs to her arms and into her face. Our 3-year-old girl who spoke more than most 5 year olds began to only tell the same story over and over again. She also began to suffer from episodes that we thought were night terrors. She would fall asleep for 10 minutes then wake up screaming, holding her head and rolling all over. She would fall out of bed regularly. She would lash out at her father and me, hitting, biting and throwing toys at us. It wasn’t until she was diagnosed, that we discovered she was probably hallucinating and suffering psychosis-like symptoms.
We were watching our little girl deteriorate before our eyes and could do absolutely nothing about it. No one could figure out what was causing Jayden’s strange behaviour and symptoms. The doctors performed many tests including, multiple MRI’s, Evoked Potentials, EEG’s, an ECG, Ultrasounds and a Lumbar Puncture. Everything was normal except the EEG, which showed some slowing on the right side of her brain and the lumbar puncture, which showed 13 white blood cells in her spinal fluid. Still the doctors could tell us nothing except it was a virus causing inflammation in her brain. The Neurologists had Rheumatology, Metabolics and Infectious Disease all trying to figure out what was wrong with Jayden. They would not treat her until they knew exactly what was causing it. We were sent home again.
Three days later, we had an appointment at our Pediatrician. By this point, Jayden had stopped eating, talking and walking and her “episodes” were getting more dramatic and frequent. Our pediatrician immediately called Sick Kids and sent us back encouraging us to not give up until they figured out what was wrong with our little girl. We were admitted again and Jayden was given a feeding tube in her nose so she could get nutrition. It would be 5 ½ months before she ate again.
They repeated the lumbar puncture, which now showed 9 white blood cells in her spinal fluid. Again, all they could tell us was that it was some type of infection causing the inflammation. We had to wait for the spinal fluid to be sent to the only place in North America that could analyze it before we could get any answers. This could take months. Time we did not have. Jayden continued to get worse. Now she was continuously drooling.
It was the 1st week of November, our 5th week at Sick Kids when a different Rheumatologist, Dr Susanne Benseler, walked into our room and told us that Jayden’s symptoms looked very similar to something a colleague of hers was studying at the University of Pennsylvania. She wanted to send him some of her spinal fluid for analysis. It was a long shot but we were willing to try anything to figure out what was happening to Jayden. We signed papers donating Jayden’s spinal fluid to Dr Dalmau’s research in Pennsylvania on Tuesday and had our diagnosis on Friday. While waiting for the results, Jayden took another turn for the worse and began suffering seizures. During one of her seizures, she put her index finger in her mouth and bit down so hard, we were afraid she was going to bite it off.
On Friday, November 6, 2009 we received Jayden’s diagnosis of anti-NMDAR encephalitis, an auto-immune form of encephalitis caused by an overactive immune system. The doctors believe that Jayden’s immune system had fought off a cold and continued working after. This caused her body to produce too many antibodies that resulted in her body attacking her brain. At this point, she was just a shell, lying in bed. We wondered if she even knew we were there. Her treatment began immediately. Two doses of Rituximab, an IV cancer treatment that would kill all of her b-cells and destroy the antibodies. She would also receive 9 monthly treatments of IVIG, an IV blood product that would help boost her recovery. She also received a high dose IV course of steroids to help reduce the inflammation in her brain.
At the end of November, after 2 months at Sick Kids, Jayden was transferred to Holland Bloorview Kids Rehab in Toronto to receive intensive physio, occupational and speech therapy. We spent the next 5 months there. It was like watching a baby learn how to do everything. In December she began to hold up her head and sit up again. In January, the chorea movements slowed and she began to walk again. She also had a g-tube inserted in her stomach for feeding in January. In February and March she continued to progress with her fine and gross motor skills, the drooling stopped & we began to hear sounds coming from her throat.
April 2010 was a major turning point for Jayden. After months of trying to get her to eat pureed baby food, with no interest, on Easter Sunday, she climbed up to the kitchen table, picked up a chip and put it in her mouth. It was as if a switch turned on in her brain, reminding her how to eat again. On April 30th, she was discharged from Bloorview and her g-tube was removed.
She left Bloorview only saying 2 words and by the end of May 2010, she was back to her chatty self. To look at her at this point, you would have never known that she was sick unless you saw the scar on her arm from her PICC line or the scar on her belly from the g-tube. On July 8, 2010 she received her final IVIG treatment. She continued to receive follow up physio and occupational therapy at Erin Oak Kids in Mississauga and in September 2010 she began junior kindergarten with her friends.
Jayden went for another EEG on September 7, 2010. It still showed some slowing in her brain. Her Neurologist didn’t seem too concerned since she had progressed so much in the previous 10 months. He repeated that it is a long and slow recovery from this terrible disease. She remained on the anti-seizure medicine (Valproic Acid) as the slowing does mean a higher risk of seizures. In October 2010, Jayden had her follow up clinic appointment with Dr. Benseler in Rheumatology. After reading the EEG in full detail, Dr. Benseler told us her EEG was normal for a child her age.
Dr. Benseler worked with us to convince the Neurologists to taper her from the Valproic Acid. We were concerned that it was causing attention problems, making it difficult for her to move forward in her recovery. They sent her for another EEG in March 2011. The results were normal so Jayden began tapering from the medicine. On June 23, 2011, she became medication free! She continued to receive physio and occupational therapy group sessions at a facility close to home. Her therapists say she is much like many children her age. If she had not gone through anti-NMDAR encephalitis, they probably wouldn’t treat her.
On April 30, 2011, we celebrated 1 year since Jayden was discharged from Holland Bloorview. Although we will never forget the terrible nightmare that Jayden lived through and the fear of relapse will always be in the back of our minds, we will only look forward from here. To celebrate this special anniversary, we took her on a trip to Walt Disney World so she could meet all of her favorite princesses.
Fall 2011 marked 2 years since Jayden’s anti-NMDAR journey began. Although the terrible ordeal she experienced will always remain on our minds, we continued to only look forward. She began Senior Kindergarten and continued with occupational therapy at Erin Oak. She started gymnastics to help her build her physical confidence that seemed to have diminished during her illness and recovery. The main residual effect that seemed to linger at this point was her short-term memory but over time, this seems to have subsided as well.
On October 4, 2011, Jayden had her Neurology clinic appointment. At this appointment, the doctors were very impressed with her progress. So impressed that we were told, “The Hospital for Sick Kids Neurology Department does not follow healthy children.” Jayden was discharged from Neurology. They advised us that they would send her for a neuro-psych evaluation when she is 6 but she does not need to return to the Neurology clinic.
She continues to be followed by Rheumatology, which makes us feel good. If it wasn’t for Dr. Benseler, she may have never been diagnosed. We still have lingering fears of a relapse and feel much better knowing that she will continue to keep an eye on her.
Almost 3 years after this all began; Jayden still visits Dr. Benseler 3 times a year. She is sent for annual ultrasounds to check for teratomas. She also continues to receive occupational therapy to assist with her pre-printing skills. We hope the nightmare is behind us but continue to watch her carefully to ensure her condition does not relapse. If all the antibodies were not destroyed, this is a possibility. Fortunately, if she does relapse, the doctors will know what is causing it so her symptoms will not progress as far as they did 3 years ago. Dr. Benseler has assured us that the longer Jayden goes without a relapse, the less chance there is that she will ever have one.
My husband and I feel that if it wasn’t for Dr. Susanne Benseler, we may not have our little girl with us anymore. She recognized a very rare disease and was not afraid to push to get a diagnosis. We only wish we had met her the 1st week we were at Sick Kids. We’ve been told that Jayden was diagnosed relatively quickly but can’t erase the time we watched her slip away from us and then slowly recover.
We’ve committed to do anything we can to ensure no other child goes through what Jayden did. We tell her story to anyone who will listen to get the word out about this rare and often-misdiagnosed disease. We also make ourselves available to anyone who reaches out to us as they or a loved one are suffering through anti-NMDAR. Since Jayden was one of the first children diagnosed at Sick Kids, we had no one to reach out to who could talk to us about what to expect. We want to be there for anyone we can so they are not alone through this.
We have also learned not to take our family for granted. Through Jayden’s diagnosis and treatment, many people stood beside us every day. We were lucky enough to have the support of many family and close friends who helped us make it through each day.
Jayden is a very special girl who we could have lost in 2009. We will never take any moment with her for granted. In September 2013, she begins grade 2. If we look back 4 years ago, we never would have thought she would make it to grade 1 but our little miracle girl made it through and will only move forward from here.