Updated: Jan 29
Journey with Jacob
Sunday 26th February
Lap of the tan followed by BBQ on the Yarra
We are inviting all members of the SKOB community to participate in a Fun Run around the Melbourne Tan followed by a BBQ on the Yarra together. The event is raising funds for Jacob Ray, nephew of Saints Teah Stepan, and grandson of Louise Stepan (Golds Team Manager and Meals on Thursday nights).
Jacob has been diagnosed with the rare genetic disorder Spinal Muscular Atrophy (SMA). Any donation if possible is greatly appreciated. Following a lap of the Tan a BBQ will be provided along the banks of the Yarra.
Donations can be made directly to:
Account is voluntary, confidential and people give if they want.
Brooke and Blake welcomed Jacob Ray into the world on Wednesday the 27th of July 2022.
At Jacob’s 6-week appointment with the family GP the doctor noticed Jacob's lack of movement and strength in his limbs. After many appointments, scans and blood tests, Brooke and Blake received the life-changing news on October 11th that Jacob had been diagnosed with Spinal Muscular Atrophy (SMA).
SMA is a rare genetic disorder that affects the part of the nervous system that controls muscle movement. Jacob has been diagnosed with SMA Type 1, considered the most severe type, historically SMA type 1 babies would not see past their second birthday. SMA causes the weakening of muscles, specifically around their immature respiratory system, causing difficulty swallowing and breathing. There is no cure for SMA and is still the number 1 genetic killer in children under 2.
Fortunately there has been some advances in modern medicine in recent years, and there are now a few SMA treatment options available in Australia.
On October 14th at 11 weeks old Jacob had his first treatment of Spinraza. Spinraza is delivered directly into the Central Nervous System via a lumber puncture, Jacob was required to have 3 sessions just 2 weeks apart, the 4th one month after and then 4 monthly for the rest of his life.
Brooke and Blake had planned to give Jacob a second treatment option called Zolgensma. Zolgensma is a gene therapy that creates the missing gene. It is given via infusion and is a once of treatment. There are many side effects to this treatment that they manage with prednisolone. Jacob was due to have his gene therapy on the 9th of December but unfortunately he became ill. Jacob was admitted into The Royal Childrens Hospital ICU on November the 27th with breathing issues, later that day he tested positive to RSV which lead to pneumonia and his right lung to collapse. He has been put on a ventilator and will have to fully recover before we can consider the gene therapy.
Jacob has a massive road ahead of him and although they are receiving NDIS funding any donation will help towards any future therapy, equipment needed to help Jacob live a more manageable life and to assist with the financial burden of the day to day expenses.
Thank you all so much x