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CHARGE Syndrome
Profile
Name : Saad
DOB : 2021
Disorder : CHARGE Syndrome
Baby No. 5 - A Very Different Newborn Experience
Shazwani found out that her son, Saad, had heart problems when she had a detailed scan at 7 months of her pregnancy. Different doctors she saw gave different opinions on the cause and it was only when Saad was born in 2021 that things began to become clearer. As well as his heart problems, he was born with very low oxygen levels, severe gastric issues and voice box issues. He also had hyper-salivation and was also unable to swallow, so could only consume milk via a tube. Saad had some other physical differences including the shape of his ears, toes and spine. At 5 months old, geneticists ran a whole exon sequencing test, which was sent to Korea for analysis. What came back was a diagnosis of CHARGE Syndrome – an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth delays, genital differences, and ear differences. This had happened randomly due to a genomic alteration in the region of chromosome 8, and explained all of the difficulties Saad faced. Saad is his parent’s fifth child, his siblings were all born without rare diseases.
Saad’s breathing difficulties and reduced oxygen levels (at times only 50%), caused his mother huge distress and worry – even with medical help and machinery, it was often hard to raise his oxygen levels above 80%, which is 10% lower than the normal range. During this time, she was very scared for her son and in a constant state of anxiety – at times, Saad’s hands would turn blue. It was impossible for his mother to sleep during the night or to relax for fear that Saad would stop breathing at any point. She needed to constantly check his oxygen levels via the machine they had at home, to make sure the levels were high enough for him to be safe. After some time, the National Heart Institute in Kuala Lumpur fixed Saad’s heart issue, by implementing a stent and bringing his oxygen levels consistently up to 80% (still lower than normal levels).
Trial and Error - Name of The Game for RD Families
Today, Saad’s breathing is still affected due to hyper-salivation and an excess of phlegm, which Shazwani suctions regularly. Initially, she needed to suction Saad’s mouth every hour, including during the night, to make sure that he could breathe. Changing milk formula to a lactose free, high calorie version, has helped reduce phlegm and has allowed Saad to consume more calories and nutrients. This solution was only found after extensive research by Shazwani into what could help her son, and after much input from doctors. Medication has been less effective than dietary changes in helping this issue and it has been a case of trial and error, constantly tweaking things and monitoring to see what works best.
Time has passed and things have improved for Saad and his family since he was born, which is huge relief. Doing many things most families take for granted is still very hard. Nowadays, Saad sometimes does not need his mouth to be suctioned for around 5 hours at a time, and sometimes only once a day, which although still stressful, is far less than when he was first born. This has meant a big lifestyle change for Saad’s mother – she is less anxious about his breathing and less tired now that she can sleep more at night.
Outlook
Saad is currently waiting for major heart surgery – he needs to reach a particular weight in order for his next vital operation to go ahead. Saad is as yet unable to eat solids, and even with the high calorie formula, calcium is not always absorbed by his body – he needs to take numerous supplements, medication and calcium to increase his milk absorbency and nourish him; gaining weight is not easy. Shazwani really hopes the surgery will happen soon. Waiting for it to happen is very daunting, emotional and anxiety inducing – it is a major surgery; no parent can relax when it’s ahead. Saad’s parents do their best to research as much as possible, into what could help their son to gain weight and into phlegm reduction. They feel they cannot rely solely on doctors and they know that they can also help find solutions – as with all RD parents, they know their child best and they are committed to finding out as much as possible about their son’s condition and see what might potentially help him. Shazwani describes how she and her husband had to “become doctors” after Saad’s birth, and equip themselves to protect him from more dangers than most children ever have to face.
Shazwani hopes that in the future we will have a greater understanding of genetics, of why spontaneous genetic changes happen, and of ways to help children with rare diseases, even before they are born. She hopes that scientific progress and our understanding of genetics will continue to improve.
Surviving The Hard Times - An RD Parent’s Toolkit
Shazwani has found that her faith, and her partnership with her husband have both helped her through the very difficult experiences her family has faced due to Saad having CHARGE Syndrome. Working as a team with her spouse gives her essential time out from intense and tiring days – she takes walks and time for herself so that she can go back and give her fullest to her family. Today, Shazwani focuses on keeping hope alive and on doing the best for her child – even when things are hard.
As Saad’s mother, Shazwani naturally feels sadness that her son has already faced so many difficulties due to his rare disease. When it is all too difficult to comprehend, she reminds herself of her belief that children with rare diseases are God’s creations and all we need to do as their parents is to keep going, keep living, and do our best to help them overcome things. Shazwani’s ‘go to’ during challenging times is her faith – she holds onto it and likes the part in the Quran which says that after difficult times, easier ones will eventually follow.
Shazwani also finds it helps to cry – to release everything. After crying she can get up again and do whatever is needed to look after her family. Sometimes, the challenges faced by RD parents are too much to manage alone. Shazwani has found that anti-depressant medication has helped with low moods and anxiety and has been an important factor in maintaining her mental health and wellbeing. It has helped with her mood, sleep, with feeling better generally and also being able to work and do practical things more easily. Shazwani finds that talking to others about how she feels, including her mother and good friends, is also vital for her wellbeing. She knows that not talking about the challenges she faces can be dangerous and isolating, and for this reason she also talks to a psychologist which she finds very helpful in maintaining good mental health.
Leaning On Others Who Care
Shazwani feels fortunate to have support from her family, who help with transportation to the hospital, looking after Saad’s siblings if they are unwell, and other practical things including some financial help with expensive hospital bills. Like many RD families, Shazwani and her husband face a greater financial burden than other families. They have had to budget and manage their money very carefully since learning of Saad’s diagnosis, not least because the medical equipment and medication Saad needs are very costly. As well as having some help from their parents, they hope to receive some financial help from faith based organisations such as Pusa ZAKAT, the government, and by having an OKU card (identification document for persons with disabilities in Malaysia) which helps with general discounts on purchases.
Shazwani thinks that having a child with disabilities has changed her for the better – she has had to become more empathetic. In the past, before having Saad, she was scared to ask parents about their child’s disabilities, now she knows first-hand the importance of talking about it. Now she believes that as a society we MUST ask parents about their children and allow them the chance to talk about rare diseases – it is a relief to do so and important in many different ways. It took Shazwani one year after Saad’s diagnosis to share the news with her friends, and she has only shared more generally about life’s struggles on social media, as well as a photo of Saad. Doing this has felt helpful and supportive and she has been touched by every single kind response she has received from others. She hopes that she will share even more widely and openly about Saad and his diagnosis, once his major surgery is completed. Shazwani also hopes to find a CHARGE Syndrome support group one day and to get to know other parents facing the same issues as her family.
For Shazwani, like many RD parents, it’s important for others to know and understand about her child’s disability and to talk openly about it. She likes it when people ask her about Saad; she wants more people to understand him and to have a greater awareness about rare genetic disorders and perspective around how different the experiences of RD parents are from those of most parents.
