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Muhammad (Bosch-Boonstra-Schaaf Optic Atrophy Syndrome [BBSOAS])
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)
Profile
Name : Muhammad
DOB : 2018
Disorder : Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)
A ‘Super Rare’ Baby
Muhammad was born in December 2018 with what is known as a ‘super rare’ disease, called Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, most commonly shortened to the acronym BBSOAS. Only 200-250 cases of BBSOAS are currently known of globally. During Mohammed’s mother’s pregnancy, his parents were completely unaware of what was ahead. There was no sign of any difference from what they had experienced with their previous child. It was only after Muhammad’s birth that hints of differences began to show.
The Waiting – A Roller Coaster for RD Parents
At the hospital soon after he was born, Muhammad was given a standard hearing test which showed that there were differences in his hearing. Further standard health checks were done, which all came back with more questions from doctors. After two months, another, more detailed hearing test was done and again suggested that Mohammed could not hear fully. Every test and result felt like a rollercoaster for Muhammad’s parents. It was really hard to be faced with such uncertainty and to have so many tests and periods of waiting for answers.
By the age of three months, Muhammad was unable to hold his head up; his neck was floppy. Specialists at the hospital also described him as having global development delays and his parents saw a difference between his development and that of his older sister when she was his age. The next step specialists suggested was an MRI for Muhammad – a scary process for most adults let alone a small baby and his parents. The result of the MRI was ‘normal’; it didn’t answer the doctor’s questions about what was causing Muhammad’s difficulties. They did a chromosome test next, which also came back ‘normal’. The final step suggested was to do a detailed genetic test. The sample was sent to Hong Kong. Muhammad’s parents had another long wait – this time six months, before a diagnosis came back.
Shock and Confusion
When Muhammad’s mother, Zuzilawati, first heard that her baby had BBSOAS, her reaction was one of complete shock. It was unexpected. Rather than sadness, she initially felt stunned to hear that her son had a disease so rare that he was the only example ever heard of in all of Malaysia. The next thought that crossed her mind was ‘Why?’.
It was hard to fathom why this genetic change had happened – why her family in particular had to face it while others did not. It almost felt like a joke. Zuzilawati asked the doctors if there were any other families they had heard of who had experience of BBSOAS, but they had not. She had no idea what to do next, what the best solutions would be for Muhammad, what the outlook was for him. She was told there would never be a ‘cure’ to BBSOAS but that therapies would help with various aspects of the condition that can cause difficulties in vision, hearing and mobility.
Life Today
Today, Muhammad undergoes various treatments and therapies which have helped him to become more independent. He is non-verbal and is currently learning how to walk and to sit without support, through physiotherapy. Like many children who cannot articulate what they want or need through words, he gets frustrated when he’s not understood. As with many mothers, Zuzilawati usually knows what he wants just by looking at his facial expression. She uses key words such as ‘makan’ (eat) and ‘susu’ (milk) with Muhammad and they have their own way of communicating, but it is hard for those who do not know Muhammad to communicate with him verbally.
Muhammad also has partial vision, like many people with BBSOAS. This is an added difficulty when learning to walk as it affects balance and mobility. It adds another level of challenge for Muhammad and his parents. Zuzilawati explained that like many genetic disorders, BBSOAS can affect people in different ways and to different degrees; some people can walk, some can see with glasses, a few are completely blind and using wheelchairs. The majority are able to walk and this gives Zuzilawati hope that Muhammad’s mobility will increase with time.
Finances and The Future – Concerns for Many RD Parents
Most of Muhammad’s appointments today take place at a Malaysian government hospital, which is free of charge. However these are not as frequent as Zuzilawati would like and only happen around once a month which is not enough. She also takes her son to a specialist centre called PDK (Pusat Pemulihan Dalam Komuniti). Muhammad’s school also collaborates with a UKM faculty (Klinik Fisioterapi at Fakulti Sains Kesihatan Kampus Kuala Lumpur) and he is able to have weekly physiotherapy sessions at his school as a result, which is very helpful – this only costs 5 MYR per visit which is affordable for many people.
His parents are thankful that Muhammad does not currently need to have any further surgeries. When he was younger, his ear was operated on, and he may need another surgery in the future to help with liquid behind his ear. Since his first ear surgery, his hearing has improved, but he continues to have ENT check-ups, which are nerve wracking for Zuzilawati as they can sometimes bring new issues to light. Like many RD parents, consultations with specialists are helpful but often daunting as they can result in new treatments or ways of doing things which can have a huge impact on a family’s daily life.
One of Zuzilawati’s greatest challenges today as Muhammad’s mother is staying focused on the here and now. Thinking about the future can be scary. Like many RD parents, Zuzilawati worries about her son’s care after she eventually dies. Who will take care of him? She also worries about the possibility of new health issues developing, which can happen to individuals with BBSOAS. Muhammad faces an increased risk of scoliosis, as his trunk is not strong due to low muscle tone and his back is slightly curved.
The huge financial cost of equipment which Muhammad may need is also a worry for Zuzilawati. She is currently looking for a sponsor to help pay for a wheelchair and other equipment to help Muhammad to walk, as it is too expensive for his family to afford. Some of Zuzilawati’s friends have been helping her to research politicians who may be able to assist, and help from ZAKAT (a religious duty for Muslims who meet the necessary criteria of wealth to donate a percentage of their income to help those in need) is another possibility. A difficulty many RD parents face in applying for funding for assistance, however, is finding the time and the resources to put together the necessary documentation required by organisations offering funds. This takes time and energy; something which few RD parents have. It is a lot of work and a barrier to getting the help needed.
Thankful For The Calm Times
Today Muhammad is clinically stable. His mother is more able to manage her time, and she works outside of the home. Most of the things that cause Muhammad distress today are everyday things that upset most children: feeling hungry or needing a diaper change. To his parents’ relief, Muhammad is generally happy, he enjoys sitting in his baby jumper and can play alone. His older sister also helps to take care of him, and his parents have support from their wider family. They appreciate the calm times.
