We are Daniele, Sarah, Camilla, who is 5 years old, and Alyssia, who is almost 4 years old. She has been diagnosed with the gene COL4A1 mutation when she was 2 years old.
Pregnancy was regular, with the usual nauseas in the first months, the ultrasounds were normal and by the 39th week, with a natural childbirth, Alyssia was born, with her giant blue eyes!
By the 5th month after birth, we started to notice that something was not alright.
We also noticed that from time to time the baby was “absent”, that she was behind the children of her age, and that her left hand wouldn’t cooperate with her at all!
We talked with the paediatrician and she sent us to make Alyssia have her first neurological examination. From the visit doctors noticed right away that Alyssia has a paresis on the left side, she did an EEG which underlined the fact that there was actually something abnormal!
When she was 7 months old it was organized the first hospitalization to go deeper into understanding the situation, and she did her first brain MRI: it has been discovered that she had had a stroke! From then on, she did other exams, like tests for genetic investigations. We came back home with a therapy to manage the epileptic “absence” seizures, and within a couple months she started the physiotherapy: the sooner the better!
September 2020: she started to take her first steps, she had difficulties because her left little leg wouldn’t cooperate so much, so the best choice was a leg brace that helps her and will avoid future problems.
In December 2020 the results of the genetic investigation arrived: COL4A1 (de novo)! We were lost, there is no cure, there is no protocol, we’ve been told that this rare desease has to be monitored by periodical controls and that we had to go on with the physiotherapy.
In September 2021 Alyssia started her speech therapy and also started to go to kindergarten. Surely getting used to this “new world” was not an easy task, but, thanks to her wonderful teachers and classmates, in about a month of integration Alyssia was very happy to go to kindergarten, maybe even happier than her sister Camilla.
Nowadays luckily her seizures are more or less under control, we pay attention to the fever which is her nemesis!
Now Alyssia has started her second year of kindergarten, she is a bright child who loves, or rather wants, to be outside, she loves racing cars (like her dad), but she also likes to play tag with Camilla!
We hope medical research will help understanding the mechanisms of this disease and that a cure will be found soon, for Alyssia and for all the children who like her have the mutation of COL4A1/A2 gene.
On the meantime we are very proud of every big step forward that Alyssia has done, of how she respond to rehabilitation, and especially of the joy she brings to the family…and we hope to continue this way!