After a night of enjoying the holiday with friends it was time to head home. DJ was told to get his shoes on but complained he couldn’t put on his right shoe. Like any other tired 4 year old being difficult is pretty much the norm. The next day he mentioned his leg was bothering him. At his age growing pains are normal so there was not great concern of something being wrong.
July 6th things proved not normal….. DJ was rushed to the emergency room at 2 a.m. His right leg had started jerking uncontrollably. The hospital couldn’t determine a cause. The following day DJ saw his pediatrician and with no symptoms showing up during the visit the doctor could not find a reason for what had happened either.
About a week passed and even though the jerking in his leg seemed to go away you could still see twitching and fluttering in his foot and toes. On July 20th, the night after DJ’s 5th birthday, as he was falling asleep the whole right side of his body began jerking uncontrollably. It was like an epileptic seizure but he was totally conscience, aware, and frightened. He was once again taken to ER but this time they did a CT head scan and it was recommended he have an outpatient EEG followed up with a neurologist.
It was July 28th when DJ had his first EEG at the Children’s Hospital along with blood work. All showed nothing abnormal. On July 31st, with the continued jerking and unable to sleep, DJ started complaining of the pain he was experiencing. Another trip to ER and this time he was given steroids, an antibiotic, and Valium for the pain and to help him sleep. Doctors were suspecting something called Chorea. It is brought on by an untreated Strep infection or possibly Rheumatic Fever, but all DJ’s blood work showed no signs of infections. DJ was referred to his pediatrician for an EKG and ECHO referral as Chorea could damage the valves of his heart. August 3rd the cardiology report came back good, everything was normal with his heart.
On August 4th DJ was admitted for three days to the Children’s Hospital in Aurora to undergo a total work-up which included massive blood tests, urinalysis, a second EEG, an MRI, and a Spinal Tap. All medications previously prescribed, with the exception of Valium, were discontinued and he was started on anti-seizure medications.
DJ wasn’t your typical little 5 year old boy anymore. He couldn’t run and play with his friends, roller skate, or ride his bike. He was due to start Kindergarten on August 19th but since his release from the hospital the frequency as well as intensity of his muscle seizures increased. Doctor’s were working hard for a diagnosis. Results were indicating EPC (Epilepsia Partialis Continua).
When the first day of Kindergarten started, DJ was there. He only made it about 30 minutes with Mommy at his side. During the short period of time he experienced four episodes. He wanted to go the second day but the muscle seizures sent him home within an hour and a half. By Monday, August 23, with seizures more intense, his mobility had decreased greatly. It was that day the call came from the doctor….. as far as a diagnosis they were leaning toward Rasmussen Syndrome.
Rasmussen syndrome: A brain disorder caused by inflammation of brain cells in one hemisphere. Its cause is unknown. Rasmussen syndrome causes seizures often difficult or impossible to control with medication, and eventually results in brain shrinkage (atrophy). Treatment is with surgery, if possible. The inflammation seems to stop of its own accord eventually, but the damage done is irreversible.
It is also called Rasmussen encephalitis. There are frequent and severe seizures (convulsions), progressive loss of motor skills and speech, hemiparesis (paralysis on one side of the body), encephalitis (inflammation of the brain), dementia, and mental deterioration. The disorder affects a single brain hemisphere (one side or the other of the brain but not both sides) and generally occurs in children under the age of 15.
The standard treatment for Rasmussen's encephalitis is surgery to remove or disconnect the affected part of the brain (hemispherectomy). Anti-epileptic drugs are usually not effective in the long run in controlling the seizures. Alternative treatments may include plasmapheresis (the removal and reinfusion of blood plasma), ketogenic diet (high fat, low carbohydrate), and steroids (cortisone-like drugs).
The prognosis varies. Untreated, the disorder may lead to severe neurological deficits including mental retardation and paralysis. In some patients the surgery decreases the seizures. However, most patients are left with some paralysis and speech deficits.
Rasmussen's encephalitis is believed due to a number of causes. In some cases there is an abnormal immune attack against what is called the glutamate receptor GluR3. Antibodies directed against GluR3 have been identified in patients. (Reference: Rogers et al.: Autoantibodies to glutamate receptor GluR3 in Rasmussen's encephalitis. Science 265: 648-651, 1994.) Plasmapheresis (skimming off the blood plasma) has been tried (to remove the GluR3) but the improvement was short-lived.
A PET scan and Testicular Ultrasound were scheduled for August 25th. Now, with the possibility of Rasmussen Syndrome, the doctor also scheduled DJ to undergo IVIG (Immune Globulin – Intravenous) for 8 hours August 26th and again on August 27th. He was able to do this on an outpatient basis in the Infusion Center at the Children’s Hospital in Aurora. The treatments, at this time, seem to have done some good. DJ’s right arm has not seized since the first treatment and as of this writing, after the second treatment, his leg seizures have also slowed some, both in frequency and intensity.
IVIG however wasn’t a total solution or cure. Results of the PET scan came in, and even with the positive outlook from the treatment there were concerns about what was next. With the PET scan showing abnormalities the original MRI was re-read. DJ was scheduled for his second MRI and a fourth EEG. The MRI was done on Monday, August 30 and his overnight stay at the hospital for the EEG, September 1st. His MRI results showed more shrinkage on the left side of his brain which confirms the Rasmussen Syndrome diagnosis. DJ will soon be scheduled for a hemispherectomy.
The hemispherectomy will remove the part of DJ’s brain affected with Rasmussen. It is unknown, until a detailed evaluation by the neurosurgeons is complete, if a portion or the entire left side of DJ’s brain will need to be removed. Surgery is the only way to totally arrest Rasmussen Syndrome. The thought of such an invasive surgery is scary but case studies show the younger the patient the more plasticity in the brain for the remaining side to take over and start gaining back the skills lost from the portion removed. Time is of the essence. His motor function on the right side, at this point, has been the only thing affected by the seizures.
After the surgery DJ is looking at an extended stay in the Children’s Hospital for his recovery. He will undergo extensive physical, speech, and occupational therapy. With hope and faith he will soon be back to the energetic, happy, social little guy he was before Rasmussen’s interrupted his life.