The story of Pruiney
Jayson was born in 2016. And just like his two older brothers, he was a healthy, happy baby. With no family history for any unique genetic disease, Jayson never underwent any genetic screening and did not exhibit any conditions that would make us suspect anything would be wrong with his health. He hit all the milestones babies are supposed to and at 13 months, he started to walk independently and with no support as normal.
But as time passed, he was not progressing and started to waddle. He was not able to run, jump or rise from a sitting position by himself at around the age children his age are supposed to. It became obvious there was a problem with his leg and we sought multiple medical advice.
Eventually, we were given the heartbreaking diagnosis he had the genetic disease Spinal Muscular Atrophy (SMA). We had never even heard or encountered anyone with SMA and were scared for our son. We were told SMA was a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord and impacts the muscle used for essential body functions such as breathing, eating, crawling and walking. As it is a degenerative disease, it meant that not only was Jayson not able to develop normally any further but in time, his muscles would weaken and eventually lose his strength and ability to function and care for himself. All-round, the prognosis seemed bleak.
At the time of Jayson’s diagnosis, we were also pregnant again. We were then informed that one of every four pregnancies we had, could result in our child having SMA. So while still trying to come to terms with his condition, we had to prepare for the possibility our next child could also have it.
We are so grateful to connect with “Wecare Journey”, a non-profit organization for SMA families in Malaysia. We get the emotional support, updates on latest the information about SMA and connections to other families which greatly lifts our despair. They also want to help advance access to treatments, medical breakthroughs and compassionate programs by pharmaceutical companies to Malaysian families. With the help of Wecare Journey, we were able to have our newborn baby tested for SMA within her first month and result came back negative!
2016 was the best year for every SMA family. The first ever treatment for SMA was approved by FDA. This life saving drug would not cure SMA, but could delay or stunt the progression of the disease (which for an SMA child – can change the projectory of his/her entire life!). The drug would improve the quality life of the patient and the entire family as caregivers. There are also a few other drugs that are in the pipeline of approval and their makers are recruiting patients for their trials.
Sadly, Jayson could not get any one of those treatments due to their price tag and access to the country. It does break our heart when we hear him ask why he cannot walk as fast as his siblings.
But even so, we want him to have the best possible quality of life and to keep walking. We are still thankful that Jayson’s diagnosis comes with available treatments and we won’t lose our hope in one day getting the access to the treatment because “A diagnosis defines a lot of things, but it doesn’t define love”.
*Find others with SMA on RareConnect, the online platform for people affected by rare diseases