KaelynKaelyn was born full term and nothing wrong was diagnosed at time of birth.
Into her 3rd month, she still cannot hold up her head. Thinking she might be slow in development, we were not too concerned.
However during her routine, Her paediatrician was concerned and recommended us we got her checked. We got her check and tested by a neurologist.
She was diagnosed with Spinal Muscular Atrophy (SMA) Type 1 when she was about 4 months old.
SMA is a neuromuscular disease. It affects primarily the motor neurons in the brain stem and spinal cord. These neurons help convey electrical and chemical signals to and from the muscles.
The gene affected is the survival motor neuron gene (SMN1), which is responsible for creating a protein necessary for the motor neurons to work. In SMA, the SMN1 gene is mutated or missing. This creates a lack of the protein, causing the motor neurons to degenerate and die off.
Without the motor neurons to signal the muscles cells, the muscles are not used and they atrophy. This causes the muscles weakness in SMA.
This muscles weakness affects all forms of muscle in the body.
For Kaelyn, she is not even able to hold up her head. She has never sat up on her own or crawl on her own.
The muscle weakness also affects feeding and breathing.
This aspect of SMA is what creates the most severe complications. They cannot swallow properly, with the risk of aspirating (liquid entering the lungs).
Combined with a weak cough and breathing, chest infection is common. The already weak breathing is compromised by the inability to cough well enough to clear secretions and mucus in the airway.
Most SMA Type 1 kids die from chest infection or pneumonia, with an average life span of 2-3 years.
Social MediaThis blog serves as a reminder of the growing up days of Kaelyn, her treatments/therapies and of course mostly importantly things that made us smile.
We also have an instagram account, which daddy always spam with Kaelyn's photo.
Through other blogs of other special needs family, we learn about ways we can do to make our little girl's life better.
We ourselves are not well versed in any treatment or therapy. But if any content here is able to help anyone looking for any help. GREAT! just drop a note and say hi.