Living with 3q13, Lians journeyCrowdfunding
Lian Verwey is two years old and one of the most unique children in the world as he was recently diagnosed with 3q13 Deletion Syndrome €“ Lian is the only registered person with this syndrome in South Africa.
A 3q13 deletion is a genetic condition that occurs when there is a small piece of genetic material (DNA) missing from one of the 46 chromosomes €“ chromosome 3. The genetic change usually affects development, and sometimes health and behaviour as well. But how much it affects individuals, and the ways in which it affects them can vary alot.
Lian was born on 29 December 2014 into a family consisting of his parents, Ryno and Mandy, as well as his siblings Ryno Jnr and Mieke. It was a very traumatic day as he was born with a hole in his heart, which caused that no blood was circulated to his lungs. He spent most of January 2015 in intensive care. It was discovered during the next few months that he did not produce enough Myelin, which is essential for the proper functioning of the nervous system. At 13 months Lian was not even able to sit on his own. So many problems followed, including respiratory difficulty, muscle weakness and incoordination, poor muscle tone, swollen kidneys, skin eczema, bad indigestion and the list continues€¦ After an unthinkable amount of tests and doctor appointments, Lian was only diagnosed with the syndrome early in 2017. The diagnosis was an enormous breakthrough as we now know what we are dealing with and which challenges to expect in future.
Lian will have special needs for his entire life and even though the medical aid offers some assistance with medical tests, there are so many expenses where they do not offer support. This is placing his family on severe financial strain. We would like to share with you what his needs are, hoping you will reach out to Lian and offer some support in any way possible.
- He needs regular Stem cell therapy. He blooms after having Platelet-Rich Plasma (PRP) therapy. For optimal results Lian needs this therapy every second month.
- He suffers from Hydro nephrosis - a condition where both his kidneys are swollen as a result of a build-up of urine inside them. He needs a horribly expensive scan called a VCUG to determine the extent of the problem.
- He needs special milk, very special milk that is imported from the US.
- He suffers from skin eczema and can really do with another visit to a Dermatologist as the current ointments and treatments offer little relief and not long lasting at all.
- He has undergone BDA (Biomechanical Developmental Approach) therapy. Therapists teach parents specifically designed techniques to assist with severe developmental impairments. It works wonders, but the sessions and equipment comes at a cost.
- Lian has joined weekly classes to assist with things normal children do without thinking. The sensory integration (SI) therapy uses play activities to change how the brain reacts to touch, sound, sight and movement.
- Due to the fact that Lian is growing older and bigger and he is not able to walk, specialised equipment such as a special gait trainer, car chair, stroller, etc. is becoming a reality. Ryno and Mandy move him where ever he has to be but soon he will be too heavy to carry.
Even though Lian is confronted with this rare and challenging syndrome, he is unbelievably brave and is fighting every day to get through the many challenges.
The family currently need to get R120 000 for the equipment he currently requires.