Her MRI revealed that she most likely had some form of leukodystropy, or white matter brain disease, but a definitive diagnosis was not reached. After 5 days in the hospital with no further seizure activity Elise was released from the hospital. Blood tests would take weeks to get back and she would follow up as an outpatient.
Elise did well for a few weeks, then she experienced a long seizure and was brought back to Loyola and again admitted to the PICU. Another EEG and MRI were performed. The decision was made two days later to transfer Elise to Lurie Children's Hospital in Chicago- one of the top children's hospitals in the midwest. Her MRI's were reviewed there and another EEG was performed.
After careful review of her symptoms, along with the EEG and MRI results, the pediatric neurologist was able to make a diagnosis with a high degree of certainty. He believed our precious daughter had Alexander Disease. That diagnosis was later confirmed through genetic testing.
Alexander Disease, or fibrinoid leukodystrophy, is an extremely rare genetic disease in which a spontaneous (meaning non-inherited) gene mutation occurs. The result of this gene mutation is a build up of proteins in the brain and destruction of white matter. Only around 500 cases of Alexander Disease have been reported since it was first discovered and the prognosis is extremely poor.
Elise was discharged home and we have been following up with her doctors at Lurie. Her treatments have been purely supportive and we have tried to manage her symptoms as they've arisen. There are no known cures or treatments that will halt the progress of this disease.
We have witnessed a steady decline in Elise since her diagnosis. She has lost the ability to eat and had a feeding tube inserted in October. Her seizures were at one time very numerous, but they are currently well managed with the medication regime she is now on. She cannot clear her secretions and requires suctioning, breathing treatments, and oxygen. In December, Elise was transitioned into Hospice care. Elise no longer cries, laughs, or is able to communicate with the outside world, yet we still have a strong connection with her and feel that she is aware of us and can sense our love. She has no head control and cannot grasp objects or roll over, let alone sit or stand.
With a lot of support from our families and friends, we, along with Elise's big sisters Stephanie and Sydney, are somehow managing to deal with such a difficult situation. We want to thank everyone for their love and support- without your help we would never be able to get through this.
- Paul & Jenny Lorinser
- Betty Miller
- Stephanie Driscoll
- Cummings Family
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