Noemi Alicea, a Hoboken native, is caring for two special needs children. Her son Richard, 3, was diagnosed with autism when he was a little over a year. Her 2-year-old, Zoemy, has been diagnosed with a rare chromosome disorder that has no precedent and thus no prior medical research. Zoemy, who had a platelet transfusion at birth, has spent a quarter of her life in hospitals. She has since been diagnosed with Turner Syndrome, epilepsy, hypotonia, and hemiparesis.
Through additional DNA testing, it also turned out that Zoemy has a rare chromosome disorder. Zoemy’s mother was told that she is the first in the world to be diagnosed with a deletion duplication syndrome of chromosome 1. Alicea said that in the six months she has looked, from the Bronx to North Jersey, she has only now found a doctor willing to look at her little girl. The liability of taking on Zoemy’s case has been seen as too high for most.
A mother’s intuition
Alicea gave birth to Zoemy in Albert Einstein Hospital in the Bronx. Alicea said that after her C-section delivery of a seemingly healthy 7 lb. 9 oz. little girl, she did not see her baby for hours.
“She was born at 3:53 p.m.,” said Alicea. “I didn’t see her until 1 a.m. and that was only because her father was told a ‘fat baby’ was taken into ICU. I wasn’t supposed to move, but I was angry, so I left my room. By the time I saw her, she was all wired up.”
Alicea was told that Zoemy’s platelet count dropped to 30,000 and was supposed to be at 150,000, so the hospital was doing a platelet transfusion.
“My feeling is that they are to wait 24 hours after the baby is born to start poking at it,” Alicea said. “She hadn’t had any milk, any sugar in her system. My feeling was that they did this too early.”
“For six months she has had no meds and no doctors.” – Noemi Alicea
Alicea was right. Within two months, she began to notice a left side drooping and weakness in Zoemy’s face, specifically around her eye. Alicea’s little boy had just been diagnosed with autism.
“After that she started bobbing. I was telling the doctors to try and get her to grab a simple toy. She couldn’t do it.”
Within six months, Zoemy had her first seizure and what Alicea called “baby strokes.” Zoemy also displayed signs of hemiparesis, a weakness on one side of the body, and hypotonia, a state of low muscle tissue along with high blood pressure and low blood sugar.
“We started neurological testing after [the seizure] and at that point she was diagnosed with Turner Syndrome,” Alicea said.
Turner Syndrome is a chromosomal abnormality that occurs in 1 in 2,000 females. Normal females have 46 chromosomes, with two sex chromosomes known as “X.” Females with Turner Syndrome are missing one of those “X”chromosomes, or face additional abnormalities to the cells. This can result in non-working ovaries, the absence of a menstrual cycle, and often sterility.
Alicea said that the physical characteristics shown are often broad chests, swelling or puffiness (hands and feet), low-set ears, webbed necks, and others. It was after the Turner Syndrome diagnosis that DNA testing known as FISH analysis was begun on Zoemy.
First in the world
DNA testing showed that Zoemy had even rarer chromosomal abnormalities. What is known as 1q21.1 duplication syndrome now has 57 genetically confirmed cases worldwide. In the duplication, the part of chromosome 1 is duplicated twice or more. She also has 1q21.1 deletion syndrome. In that case, part of the DNA is missing from a particular spot where the duplication syndrome occurs.
At the time that doctors found this out, Alicea said they could not find any other children confirmed before her.
“They looked all over the world,” Alicea said. “She was the only child they could find with deletion duplication of chromosome 1, so they could not tell me what to do.”
Because of this, Alicea failed to find a doctor in the Bronx, where she lived at the time, that would take on Zoemy’s case. Alicea moved back to Hoboken, where she grew up on Ninth and Clinton streets.
“For six months she has had no meds and no doctors. Nobody would touch her because of the chromosome 1 [issues]. [Doctors] would say, I have never seen something like this,” Alicea said. “She needs a primary doctor. She needs a lot of referrals.”
Alicea found the first doctor willing to take her on, after six months of scouring New York and New Jersey. Dr. Iyad Baker of Ridgefield Park has started the process of seeing Zoemy and assembling a necessary team of therapists to help. Zoemy needs at-home care due to the reaction she could have from germs. Lights and noises also trigger seizures.
“She had four seizures during the hurricane,” Alicea said. “It is scary because she loses motor skills after a seizure. She can’t tell me if she is in pain or if she needs something. We are trying to teach her basic signing so she can tell me when she wants to eat.”
Zoemy, notoriously known as a “cookie monster,” has the sign for Nilla Wafer cookies down pat.
Despite all she has been through, she remains a very smiley toddler.
“She is the happiest baby,” Alicea said. “She is always smiling. She will even come out of surgery with a smile.”
Alicea also remains smiling, for Zoemy. “If she sees me upset, she will know something is wrong. I don’t want her to think something is wrong with her, so I can’t break down.”
Alicea is hopeful that a new team of doctors may help Zoemy’s progress. Thankfully, she has health insurance, but Alicea said insurance will not cover most of the things she will need. A set of growth hormone shots for Turner Syndrome could cost $3,000, Alicea said.
After tests proved that neither parent showed a genetic disposition for these diseases, Alicea is still investigating the hospital where she was born.
“All I have received was a letter saying it was under investigation. I can’t stand still until I figure this out,” Alicea said.
“The most important thing to me was to get the word out,” Alicea said. “Especially if other parents wind up in a similar situation.”
If you or anyone you know would like to learn more about Zoemy or have a way to help, you can email email@example.com.
Amanda Palasciano may be reached at firstname.lastname@example.org.