April Karmazyn-Wall, a six-month-old baby suffering from the extremely rare genetic disorder Emanuel syndrome, may soon be joining her parents at home in Wallsend, a town in North Tyneside, England, Chronicle Live reports.

Caused by an extra chromosome called derivative 22 referred to as der(22), Emanuel syndrome leads to severe intellectual disabilities, weak muscle tone, and failure to gain weight throughout development. Genetics Home Reference cites over 100 known cases of the condition, but the worldwide prevalence of the debilitating disorder is unknown.

For the past six months, baby April has been receiving vital care at Newcastle's Royal Victoria Infirmary. Among other comorbid conditions, she was treated for pulmonary atresia, a type of congenital cardiovascular anomaly in which the heart's pulmonary valve does not develop properly.

She also has gastrointestinal difficulties and because of her delayed muscle tone, is unable to sit up on her own. Like half of all reported cases of Emanuel syndrome, she was born with a cleft palate.

April was born by cesarean section at 38 weeks, a normal term. Though at 4 pounds, 10 ounces, her weight was lower than average birth weight range of 5.5 to 8.8 pounds.

Although Emanuel syndrome can be detected by routine genetic tests, April's rare condition was a surprise to her parents, 31-year-old Nadia Karmazyn and 25-year-old Scott Wall.

"When she was born we did not know about the condition and we were shocked that she was diagnosed with it — it has been an incredibly difficult few months," Karmazyn told the Chronicle Live.

The baby has been through 10 operations thus far, and is currently taking three types of medication. Karmazyn and Wall hope that their child will be discharged from the hospital in coming weeks.

"We can't wait for April to come home as she has only been home for one hour in her life," her parents said. "It will be lovely to be able to do normal things with April, like going shopping or go for a coffee with friends."

Because the precedents for Emanuel syndrome are so limited, it's unclear how she will progress with time. Some cases eventually learn to walk and talk, while others do not.

While heart and kidney defects account for high rates of mortality in the first months of life, survival chances improve afterward, according to an account in GeneReviews, and many individuals with Emanuel syndrome survive into adulthood with appropriate care.

While babies with Emanuel syndrome typically have round faces and prominent foreheads, individuals tend to develop characteristically pinched features as they age.

April's parents are grateful that despite her condition, their baby has come this far — and remains in high spirits.

"April has quite a lot of medical problems but she smiles all the time and is easily entertained by the balloons around her cot," said Karmazyn.

"We can't put into words how proud we are of April as she has been through so much and continues to smile."

For photos of baby April and her mother, read the article at the Chronicle Live.

 

Sources: Medne L, Zackai EH, Emanuel BS. Emanuel Syndrome. GeneReviews. 2010.

Emanuel syndrome. Genetics Home Reference. 2008.