Twin Sisters Diagnosed With Rare, Inherited Neurodegenerative Disorder Could Die Before They Reach Teens Or Twenties

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Amelia Kahn was just a one-year-old when she was diagnosed with autism. She was also diagnosed with vision loss when she reached the age of six.

Her parents, Dave and Karen Kahn were recently told by doctors that their daughter had Batten disease as well. This is a rare, inherited neurodegenerative disorder, which has a minor to no symptoms. According to MedicineNet, it’s inherited in an autosomal recessive manner and its fatal genetic condition that normally begins in childhood.

Moreover, it’s a form of a group of neurologic disorders called the neuronal ceroid lipofuscinoses, or NCLs. The early signs can be vision changes, seizures, clumsiness, or behavior changes. With time, neurologic deficiencies worsen, and a patient loses sight and motor skills. The condition which is also known as Spielmeyer-Vogt-Sjögren-Batten disease is often deadly when patients reach their teens or twenties.

Both Dave and Karen didn't know they were carriers of the gene. According to Daily Mail, the disorder will ultimately rip off Amelia, now seven, of her speech, mobility and could kill her before she arrives in her teenage life.

Last month, Doctors revealed that they highly suspected Amelia's twin sister Makenzie of having a Batten disease as well. The twins' rearmost hope to delay the progressions of the disease might be a new clinical trial if their parents could have enough money.

Karen conceived the twins via in vitro fertilization (IVF) following years of trying. Amelia's first-grade teacher advised Dave and Karen to let her be checked for an electroretinography (ERG). This is an eye test utilized to track down an abnormal function of the retina. The retinal specialist then affirmed that Amelia had macular dystrophy. It's an uncommon genetic eye disorder leading to loss of vision and at times blindness.

Not so long, Makenzie was also diagnosed having macular dystrophy, but a lighter version than Amelia's. "She couldn't see the words at all as we were reading," Karen told Daily Mail Online. Despite, Amelia and Makenzie's vision disorder, Dave and Karen said that looking at their daughters, "you wouldn't know either of them had any symptoms."

Approximately 14,000 children are diagnosed with Batten disease worldwide. Its diagnosis can be difficult at first since numerous physicians, parents never heard of it. Read also other rare diseases here.