DEPARTMENT OF EDUCATION
ZAMBALES NATIONAL HIGH SCHOOL
Senior High School
Iba, Zambales
Telefax No: (047) 602-1202
A Case Study of Julija Cukovic's
Lifetime Battle with Apert
Syndrome
DEPARTMENT OF EDUCATION
ZAMBALES NATIONAL HIGH SCHOOL
Senior High School
Iba, Zambales
Telefax No: (047) 602-1202
Synopsis
Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder that
causes the fusion of the skull, hands, and feet bones causing deformities. It occurs in
one out of every 65,000 to 88,000 births. Julija Cukovic is an IVF baby, born in Serbia to
proud parents Ivica and Jasmina Cukovic. She was diagnosed with Apert syndrome at
birth. She already endured three surgeries before turning three years old. Back in the
year 2015, three-year-old Julija has already had 30 specialist appointments. After
several surgeries, she requires years of follow-up treatment and further surgery in her
teenage years for her to have a normal life.
Introduction
Apert syndrome is defined as a rare genetic disorder that causes abnormal
development of the skull discovered by French pediatrician Eugène Apert. Babies with this
syndrome are born with a distorted shape of the head and face. They have fused skull
bones when usually the bones join together over time. They have vision, hearing,
breathing, and eating problems as well as slow development because they are born with
a misshapen head. It has no cure, but surgery can help correct some of the problems that
result (Hoffman,2022). According to Cleveland Clinic (2021), this syndrome is caused by
the mutation of the FGFR2 gene that occurs early during pregnancy. The mutation could
be inherited or newly formed. There is a 50% chance that you could have a child with
Apert syndrome if one parent has a genetic condition (autosomal dominant). A child with
Apert syndrome will require life-long observations and checkups. A doctor will check for
additional complications caused by Apert syndrome and suggest appropriate treatments
(Fletcher, 2018).
Jasmina and Ivica Cukovic’s daughter, Julija Cukovic an IVF baby born in Serbia.
She has been diagnosed with Apert Syndrome at the time of birth. She has undergone
many surgeries and meets various specialist appointments to ensure she gets the very
best treatment possible. This case study provides a detailed overview of Julija’s diagnosis,
treatment, and progress in managing the symptoms of her condition as she goes through
a lifetime fight with Apert syndrome. Additionally, it highlights the challenges faced by
children with Apert syndrome and the needed interventions for effective treatment.
Findings
Apert syndrome is typically diagnosed at birth based on physical characteristics
such as a high, prominent forehead, an underdeveloped upper jaw, prominent eyes, and
fused fingers and toes. The degree of fusion in Apert syndrome varies; some people
have three fused digits on each hand and foot, while others have more severe fusion or
extra fingers/toes (polydactyly). Abnormalities in the elbow or shoulder bones can limit
movement and impede daily activities in people with Apert syndrome. The syndrome is
caused by a mutation in the FGFR2 gene, which hinders bone growth and development.
Apert syndrome is inherited in an autosomal dominant pattern, and advanced paternal
age is associated with an increased risk of the genetic mutation in sperm. Apert
2
DEPARTMENT OF EDUCATION
ZAMBALES NATIONAL HIGH SCHOOL
Senior High School
Iba, Zambales
Telefax No: (047) 602-1202
syndrome is treated primarily through surgeries.
Julija Cukovic was born with Apert syndrome. She has vision, hearing, and
breathing problems, as well as delayed development due to distorted skull bones. She
also has webbed hands and feet and is unable to chew properly, making eating difficult.
Julija's surgeries have been difficult due to her previous unsuccessful operation. Julija's
case demonstrates the value of early diagnosis, specialized medical care, and a
supportive home environment in managing and improving the quality of life for people
with Apert syndrome.
Discussion
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A
key feature of Apert syndrome is the premature closure of the bones of the skull known
as craniosynostosis. This early fusion prevents the skull from growing normally and affects
the shape of the head and face. In addition, a varied number of fingers and toes are fused
called syndactyly. There are three main types of syndactyly in Apert syndrome: Type I
(spade hand), Type II (mitten hand), and Type III (rosebud hand). The mutation occurs
early in a pregnancy. Because FGFR2 plays an important role in bone growth, this gene
provides instructions for making a protein; disruption of it may cause certain traits of Apert
syndrome. Mutations in a gene known as FGFR2 cause Apert syndrome.
Apert syndrome is inherited in an autosomal dominant pattern, which means one
copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with
Apert syndrome have syndactyly of the fingers and toes. The severity of the fusion varies,
although the hands tend to be more severely affected than the feet. Most commonly, three
digits on each hand and foot are fused. In the most severe cases, all of the fingers and
toes are fused. Rarely, people with Apert syndrome may have extra fingers or toes called
"polydactyly". Some people with Apert syndrome have abnormalities in the bones of the
elbows or shoulders. These bone problems can restrict movement and impede everyday
activities. In some people, abnormalities occur on both sides of the body, but in others,
only one side is affected.
Apert syndrome is usually diagnosed at birth based on physical signs such as a
high, prominent forehead, underdeveloped upper jaw, prominent eyes, and fused fingers
and/or toes. Fused fingers and toes distinguish Apert syndrome from other craniofacial
disorders. There is no known cure for Apert syndrome. Surgery will significantly reduce a
child’s symptoms to help them lead a normal life. Surgery is done to release pressure to
the brain, along with reconstructive surgery, will occur soon after your baby is born. Family
history is usually not significant because most cases of Apert syndrome are sporadic.
A paternal age effect increases in fathers older than 50 years. This means that the
risk of having a child with Apert Syndrome is higher in older fathers than in younger fathers.
The reason for this is that the genetic mutation that causes Apert Syndrome occurs more
frequently in the sperm of older men. The risk of having a child with Apert Syndrome is
3
DEPARTMENT OF EDUCATION
ZAMBALES NATIONAL HIGH SCHOOL
Senior High School
Iba, Zambales
Telefax No: (047) 602-1202
estimated to be 9.5 times higher for fathers older than 50 years compared to those younger
than 29 years. The increased frequency of mutations in sperm is thought to be due to the
accumulation of mutations over time in the male germ cells. Apert syndrome has an
autosomal dominant inheritance, and advanced paternal age is found to be associated
with the de novo occurrence of Apert syndrome. There is a 50% chance of the genetic
trait being passed to each child. If a pathologic variant person is present in the family,
prenatal testing for pregnancies at increased risk should be ideally performed.
Born in Kragujevac, a town 120km southeast of Belgrade, Julija Cukovic is in
Adelaide to have life-changing surgery at the world-famous unit. After the baby was
delivered, no one brought her to her mother, not even to be fed. Nobody, not even the
doctors, explained. The couple asked about their daughter’s whereabouts and waited
anxiously for an answer. Julija, it seemed, had been written off. It was assumed that not
even her parents would want her around. She lives with Apert Syndrome, a rare genetic
disorder that causes vision, hearing, and breathing problems as well as slow development
as a result of being born with distorted skull bones. In Julija’s case, her fingers and toes
have not separated either, which makes holding a crayon or picking things up difficult.
When her parents finally learned about Julija’s disability, they were told that Julija would
not live long and had best be placed in an institution.
By the time she was barely older than three months, Juljia had undergone two
surgeries on her head and had spent a month in intensive care with pneumonia. Because
of her severe breathing problems and her need for frequent specialist attention, the
Čukovićs decided with heavy hearts to place her in an institution for children with
disabilities in the capital, where she would have quick access to emergency care. With
hindsight, Jasmina realises that the decision to leave Juljia at the institution was not good
for her child. True, the doctors and staff helped and supported herself and her husband,
and Juljia received specialised medical care, but when she visited her baby only days after
leaving her in the institution, “nothing had remained of that child who used to smile and
coo,” she recalls. “She had a lost look in her eyes, had visibly lost weight and was sad in
a way.” Shortly thereafter, Juljia had a bout of pneumonia and barely made it out of the
hospital alive. Only now, with Juljia back at home with them, does Jasmina recall disturbing
scenes she tried to downplay in her mind, like a little girl sitting in a chair alone all day
without even a doll or a picture book to keep her occupied. Back home, surrounded by
loving parents, toys, and a baby sister, Juljia is thriving. She has put on weight and has
not only learned to sit, which she was unable to do when her parents brought her back
from Zvečanska, but also to walk. Unlike so many children in institutions, she gets to wear
her own favourite clothes.
Conclusion
Apert syndrome (acrocephalosyndactyly) is an autosomal dominant condition in
which increased paternal age has been implicated in its development. It is a rare genetic
disorder that causes craniosynostosis and syndactyly. While there is no cure for Apert
syndrome, treatments and surgeries can help manage symptoms and improve quality of
4
DEPARTMENT OF EDUCATION
ZAMBALES NATIONAL HIGH SCHOOL
Senior High School
Iba, Zambales
Telefax No: (047) 602-1202
life. Treatment usually involves a multidisciplinary approach, including plastic surgeons,
neurosurgeons, ophthalmologists, otolaryngologists, and orthopedic surgeons. The case
of Julija Cukovic provides a thorough understanding of the difficulties encountered by
people with this rare genetic disorder. Julija's journey demonstrates the value of early
diagnosis, specialized medical care, and a supportive environment. Despite multiple
surgeries and specialist appointments, Julija's progress demonstrates the effectiveness of
surgical interventions in managing Apert syndrome symptoms. Moreover, her case
emphasizes the importance of parental support and a nurturing home environment in
promoting the well-being and development of people with Apert syndrome. Healthcare
professionals and families can collaborate to improve the lives of those affected by this
difficult genetic disorder by raising awareness and providing insights into their
experiences, as Julija did.
Recommendations
Based on the information gathered from the case study and growing knowledge of
Apert syndrome, here are some recommendations that aim to enhance the general care
and welfare of those who have the condition:
1. Early Diagnosis and Intervention: To initiate the right interventions and
treatments as soon as possible, Apert syndrome must be diagnosed as soon
as possible.
2. Surgical Treatments: The treatment of Apert syndrome heavily relies on
surgery. Relieving pressure on the brain, reconstructing damaged areas, and
enhancing function are the main objectives of surgery. Depending on the
specific needs of the patient, specialized surgical treatments like Craniofacial
treatment and the separation of fused fingers and toes should be taken into
consideration.
3. Multidisciplinary Care: Treatment for Apert syndrome requires a
multidisciplinary approach. To provide comprehensive care tailored to each
patient's needs, a multidisciplinary team comprising plastic surgeons,
neurosurgeons, ophthalmologists, otolaryngologists, orthopedic surgeons, and
therapists should collaborate.
4. Frequent Follow-up and Monitoring: To evaluate their progress, spot any
issues or difficulties, and modify treatment regimens as necessary, people with
Apert syndrome should have frequent follow-up appointments and monitoring.
5. Supportive Home Environment: For people with Apert syndrome, it's essential
to establish a loving and encouraging home environment. In addition to giving
opportunities for social and educational growth, parents and other caregivers
should also offer emotional support and access to relevant resources.
Providing assistive technology, like breathing machines and hearing aids, and
promoting independence can also improve the person's quality of life.
6. Education and Awareness: It is crucial to educate the public, educators, and
healthcare professionals about Apert syndrome. Providing the public with
5
DEPARTMENT OF EDUCATION
ZAMBALES NATIONAL HIGH SCHOOL
Senior High School
Iba, Zambales
Telefax No: (047) 602-1202
knowledge about the difficulties experienced by people with Apert syndrome
can foster acceptance, tolerance, and support.
References
Cleveland
Clinic.
(2021,
November
22).
Apert
Syndrome.
https://my.clevelandclinic.org/health/diseases/22077-apertsyndrome?fbclid=IwAR19CJlg6PpRg03OrthmbSDgxDvrOb0_Zrsl6ECBg_IsrIR2
NHybpg9FgFU
Fletcher, J. (2018, February 13). What is Apert syndrome? MedicalNewsToday.
https://www.medicalnewstoday.com/articles/320907?fbclid=IwAR17Cj0T2tL2VIn5
7utmmgtzI-0JZAL-Kii42YtHYsDtAGZ1MvyGjbqklNQ
Guo, G. W., MD. (2020, August 16). Apert Syndrome clinical presentation: history,
physical, causes. Medscape. https://emedicine.medscape.com/article/941723clinical?fbclid=IwAR2Qwnw4Umb_K0Mc7svC6QcCBCBfaiCNjIKxcCGdGgU5AcSaf1Rp16jh14&form=fpf
Hoffman, M., MD. (2022, December 06). Apert Syndrome.
WebMD.
https://www.webmd.com/children/apert-syndrome-symptoms-treatmentsprognosis?fbclid=IwAR1ysJEHyi8avHZpdFNF22UIYpGg2AuMM-J2g7PpAcKG0Z9zziHnn3-3yM
MedlinePlus.
(2019,
August
1).
Apert
Syndrome.
https://medlineplus.gov/genetics/condition/apertsyndrome/?fbclid=IwAR0NsXRDqH_PqHIZzNW_4qGkEwSN6ptXheCiZwekcozW
1g7FezUPLDxBPPo
Schwarz, B. (2016, June 9). A parent’s most difficult choice: The awful truth about Serbia’s
institutions for children. Heraldsun. https://www.heraldsun.com.au/lifestyle/aparents-most-difficult-choice-the-awful-truth-about-serbias-institutions-forchildren/newsstory/916dd732d1d5dd9b9494b9f93bf69cfb?fbclid=IwAR2CPNyjTbz168v7tE5qiK
4cuXTRO_bRQwh45RDtM-fy69i9khdRKdQviQc
Stokes, K. (2015, February 2). Julija Cukovic, born with Apert Syndrome, to undergo lifechanging surgery at the Australian Craniofacial Unit. The Advertiser.
https://www.adelaidenow.com.au/news/south-australia/julija-cukovic-born-withapert-syndrome-to-undergo-lifechanging-surgery-at-the-australian-craniofacialunit/newsstory/08cacafcfe472ac37b2e43658c6ab3f6?fbclid=IwAR0d9OTTBlM6KvTX_un6
62nY-FdtWr9AbT_ayDmQXIb9vF5FBS1821x6OaA
6