How Batten Disease has Affected the Carroll Family

The Carroll family recently welcomed their daughter Renesmee into the world. They immediately checked for symptoms of Batten disease, a rare, fatal nervous system disorder, as two of Renesmee’s siblings are affected. Doctors declared that the newborn did not have the illness, prompting her parents to label her as a “miracle baby.” Out of the Carroll’s five children, two have Batten disease: Ollie and Amelia. They both are elated to have a little sister, and their parents have made it clear that their disease does not define them.

About Batten Disease

Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a lysosomal storage disorder that typically develops in childhood. Lipopigments accumulate in the tissues of the body, resulting in the death of neurons in the brain, retinas, and central nervous system. There are multiple forms of this disease, and they are characterized by the age of onset. About two to four of every 100,000 births in the United States are affected by Batten disease.

This condition is inherited in an autosomal recessive pattern, meaning both parents must pass down the mutated gene for a child to be affected. If one has Batten disease, they will experience seizures, visual impairment, changes in personality and behavior, dementia, and the loss of motor skills. This disease is fatal.

Batten disease is typically noticed in an eye exam, as vision loss is an early symptom. This exam will be followed by a clinical evaluation and an identification of characteristic symptoms. Tests may be performed to confirm a diagnosis, such as blood and urine tests, skin and tissue sampling, EEGs, electrical studies of the eyes, imaging tests, and enzyme activity measuring.

After a diagnosis is confirmed, treatment consists of managing symptoms. Doctors may prescribe anticonvulsants for seizures, cerliponase alfa, physical and occupational therapy, and vitamins C and E. There are also clinical trials in the works for gene therapies.

About the Carroll Family

The Carrolls live in Poynton, Cheshire in England and have five children: Ollie, Amelia, Micky, Danny, and Renesmee. Ollie, aged nine, and Amelia, aged six, have both been diagnosed with Batten disease. Ollie has lost his vision and his ability to walk, eat, and talk. Amelia has not yet seen these effects as she receives cerliponase alfa every two weeks.

The Carrolls had to fight with the National Health Service (NHS) in order for Amelia to access this medication; their request was granted on compassionate grounds. They now have to make a 400 mile round trip to London so Amelia can be treated at Great Ormond Street Hospital. Their next goal is to make cerliponase alfa available at Manchester Children’s Hospital, as it is closer to their home.

Despite the difficulties that Batten disease has brought, they have not let it rule their lives. They’re focusing on the love and happiness of Renesmee’s birth and the happiness they have as a family.

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