A condition that affects fewer than one in 3,000 people is considered rare. There are about 7,000 types of rare diseases and disorders, with more being discovered each day.
Rare Disease Day was started in 2008 and takes place on the last day of February each year. It is celebrated internationally with the aim of raising awareness about rare diseases, as well as their impact on the lives of people diagnosed with them. Here, four of SPD’s clients and their families come forward to share their stories to raise awareness of the various conditions.
Vivian Goh, 34 years old, Spinal Muscular Atrophy Type 2
Vivian was diagnosed with Spinal Muscular Atrophy (SMA) Type 2 when she was young. SMA Type 2 is a genetic condition which affects the motor neurons, nerves found near the spinal cord that control muscle movement. Approximately 1 in 6,000 babies born are affected with the condition, and about 1 in 40 people are genetic carriers.
Vivian depends on her mother for all activities of daily living, and breathes with the help of an oxygen tank. Although she hasn’t been able to move much and has stayed in bed since her twenties, the cheerful fighter is not taking life lying down. She keeps in contact with the world via Facebook and, with a laptop and two fingers on her left hand, even manages a simple online shopping business.
Teo Pei Shan, 18 years old, unknown condition
Pei Shan is an 18-year-old bundle of joy, yet has not grown out of a baby’s physique. Till today, no doctor has managed to diagnose her medical condition. There are also other complications that have affected her vision, immune system and breathing capability. Due to her condition Pei Shan has to be homeschooled and taken care of 24/7.
Despite the limitations, Pei Shan’s mental growth has been remarkable and she is mature. The keen learner is also musically inclined. She underwent a music training programme conducted by the Beautiful Mind Music Academy’s (BMMA) and performed on the keyboard at BMMA’s inaugural concert in 2015. Pei Shan also realised her dream of performing for an audience on a white grand piano when she appeared on national television during the SPD Charity Show 2015.
Isaac Tan, 5 years old, Cornelia De Lange Syndrome
Isaac was diagnosed with Cornelia de Lange Syndrome (CdLS) at birth. The condition causes a range of physical, cognitive and medical challenges, including slowing of a person’s physical and mental growth. Isaac was also diagnosed with gastrointestinal issues, heart and facial defects, speech and language delay and many others issues related to CdLS. It is estimated to affect 1 in 10,000 to 30,000 people.
Isaac has been receiving intervention at SPD’s Building Bridges EIPIC Centre since 2013. Although taking a longer time to bloom, he is learning well and, like any boy, is active and loves to explore his surroundings.
Malki Chong, 3 years old, chromosome 3p25 deletion
Malki was diagnosed with chromosome 3p25 deletion when he was around 2 years old. The DNA for each person typically has a pair of number 3 chromosomes. There are two segments in the chromosomes, one being the “p” arm, the other the “q” arm. A deletion in a chromosome means that a part or segment of one of the chromosomes is missing. The condition causes developmental delay in several aspects. It is difficult to accurately estimate the exact number of people with this deletion since there is variability in the severity of the condition. People with no symptoms or only mild features may never be diagnosed.
Malki’s development in speech, gross motor skills and social skills was diagnosed to be delayed by up to 11 months. He has been receiving intervention at SPD’s Building Bridges EIPIC Centre since 2014 and, according to his mother, has made amazing improvements. Malki can now verbally communicate more effectively.