The average patient with a rare disease visits 8 physicians and receives 2 to 3 misdiagnoses before being correctly diagnosed. On average, this takes 7.6 years. 12 In rare and currently incurable disease such as Juvenile Batten, lack of a diagnosis or misdiagnoses increases family stress, is time-consuming, expensive, can result in mistreatment, and prevents access to family support and education services.
Most children with juvenile Batten disease experience the following symptoms in the following and sometimes overlapping order. However, each child is different so the exact onset and severity of symptoms cannot be predicted. 1,4,6,9
- Blindness or vision problems in previously healthy children between 5 and 10 years old,
- Subtle to more pronounced personality and behavioral changes beginning at age 6,
- Seizures usually begin about 8 years old but can develop at any time during the disease,
- Intellectual decline seen as the inability to keep up with classmates,
- Echolalia (repetitive speech). For example, if a parent says, “It’s time for a bath,” the child may repeat, “Time for a bath.”
- Dementia, Psychosis and sometimes hallucinations,
- Motor problems – coordination, ataxia, Parkinsonism,
- Loss of speech,
- Potential cardiac involvement in the late teens to early 20s,
- Premature death in the late teens to early 20s.
The following tests are often used in combination to diagnose juvenile and other forms of Batten disease:
- Flourescent deposits
The accumulation of autoflourescent ceroid lipofuscin deposits throughout the body is a hallmark sign of juvenile Batten disease. These deposits can sometimes be detected by visually examining the back of the eye. 2 Over time, these deposits appear more pronounced, the thickness of their retina is reduced, and opthamologists see circular bands of different shades of pink and orange at the optic nerve and retina in the back of the eye. Doctors call this a “bull’s eye.” 4
- Visual Evoked Potentials and ElectroretinogramsThese are recordings of electrical signals in the visual processing center of the brain. Several forms of NCL show some type of abnormality in these signals. 12
- Blood tests
These tests can detect abnormalities that may indicate juvenile Batten disease, such as abnormal white blood cells (vacuolated lymphocytes), which are common in several metabolic disorders. 6, 8
- Urine tests
These tests can detect the presence of elevated levels of a substance called dolichol that is found in the urine of many patients with NCL.
- Skin or tissue sampling
The accumulation of ceroid lipofuscin deposits throughout the body is a hallmark sign of Lysosomal Storage Diseases. These deposits can be detected by viewing skin cells under a microscope or in some cases, by visually examining the back of the eye. In general, fingerprint-looking deposits are found in CLN3 disease.8(Photo courtesy of Michela Palmieri, 2013)
- Electroencephalogram (EEG)
An EEG uses special patches placed on the scalp to record electrical activity inside the brain. This helps doctors see telltale patterns in the brain’s electrical activity that suggest a patient has seizures and whether those seizures are typical of juvenile Batten disease or one of the other NCLs. 3, 9
- Brain scans
Imaging can help doctors look for changes in the brain’s appearance. Two commonly used imaging techniques are computed tomography, or CT, and magnetic resonance imaging, or MRI. Both are sophisticated technologies that may be able to detect that certain brain areas are shrinking in NCL patients. 1, 10
- Measurement of enzyme activity
In several NCLs such as the Infantile and Late Infantile (not Juvenile) forms, certain enzymes are greatly reduced or totally absent. Measuring the level of these enzymes in white blood or skin cells can separate JNCL from enzyme-deficient NCLs.
- *DNA analysis
Screening DNA blueprints obtained from blood or skin samples for mistakes in one or more of the 14 genes associated with NCL is a definitive method of diagnosing NCLs. 2, 7
*There can often be difficulty seeing the signs described above. For example, the interior surface of the eye can appear normal early in the disease when autoflourescent deposits are very small. Vacuolated lymphocytes and dolichols may be present at levels too low to detect in blood or urine. The only definitive diagnosis for genetic diseases like juvenile Batten disease is a DNA test. 2,5,8
What to do if you suspect your child has juvenile Batten disease?
These resources address the diagnosis and/or management of juvenile Batten disease and may include treatment providers.
- Batten Disease Support and Research Association Centers of Excellence
- Hospital de Ninos de la Provincia de Cordoba, Argentina Cemeco
- Institute for Mother and Child Healthcare of Serbia, Belgrade
- Massachusetts General Hospital, Boston Massachusetts
- Nationwide Children’s Hospital, Columbus Ohio
- The Blue Bird Circle Clinic Batten Disease Center of Excellence at Texas Children’s Hospital, Houston Texas
- University of Rochester Medical Center, Rochester New York
- Boston Lysosomal Storage Disease Program (BoLD) (Children’s Hospital of Boston)
- Cleveland Clinic Lysosomal Storage Disease Program
- Emory’s Lysosomal and Peroxisomal Storage Disease Center
- Johns Hopkins Lysosomal Storage Disease Program
- Lysosomal Storage Disease Center | UCSF Benioff Children’s Hospital
- Lysosomal Storage Disorders Program (Children’s National Medical Center)
- Metabolic Clinic | Children’s Hospital Colorado
- STAR Center for Lysosomal Storage Diseases (Cincinnati Children’s Hospital, OH)