Patient Stories

SAVANNAH'S STORY Medicine Hat, Alberta

 My journey started on October 29, 2012. My daughter Savannah was in and out of Medicine.Hat Regional Hospital 3 weeks prior to that day, suffering with fainting and headaches. They said that nothing was wrong with her. Told me I’m the one that`s making a mountain out of a mole hill. Oct 29, 12:37am- Savii came in my room. I thought she was sleep walking, put her back to bed, and 5 minutes later she had a grand mal seizure, which lasted about a hour. Now they put her in an induced coma. The same morning in Alberta Children’s Hospital Calgary. My nightmare worsens. They released her on the 31 October - Halloween. We knew it still wasn’t right. Went home to the Hat. Back in hospital same night, but worse. Told me she was going crazy. Lost my mind. They put her on 5 North( Psych unit). 11 days of hell. Feeding her so many anti-psychotic meds, she didn`t need. On the 11th day, went in her room and lost it.

Malnourished, de-hydrated. In ICU 11 days later they get her to ACH in Calgary. Cause I flipped out. 3 DAYS it took them to flush out all psych. meds, then deal with the problem. Learned we have no rights to our kids. 2 weeks later, started treatment. Watching your child go through this, is hell. Strapped to a bed - chest arms and legs. Having male security there stalking my child. I fought that. Big time. Creepers. Remember she is 16. They did 7 MRI`s, lost count on spinal taps. She had No TUMOR. Makes it worse. Plasmapherises, Steroids. Can’t even imagine. I.V.I.G.. lost all motor skills. Strapped to her bed for 5 months. That almost killed us. She came home 23rd of April.2013. Best day ever. Every story is different. Savannah is recovering well. A lot of praying. Wanted to give a little bit about our story. Hope it helps someone. Please, if I can help in any way possible to anyone I will do so. Always remember there is hope. Don’t give up. Fight for what you believe in.

MY 5 YEAR OLD DAUGHTERS CASE OF ANTI NMDA Ottawa, Ontario

By Arani Marquez Montufar on Monday, June 20, 2011 at 6:46pm

Everything began end of March 2011 when she complained about a tingling on her right foot. After a week she began to lose her balance and her toes were moving. That Sunday we decided to bring her to emergency to our local children`s hospital. After doing some testing, they told us she was going to be admitted for a few days to have an MRI and some other tests. My heart sank, they said not to worry that probably it was Sydenham Chorea, a rare illness but treatable and it would go away in a few months. How wrong they were.

After many blood, MRI, EEG, Electrocardiogram, Strep tests and many others, they have found no traces of strep which is one of the confirmations for that disease, still they kept the diagnoses and she was discharged 5 days later with a dose of Penicillin daily, Valproic Acid for the movements. That weekend was terrible. She seemed very sleepy during the day, but she could not sleep at all at night; actually this started at the hospital but at home it got worse. She could not walk any longer, the movements were awful, she was upset at all times and she had laughing over the top episodes, when the angry ones came, she was very confused and she was saying that me or her dad wanted to hurt her and to stop doing it, she bit us and she was very aggressive, kicking and hitting, she had some odd behaviors like obsessive, pulling down the bottom of her pants and up her socks over and over she did not want to show any skin on her legs.

Next morning we decided to go back to emergency, she was admitted again, they removed the Valproic Acid since they thought it was not helping and put her on 35mg of prednisone, and 2 ml of clonazepan, another neuro doctor came into the picture and put her on Haldol. She was already very agitated and had several angry, biting throwing things, kicking, pulling her hair out and hitting episodes throughout the day and night, she had not sleep at all already three weeks by then. After they started the Haldol, she had drooling, non-responsive, gone kind of spells, they seem like seizure to me without the movements, they would last from 5 to 30 seconds. They increased the Haldol and Clonazepan, they became worse and another neurologist came into the picture, she suspected another autoimmune disease, she wanted to send blood and serum to Calgary and ask for a spinal tap, another MRI and an EGG, she removed Haldol, the weird gone drooling spells disappeared, the movements got somehow better and she began to walk again, slowly she was eating less and less, until to me she look like anorexic, all her clothing was way to big on her.

At one point she began eating again more than ever, I guess Prednisone, she became restless, real anxious she just wanted to walk over and over, go to the hospital book library, bring a pile of books and come back for more, she would just repeat after us, the anger episodes seemed less and less until they were just a couple a day but long in duration.

Little by little she had less severe anger episodes, she would take something to bite instead of biting us, she started to show some kind of remorse if she bit us, at this point a month already at hospital, she was discharged with an IVIG treatment before leaving the hospital May 3 2011. I gave birth the same night my second baby girl 3 weeks before time, guess due to the stress. May 15 she had an appt. with her neurologist, and she booked her for 6 more IvIG treatments, results were back finally and she was confirmed she has Anti-NMDA Receptor Encephalitis, so it took about 6 weeks to be finally diagnosed although she was treated since week second with prednisone and first IVIG 4th week, I do think it make a big difference on her case.

Little by little we would see improvements on Arianne, her movements were more dystonic, than choreatic she would have lots of facial tics, and still wanted to bite but she was more in control of it, she started chewing gum instead, she was still repeating after us, she seemed most of times in her little world, and would talk like singing with long syllables and very nasal sound.

Day after day, she became more aware of things, she would respond a bit more and she started to interact a little bit, her tics and movements were less and less bad, she was screaming at one point for a few days, then after this she would answer to questions and to say a few words without repeating after us. On the next two weeks she had friends over, she reacted amazing, she played, she was laughing and really happy, she was interacting more and more, and day by day she would show some improvement. At one point we could even see our little one almost back ton how she was before all of this for a few minutes. As of today, June 20 she had another MRI for scanning her belly. No tumors were found as I expected. She has done 7 IVIG so far; the last two she got rashes on all her body.

Her mood changes and is over the top mostly when she is upset which is quiet often these past 3 days - hard to know when she was doing great if is due the meds or the illness. So far no more improvement although she is back to school (jardin) 3 hours only, don't want to over- tire her, still lots of movements at nighttime. Some nights are better than others, nightmares came back, although not as bad as before, language is not completely like it used to be, sometime she speaks like a girl lots younger than her and behaves like it as well, and sometimes she seems more mature than even before the illness, do not know what to make of it.We hope she does not relapse, we have to wait for her doctor to come back since she is traveling next Monday to know what is next. Praying every day for her and others.

Update June 27:Last IVIg treatment, 12pm now still at hospital, we hope she gets no reaction. Started to lower prednisone from 20mg, 5 mg every week till she is off, clonazepan from 1ml mornings and 2 at night starting tonight 1ml and 1ml. We will follow up in a couple of weeks. She had a good week, we hope she will continue doing well.

Update July 21: Nearly a month after they are removing Steroids. Many things have returned that have had almost disappeared or were missing like facial tics, body movements are more pronounced now noticeable during the day, headaches, trouble sleeping some nights, pain in feet and stomach. I pray every day.

Update Tuesday July 26: We have follow up appt. with neuro. They are now talking about a new drug called Cellcept for 12 months; it is a suppressor of the immune system, we do not like side effects, but it is to put things on a balance or the possibility of a relapse, we have an appointment with a rheumatologist till August 18 whom is supposed to tell us about the drug, I think personally is very far away, since the drug itself takes 2-3 months to have any effect, according to neuro dr. she has a window of 2 to 3 months and it has been six weeks already. We'll see.

Update August 24: my dear Arianne is free of all medications except for clonazepam 1ml in the evening. We decided together with her neurologist and rheumatologist not to give her the Cellcept. They will ask Dr. Dalmau who was the the doctor who discovered the disease and treated more cases than any other doctor. Now everything is fine except she still has movements at night and sometimes cannot sleep well, try to give melatonin to see if it helps her to sleep. In general during the day except when she gets angry a little easier especially when tired, it seems almost like she was before. I keep praying and I am grateful for my beautiful daughters.

Update: March 6 2012: We gave her the melatonin, it works wonders with her sleep. I did remove it a month ago, as she was about 6 months on it, she does not have problems falling asleep now. In November 2011 we ran to emergency as we thought she was relapsing. Movements got worse, tics came back during the daytime and she had a very angry and agitated episode. They gave her a couple more treatments of IVig, reaction was good overall, but she got severe headaches and vomit after 24 hours for a couple of days, the second time I kept her as hydrated as possible before and after it seemed to diminish her headaches and nausea. As of today she has been over 6 months on Cellcept, we have not seen many improvements. If there have been any, they are very little, she still presents movements at night time, jumping muscles, her arms and legs fly sometimes or they jump, her feet flip, and her head moves a bit. She has some calm periods, at least she does not wake up almost ever, so that is an improvement, she has all kinds of tics during day time and the last we just receive her neuropsychological test results and she has executive function problems, which means she cannot organize, planify or comprehend many things, emotionally means sometimes she can't relate to people, feel or care, this problems as the neuropsychologist put it explains a lot of her up and down behaviors.

We will see how she can be helped at school because she basically needs one on one help and probably a tutor later on. If it will be reversible, is too soon to know yet, we do hope and keep praying. My new task is to learn as much as I can of this function and to learn strategies and all I can to help her to develop new ways to cope with this. Overall she is here, she plays, she sings, she is happy she can function at least for now at school for a first grader and basically all her other functions tests, including memory were average which it means she is like anyone else in most things and considering what she has gone through this is remarkable.

March 26 she will have another appointment with neurology at hospital to check her progress and to talk about our concerns, her blood was sent to Calgary another lab in Canada that now test for anti NMDAR a month and a half ago and came back clean, first time had high levels, we know it is no confirmation that it is gone, but we will not put her through a spinal tap unless necessary.She will probably have to go through an MRI and ultrasounds in a few months since it would be a year since last ones to keep scanning for Teratoma tumours. I will keep updating on her condition, and recovery whenever we have new info. I hope her story helps someone.

Update January 2014: Getting close to 3 years since onset.She took Cellcept for 2 years, it was removed, September 2013, with no signs of relapse so far. She is off all meds and her learning at school improved wonders that she is considered now an average kid. I could notice she is not as agile as she used to be before she got ill and she still needs time to process some information, she needs at least 9 hours of sleep, if not she becomes very upset as any normal kid her age with lack of sleep I guess. She becomes anxious with high emotions. Tics never went away. Her neurologist consider it might not have anything to do with the NMDA, she was diagnosed with Tourettes syndrome this past November 2013.

Overall she is doing fantastic. Some stomach issues we hope nothing to do with all meds she took, she has been seen by a gastro specialist and they will perform an endoscopy of her upper and lower intestines soon. It will be interesting to see what they find inside, although nerve racking she has to be put to sleep. Prayers and Blessings to all.

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 old 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 behavior 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.