Weekly Feature



2017-12-20 / Local News

Amherst girl with mysterious illness receives diagnosis

by HOLLY N. LIPKA
Reporter


Addison Cannon, 9, of Amherst, lost her ability to speak and walk from a very aggressive deterioration in her brain that left doctors baffled. Her latest test results finally determined the cause of Addy’s rare condition: a single gene mutation. Addison Cannon, 9, of Amherst, lost her ability to speak and walk from a very aggressive deterioration in her brain that left doctors baffled. Her latest test results finally determined the cause of Addy’s rare condition: a single gene mutation. Addison Cannon, 9, of Amherst, lost her ability to speak and walk from a very aggressive deterioration in her brain that left doctors baffled.

She had trouble feeding as a baby and was late hitting her baby milestones of crawling and walking. At age 4, Addy needed to use a pull-behind walker and began losing her ability to speak. Today she requires a wheelchair and a feeding tube. Her neurodegeneration has also led to difficulty breathing and periodic seizures.

When The Amherst Bee last spoke with the Cannon family in March, they were planning a benefit to raise money for the purchase of a wheelchair-adapted van and further testing.

They were also awaiting Addy’s latest test results, which finally determined the cause of Addy’s rare condition: a single gene mutation.

The condition involves the massive overproduction of ribosomal RNA, which essentially poisons the brain cells, according to a study in The American Journal of Human Genetics.

The mutation is in a protein coding gene called UBTF, which was discovered through a process called whole exome sequencing. This technique analyzes all of the genes in a person’s genome that are expressed.

“[Geneticists] are basically reading through [approximately] 20,000 genes base by base and looking for a typo,” said Laurie Sadler, clinical geneticist. “It is very time consuming because you are looking at thousands of genes and millions of base pairs or letters in the genes.”

The state-of-the-art process allows doctors to not only test genes that are known to cause certain problems, but also to identify new genes. The process takes three to four months to complete.

“This was a gene that was previously unidentified as a cause of disability and now we know is causing a neurodegeneration disorder in kids.”

This genetic change is not inherited, which was a relief to the family of five, including daughters Raegan, 6, and Megan, 3.

“As a mom, I at least could take a breath with that one,” said Christine Cannon.

Addy previously had an exome sequence completed in Rochester as part of a research study, but results from the study could not be shared publicly.

After Addy’s second exome sequence was complete, however, doctors were able to input her genomic information into an online gene matching program called GeneMatch and compare her results to other patients who had similar changes identified on the whole exome sequence. That’s when the Cannon family was told Addy was one of seven children in the world found with the condition.

Addy’s information was submitted to an American Journal of Human Genetics study that focused on the UBTF gene mutation. The study was published in August and concluded that children born with the condition began to lose motor, cognitive and speech functions between the ages of 2.5 to 7 years of age.

All of the children with ages ranging from 9 to 23 have lost their ability to speak and walk. Some of the children also have seizures; spasticity, where certain muscles are continuously contracted; and dystonia, involuntary muscle contractions. All were found to have a profound intellectual disability.

“All of the kids have similar attributes. Still, the one similar thing is that basically their brain is dying; the disease is taking their brain,” said Cannon.

After the study was published, the Cannons were told more children with the condition are living in Tennessee and Spain. The family was also told one of the children in the study died.

“With [the Health Insurance Portability and Accountability Act], we don’t know if he died because of the disease. He could’ve died in a car accident. We have no idea,” said Cannon.

Since the discovery of the mutation is so new, there aren’t many answers for the family. To connect and support other families who have children with the disorder, Cannon created a Facebook support group.

“We know that Addy’s brain is slowly being taken away. At what rate? We don’t know. At what length? We don’t know. And we also don’t know what will go next. But at least we can be in a community of people that are going through the same thing.”

Currently, Cannon drives Addy to the Cantalician Center on weekdays in their new wheelchair-equipped van. At the center, Addy spends time with her friends and receives physical, occupational and speech therapy.

The Cannons are also looking to install an elevator in their home or possibly move to another house with a bedroom on the main level, since lifting Addy up the stairs is becoming difficult. They haven’t decided what would be best, but they are determined to give Addy a happy life.

“We want her quality of life to be good,” said Cannon. “We’re not going to keep her home because we’re nervous she’s going to have a seizure. We’re going to have her go out, go to school, be with her friends and enjoy life.”

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