Share your Rare: Alice's Story
Written by Alice, Alexík’s rare mom from the Czech Republic
A sudden medical emergency
Alexík was born a healthy child and had no health complaints until he was five and a half years old. He had a tick infection at the age of three, but, even after this, there were no signs of a serious illness. In November of 2018, the flu came, and, despite a timely treatment, the virus got where it shouldn't have. A brain inflammation occurred and, consequently, an epileptic seizure took place. As this seizure was a grand mal lasting more than an hour, Alexík had to be put into a medically induced sleep.
The next day, the medical staff wanted to wake him up, but another strong grand mal followed. Alexík was in a sleep–induced coma for more than a month, fighting. Then, the medics managed to put him in a light sleep; however, the risk of a tracheostomy was high because Alexík couldn't breathe. During his coma, he developed pneumonia, which happens with lung ventilation. As Alexík fought for breath, the seizures caused irreversible brain damage.
After waking up, Alexík had to re-learn everything, from swallowing to communicating. He was like a big baby. Afterward, different diagnoses started coming. At first, the doctors thought it was acute disseminated encephalomyelitis (ADEM); however, later on, this was re-evaluated. Alexík was fighting, getting better, and everything seemed to be on the right track. Nevertheless, his deterioration manifested in the summer of 2019.
Living with three rare diseases
The doctors spoke about a neurodegenerative disease. Alexík's state of health was like a rollercoaster: he was a bedridden patient who, at times, would show some signs of improvement. He would take three steps forward, and then suddenly two or four steps back. Doctors searched for the cause and found it.
Initially, through a muscle biopsy of his leg, Alexík was diagnosed with a deficiency of mitochondrial respiratory chain complex IV. In the autumn of 2021, he was also diagnosed with Snijders Blok-Campeau syndrome (caused by mutations in the CHD3 gene) and leukoencephalopathy (caused by mutation of OPA1 and DOA genes). These diagnoses were all in the mitochondria and not inherited.
“The whole family and I fight together with him for better days.”
Alexík struggles with three rare diseases, epilepsy, severe behavioral disorders, and other associated diagnoses; he does not walk, he does not speak well, and, at the age of 9, he has the psychomotor skills of a preschooler. However, he is a great fighter. The whole family and I fight together with him for better days. The forecasts are dire, but I ignore them.
The challenges of being a mother and caregiver
At home, I do everything by myself, helping Alexík with his learning, his rehabilitation, etc. Because of all his diagnoses, he needs to be supervised at all times: he doesn't cooperate well, has an irregular circadian cycle - sleeps irregularly, needs 24/7 care, doesn't eat on his own, and has just started drinking through a straw.
Any infection is a big risk for Alexík, so we try to protect him. Alexík is very dependent on me - his mother. Without my presence, he becomes unmanageable, depressed, aggressive, and anxious, and experiences seizures...It is not easy, but I believe that Alexík will manage it and one day he will achieve some independence.
Alexík is so far the only one in the Czech Republic with Snijder's Block Campeau syndrome; there are a few other patients (mostly adults) living with the mutation of DOA and OPA1; I could not find any information on the respiratory chain complex IV deficiency.
Connect with Alice!
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