“I was his nurse before I was his mom,” said Teresa Napierala-Pyle, a Manchester mother of two and activist for the little-know congenital syndrome that affects her son, Zakry, now 20 years old.
Zakry was born with velo-cardio-facial syndrome, the second most common genetic disorder, following Down syndrome. People with VCFS are missing a portion of the 22q11.2 chromosomes. Most healthy adults have 23 pairs of chromosomes (22 autosomes pairs plus one pair of sex chromosomes).
For some unknown reason, Zakry’s, and about 1 in 2,000 children nationally, have micro-deletions in their 22nd pair of chromosomes. These missing genes cause developmental defects in specific structures that those 40 missing genes influence.
It’s a condition that Pyle says is just not being recognized.
All the diagnoses were wrong.
VCFS is often under-diagnosed or misdiagnosed, leaving the parents the specialist, Pyle said.
Those misdiagnoses can not only keep the children from getting proper treatment, but in some cases, a misdiagnosis can lead to surgeries that will prevent needed corrective surgeries in the future.
That’s why Pyle is leading an awareness program that hopes to mandate screening and promote awareness among doctors, healthcare professionals and special education providers.
“Because of the poor treatment these kids are getting from doctors, who are unknowledgeable of it, they are either dying or the proper interventions aren’t taking place and they are developing serious… issues when they reach the teenage years,” Pyle said.
Zakry’s medical issues first appeared in utero. His esophagus was grossly underdeveloped and did not connect to his stomach. He was born 9½ weeks early due to severe fetal distress and a dangerously low heart rate.
Shortly after his birth, a feeding tube was placed in his stomach, and he was kept in natal intensive care for 88 days. He was too fragile to be held by his mother.
A small surgery routed his esophagus through his neck so saliva could drain, but the major corrective surgeries would have to wait until he was further developed.
The following years were a blur of doctor visits and surgeries in fight to keep him alive.
It wasn’t until he was 9 ½ that an astute pediatrician suspected that Zakry’s range of conditions might have a common underling condition and referred him to geneticist, Dr. Shprintzen, one of leading experts in VCFS.
What made the syndrome’s initial discovery so challenging is the range of symptoms that can manifest.
According to the Velo-Cardio-Facial Syndrome Educational Foundation, Inc., about 188 secondary conditions can be traced back to VCFS. Although not everyone will have all of the symptoms, many will show varying dergrees of palatal abnormalities (such as cleft lip and/or palate), feeding difficulties, conotruncal heart defects, hearing loss or abnormal ear exams, genitourinary anomalies, low blood calcium levels, microcephaly (small head), mild to borderline mental retardation.
Psychiatric disorders begin to show the patients become adults, as well as severe immunologic dysfunction.
Pyle said that had Zakry’s diagnosis come sooner, her son could have placed in therapy programs that might have lessened the disorganized schizophrenia that began to show in 2010.
“He was not diagnosed [with VCFS] until he was 10. Had we had the proper intervention with behavioral therapist to address the stress and anxiety [common with the syndrome], there is a high probability that he would not have disorganized schizophrenia today.”
The genetic makeup of the parents influences the child’s condition.
“The extent that your child is affected [by VCFS] is based on how strong a genetic fate that the parents have. If [they] are prone to heart problems, then their child is definitely going to have heart issues,” Pyle said.
She said that her family is prone to having depression. That predisposition led to Zakry’s anxiety and psychiatric issues.
A hidden recessive trait that might go unnoticed in the parents manifests as a serious condition in the VCFS child.
Pyle is lobbying for greater awareness of the syndrome and an expansion of infant testing.
“We’ve made it this far, and we’re going to make it all the way to Washington,” Pyle said. “When we go to Congress we’re going to ask that newborn infant screening include testing for this syndrome, as well as mandating medical and nursing schools to include more information on it along with special education majors receive more education on it.”
Currently Pyle is collecting signatures on Change.org for
She has founded VCFS Warrior parents, a private support group on Facebook for parents and caregivers of VCFS patients.
One issue, according to Pyle, caregivers face is whether to gain a conservatorship over their child grows into an adult, or guardianship.
Pyle recently was in contact with a Pennsylvania mother of a VCFS youth whose severe mental illness made his care more than the mother could handle.
“She needed some help and someone railroaded her into a guardianship instead of encouraging her to get a conservatorship. And so the state took custody of him. They basically have him in a chemical straightjacket, because they are medicating him incorrectly – they don’t understand the syndrome.”
Pyle said that because of her experiences with Zakry, she is dedicated to helping other parents who are facing VCFS.
“This is a very dangerous syndrome; a life-threatening syndrome.”
Contact Pyle at Pyletnt@msn.com.
She is planning an auction to fund the trip to Washington next year. The auction is tentatively set for Sept. 6. Brian Brown will donate his auctioneer skills. The time and location will be announced.
Pyle asks those interested to sign her petition at www.change.org/petitions/22q11-2-what-can-you-do.