Batten Disease & The Beedle Family

Batten Disease & The Beedle Family



What is Batten Disease?

Batten Disease, also known as Neuronal Ceroid Lipofuscinoses (NCLs), describes a class of rare genetic disorders of the nervous system. Batten Disease is caused by genetic defects that prevent brain cells from recycling cellular waste. As a result, this waste accumulates and interferes with both cognitive and motor function. The age of diagnosis and severity of symptoms depend on the exact location of the genetic mutation, but the disease is almost invariably fatal. Classes of the disease include CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, and CLN10. 

Are there any cures or treatments?

There are currently no cures for Batten Disease, but a treatment known as Brineura has been approved by the FDA for use in patients with the CLN2 class of the disease. This treatment consists of enzyme replacement therapy and is administered intracranially on a bi-weekly basis. The treatment can slow or even halt the progression of symptoms in CLN2 patients. 

What is the prognosis?

Batten Disease is a terminal illness with no cure. Diagnosis is usually made after a series of frequent and severe seizures as well as progressive difficulties with motor function. CLN2 patients may experience a slowed or halted disease progression through Brineura treatment, but no treatment can slow or stop any other class of the disease. Life expectancy is dependent on the exact location of the genetic mutation, but the most common form of the disease, infantile Batten Disease, generally causes death during early childhood. In less common cases patients may survive into their teens or even early thirties.  

Who are the Beedle Family?

The Beedles are one of a small handful of families in the USA affected by Batten Disease. They are located in Kankakee County, IL where mother Amanda, a trained nurse by profession, works as a full time homemaker and caregiver to her daughters and father Adam works as an iron worker. Both Beedle children, Annabelle (5 yrs. old) and Abigail (1 yrs. old), have been diagnosed with the CLN2 class of the disorder and are undergoing Brineura treatment. 

From Amanda Beedle:

Both of my beautiful daughters happen to be living with CLN2 Batten Disease. In this type, the problem lies with a missing enzyme. Their cells are unable to make an enzyme that works as the cell’s Pac-Man breaking down cellular garbage. At birth all their cells are brand new and duplicating so fast; affected children appear completely normal and healthy. However, living life without this internal Pac-Man quickly becomes wrought with trouble as brain cells suffer damage and death. At about 3 ½ Annabelle began having unprovoked seizures needing medication and a speech delay. Just a few months after her 4th birthday; it became apparent that something horrible was happening before our very eyes.  

Children with CLN2 regress developmentally, they lose the ability to walk, to talk, to eat requiring feeding tubes, they develop severe and difficult to control seizures, they have movement disorders, they go blind, and have a drastically shortened life expectancy. Children without any treatment pass on between the ages of 6-12. This disease is extremely rare; with only an estimated 20 new cases born into the US every year.

Shortly after diagnosis, both of my girls underwent neurosurgery to get a port placed directly in their brain. I rotate their infusions and travel weekly to Ann and Robert H Lurie Children’s Hospital of Chicago for the lengthy infusion.

Treatment has helped my older daughter Annabelle continue to walk and thrive in a way never previously known at 5 for a child living with CLN2. Through her older sister, Abigail was given the gift of an early diagnosis. With her first infusion at only 10 months old, she is the youngest patient in North America to be receiving this treatment.

How can Steep & Spice help?

Steep & Spice LLC has chosen the Beedle Family as beneficiary to proceeds from the CommuniTea-Batten Disease line because of our investment in the wellbeing of our local community. Being based in Kankakee County ourselves, we feel called to lend what assistance we can to this family as they go through the hardship of dealing with this disease. 

As such, we have decided to dedicate two of our teas to the Beedle Family. The tea called "Annabelle" is a vanilla pomegranate white tea with wonderful floral notes of calendula and hibiscus. The tea called "Abigail" is a watermelon oolong with a light buttery texture. 

25% of the profits from these teas will be donated directly to the Beedle Family to help cover the numerous expenses incurred by their frequent travel to Chicago for Brineura treatment. 10% of the profits will also be donated to the Batten Disease Support & Research Association which funds research for a cure and provides support to other families affected by the disease. 

To participate in our fundraiser and purchase these teas click here.

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