Caring for his children with VICI syndrome: Muzaffar Anjum’s story
Muzaffar Anjum, who lives in Qatar, a peninsular Arab country, is a caregiver to his son, Muhammad Asjad. Muhammad is diagnosed with a rare genetic disorder called VICI syndrome. Due to the severity of the condition, many individuals do not reach adolescence. Muzaffar’s daughter, Maria, who also had VICI syndrome, sadly passed away recently.
Muzaffar shares with us his son and daughter’s disease symptomology and pathology, his experience with the healthcare services in Pakistan and Qatar, and the family’s journey to a definitive diagnosis through genetic testing.
What is VICI syndrome, and can it be cured?
VICI syndrome is an extremely rare condition affecting approximately 100 individuals worldwide. It is caused by variants in the EPG5 gene. It is a multisystem congenital disorder characterised by agenesis (failure to thrive) of part of the brain called the corpus callosum. The disease begins in early life and affects much of the body, including, but not limited to, the brain, eyes, heart, immune system, and skin. There is no cure for VICI syndrome. Supportive medication for symptom management can be prescribed.
Since infancy, Muhammad and Maria presented neurodevelopmental delays. They experienced short-term memory and were unable to attend a community school with other children in their village. Muhammad and his sister were able to participate in home-based activities and tasks such as eating, washing and getting dressed, with minimal assistance. Muhammad was able to communicate to a better extent than his sister, however, in more recent years his speech has decreased and is now only able to communicate in low tones.
The siblings both experienced gradual motor deterioration and weight loss after their teenage years.
Muzaffar’s daughter eventually stopped being able to move entirely. Her feet and hands turned inwards, and she experienced extreme spasticity in both her upper and lower limbs. During her final years, Muzaffar’s daughter suffered from repeated seizures and developed breathing complications and lung infections, during which she was hospitalised for the first time. Maria’s second visit to the hospital was where she took her final breath. Her death is recorded as septic shock, generalised epilepsy and epileptic syndrome, and acute respiratory failure. She was 29 years old.
Muhammad, who is now 24 years old, is unable to stand up or walk due to his deformed hands and feet, spasticity, and weakened body. He is also experiencing difficulty eating due to the tremors in his hands and the rest of the body. Muhammad’s independence is now very low.
A definitive diagnosis through genetic testing.
The family grew up in Pakistan where there was “not much awareness about such conditions at the time.” It was in 2003 that the family moved to Qatar. Once in Qatar, Muzaffar’s children saw a doctor who identified the severity of their neurodevelopmental challenges. Muhammad was recommended to attend a specialist school, however, Maria was unable to join her brother due to the severity of her limited cognitive abilities. A neurologist eventually recommended they receive genetic testing to determine why their health was deteriorating rapidly. VICI syndrome was diagnosed from the results.
“Necessary expert support is not regularly available.”
Muzaffar feels that medical experts in the region know either nothing or very little about VICI syndrome. The long waiting times for medical appointments means that Muzaffar’s family continue to go up to 9 months without medical advice. This has been made worse with the effects of the pandemic. “When we do get to see a doctor and they propose other tests, we then wait for the appointment for the test for another several months”, Muzaffar explains. Muzaffar feels that the medical professionals are “sympathetic but helpless” when it comes to his children’s disease.
How can the rare disease community help Muzaffar’s family and others in their position?
Muzaffar is desperate to reach out to other families who are affected by VICI syndrome. He hopes that through connections families can share information on research, support organisations, and be introduced to specialist medical professionals around the world.
“The rare community can also help me to advocate and spread awareness about VICI syndrome, and shine a light on the families it has impacted.”
Muzaffar explains that there are researchers at Sidra Medicine in Qatar who are currently searching for further treatments for VICI syndrome. However, Muzaffar hopes that increased awareness of the disease in the community will catch the attention of more medical professionals who can assist those who have already begun searching for better treatments and even a cure.
Living with, or being a parent to a child with an extremely rare and life-limiting genetic disease like VICI syndrome can be isolating. It can impact the quality of life of individuals with the disease and their families. The VICI Syndrome Family Support Group
(www.facebook.com/groups/ViciSyndromeFamilySupport/) allows all individuals and family members of someone with VICI syndrome to join this community group. It serves to connect and support individuals and families with VICI syndrome.
The Genetics Home Reference (GHR), managed by the National Library of Medicine, contains further information on VICI syndrome.
A list of FAQs about VICI syndrome can be found on the National Organization of Disorders of the Corpus Callosum website page.
Different medical names for VICI syndrome
VICI syndrome is referred to as many different names in medical literature. This includes absent corpus callosum cataract immunodeficiency, corpus callosum agenesis-cataract-immunodeficiency syndrome, dionisi Vici Sabetta Gambarara syndrome, and dionisi-Vici-Sabetta-Gambarara syndrome.