A mother has revealed how her baby will never walk or talk because of a brain disease that affects only 30 people in the world.
Lucy Landman, now one, has been diagnosed with Mabry syndrome, a genetic condition that causes her development to “fall off a cliff.”
It is caused by ‘anchor’ proteins not forming properly, which are essential for effective communication between cells and neurons.
The genetic condition allows her to permanently have the intellectual ability of a baby. Parents Geri and Zachary, who live in Lafayette, California, said they were “terrified” when they were diagnosed because there is no cure for the condition. But they are now raising money for $2.5 million to develop one for the first time.
Lucy Landman, now one, from California, has a genetic condition that leaves her with difficulty walking, talking, and intellectual disability. Her parents fight to develop a cure
Lucy’s parents Geri and Zachary are now competing to raise money to develop a treatment for their daughter’s condition. They are pictured above with older sisters Audrey, 8, and Edna, 6
When Lucy’s mother started to worry, her child had to undergo many tests in the hospital. These include an MRI and a test of her nerves, pictured
Mabry syndrome is caused when someone inherits two defective 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, the proteins that allow messages to travel through 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.
Most patients with Mabry die in childhood, with the oldest on record reaching the age of 23. The Rare Diseases Clinical Research Network said only 30 cases have been confirmed in history.
Ms Landman, who works as a paediatrician, said: ‘We were in denial at first, when we looked at Lucy and couldn’t believe she was going to be physically and cognitively disabled.
‘[When I received the text from her pediatrician]I was terrified.
“The neurologist didn’t say she wanted to start an intervention, so I thought she might be worried about a diagnosis with no cure or treatment—and I was right.”
Mrs. Landman first became concerned about her daughter when she was just two weeks old, sleeping constantly and not waking up to eat.
Her concerns only increased when Lucy appeared to be contracting a viral infection and her development began to “fall off a cliff.”
“Lucy got some kind of virus, just a mild cold or stomach flu and she just started falling off a cliff,” she said in a video as she tried to hold back tears.
“Where she used to be able to sit for 15 minutes, she slumped onto her side, she stopped making eye contact, she stopped babbling, she refused to eat solid food.”
When Lucy was about 18 weeks old, her parents took her to the hospital for an examination.
Doctors performed an MRI, nerve test and epidural in March 2022, with all results returning to normal.
But then doctors ordered a genetic blood test.
A day later, their pediatrician called and said the results of the test were concerning and asked them to come in an hour.
Mother Geri said, “I came home from work, I supervise 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, holding Lucy on her lap, that she would probably have a severe intellectual disability, that she might never walk, that she would probably have seizures, and that she never will. to talk. and that we’ll never hear her say Mommy’s or her sister’s names.”
According to her parents, Lucy currently crawls awkwardly and can also stand. She follows a ketogenic diet to help calm her symptoms
Pictured above is the baby preparing to stand. Her parents have shared footage of their daughter trying to get up over and over again
Pictured above, Lucy has managed to get up. She was diagnosed with the genetic condition after a blood test
The parents went home that evening and read every scientific paper on the condition they could find, even though they both had medical backgrounds. Zachary is a doctor.
They also emailed the scientists behind each article as they scoured the internet for a possible treatment.
It was then that they decided to raise money for a potential gene therapy for the condition that could give their daughter a functional PGAP3 gene.
Development is already underway, with Lucy donating stem cells in May 2022, which are grown in the lab.
These are developed into neurons, which will be studied to learn more about how the disease works. They will also be used to test gene therapies.
Doctors have chosen to use neurons because they are cells affected by the condition.
They are raising money under their organization Moonshot for Unicorns and have so far raised $450,000 of the $2.5 million they need.
Speaking of her daughter, Ms. Landman said that Lucy currently crawls awkwardly, but can also pull herself up.
“She’s so resilient,” Mrs. Landman said, holding back tears. “If another baby fell and hit her head as much as Lucy did, but just kept trying new things… I’m so amazed at her.”
Lucy has also now been placed on a ketogenic diet. In the past, this was used to help treat epileptic seizures, which is characteristic of Lucy’s condition.
The above shows the family together. Ms. Landman said the sisters are very supportive of Lucy
Ms Landman said her sisters Audrey, eight, and Edna, six, also supported their sister.
She added, “Her sisters are sad and shocked, but they always try their hardest to find ways to support her.
‘But they regret that we can spend less time with them.
“I hope that the treatment will help her to ease the symptoms that plague her and that she will be able to communicate so that she doesn’t have to be locked up in her own body.
“I want her to stay happy and for society to embrace and accept her, even after she’s outgrown her baby phase.
My advice to other parents going through a similar situation is to remember that you are not alone and there are many good people out there willing to help.
“Progress is possible and all boats take off together.”
https://healthmedicinet.com/i/my-baby-will-never-walk-or-talk-after-being-born-with-rare-brain-disease/