A tearful mother has revealed how her baby will never walk or talk because of a brain disease that affects just 30 people in the world.
Lucy Landman, now one, has been diagnosed with Mabry Syndrome, a genetic condition that leaves her struggling to walk or talk and with intellectual disability.
It is caused by ‘anchor’ proteins failing to form properly, which are essential for effective communication between cells and neurons.
Parents Geri and Zachary, who live in Lafayette, California, said they were ‘terrified’ when they got the diagnosis because there is no cure for the condition.
But they are now fundraising for $2.5million to develop one for the first time.
Mabry Syndrome is caused when someone inherits two faulty copies of the PGAP3 gene, one from each parent.
It is caused by a protein not forming correctly on the surface of cells which is used by other proteins to bind to their surface.
This disrupts the function of proteins involved in moving substances into cells and, in neurons, those allowing messages to travel down a neuron — leading to problems with movement.
There is no treatment available for the condition, but Lucy’s parents believe they can ‘cure’ it using gene therapy to give her a functional copy of the PGAP3 gene.
Ms Landman first became concerned about her daughter when she was just two weeks old and constantly slept and wouldn’t wake for feeding.
Her concerns only grew when Lucy appeared to catch a viral infection and her development started ‘falling off a cliff’.
‘Lucy got some sort of virus, just a mild cold or stomach bug and she just started falling off a cliff,’ she said in a video while she tried to hold back tears.
‘Where she could previously sit for 15 minutes, she was flopping to the side, she stopped making eye contact, she stopped babbling as much, she refused to take solid foods anymore
Most patients with Mabry die as children, with the oldest recorded having reached the age of 23 years.
The Rare Diseases Clinical Research Network said only 30 cases have been confirmed in history.
Mother Geri said: ‘I came home from work, I head Lucy, I gave her a bath and I tried to make the minutes pass faster.
‘When we went to the ER, the doctor told us while we held Lucy in our lap that she would probably have severe intellectual disability, that she might never walk, that she is likely to develop… seizures and that she will never talk and that we will never hear her say mama or her sisters’ names.’
