Shining the light on the 1 in 15 people affected by rare diseases, including her own two rare warriors, Mrs. Isaacs tells her own family’s story from diagnosis to treatment.
On Monday the 28 February, the world stood in solidarity with those affected by rare diseases. This worldwide initiative saw over 500 buildings virtually advocating for 300 million people that are affected by a rare condition by lighting up with colours of purple, green, blue, and pink.
In South Africa, 1 in 15 people have a Rare Disease, with 50% of them being children. That’s why we chose to shine the light on Red Cross Hospital’s very own Rare Warriors; brothers Deen (7) and Rameez (3) Keets by speaking with their mom; Mrs. Kulsum Isaacs.
Deen and Rameez both have Hunter’s Syndrome, also known as MSP Type II, a genetic condition affecting only 1 in 100 000 males. With Hunter’s Syndrome the body is unable to properly digest complex sugar molecules. The undigested molecules build up in tissues and organs, causing irreversible damage. There is no cure available, but current treatments are available and are aimed at slowing down the progression of the disease as the life expectancy is between 10 to 20 years of age.
Both Deen and Rameez have been patients at the Red Cross Hospital since 2018. Deen was diagnosed when he was 4 years old after experiencing breathing problems. Mrs. Isaacs then took Deen to an ear, nose, and throat doctor (ENT) to try to get to the bottom of Deen’s symptoms. At this time Mrs. Isaac was pregnant with her third son, Rameez.
The family were then referred to the Medical Genetics team who explained that Deen had stiff joints and a short stature for his age, they carried out multiple tests and a month later Deen was officially diagnosed with Hunter’s Syndrome. The Genetic Counsellors gently informed Mrs. Isaacs that it’s an inherited condition passed on from a mother to her son and advised her that her other sons could also be at risk.
Mrs. Isaacs said that in her heart she already knew the baby she was carrying, Rameez, was affected too. Fortunately, her eldest son who was 9 years old at the time did not have the condition.
Deen has endured 4 surgeries at the young age of 7 while little Rameez has already had 2 surgeries. The whole family’s lives changed overnight, as a couple Mr. and Mrs. Isaacs were had to process the overwhelming diagnosis, adapt, and learn.
The most painful aspect for Mrs. Isaacs as a mother is knowing that her sons are in pain every day, with Deen being on a breathing machine, she doesn’t get much sleep either. This experience has taught her that more than anything she needs to be a friend to her sons.
A mother is the only person that fully knows what they experience on a daily basis, she motivates them to live their lives in a fulfilled manner, open to new experiences because they don’t know how long they have left to live.
The boys often question why they are different, they find comfort within each other, leaning onto their older sibling for reassurance. They use their pain as driving force to push through each day, finding the fun moments and making the most of it.
When asked what she would like others to know; Mrs Isaacs wants people to learn as much as they can about rare conditions, the MPS support group and Rare Diseases SA provides education and support at any time. She says that with the advances in technology today it’s like a second chance for the opportunity to have a healthy baby. If only they knew before having kids that a tiny piece of information in a gene can affect one’s whole body, they would have seen a genetics doctor and it could have been different.
Mrs. Isaacs encourages people in the same situation as her to know that they are never alone, communication and working together is important to provide stability and positivity. She reminds other parents that even though managing a household is a consuming task, be a friend to your kids.
Children didn’t ask for these challenges, they thrust into it. In a society where bullying and suicide is so prevalent, continue to be the light and place of comfort for your kids, they were given as a trust to you from God and all you can do is be a present parent.
Mrs. Isaacs thanks her family for unconditionally walking this journey with her, she is completely grateful to the doctors and nurses at the Red Cross Hospital, the genetics team and Paedspal for the continuous care she receives.