A Personal Story of the Progression of SMA in a Child

Debbie and Ron talk about the experiences of their 8 year old son Dylan with Type II SMA.

Debbie: So Dylan’s SMA has progressed right at this point, he's eight, he's going to be eight in November. He sort of has plateaued since about the time that he was five, I would say. When he was born, he was born a normal, healthy baby. He had normal APGAR scores, the works and then around the time -- he was formally diagnosed at eight months. Ron: Nine months. Debbie: Eight, nine months and then around the time he was 14 months old he developed the flu, which resulted in aspiration pneumonia and he did lose a lot of function after that. Ron: Absolutely. Debbie: His neck weakened. Ron: His neck weakened. His swallow weakened. His breathing it was apparent that his breathing weakened and we had a long stretch air where at night we had a lot of resuscitation to do. So a lot of suctioning to clear his throat and nurses screaming and running out because they were afraid things were going to happen so it was not a good time. Debbie: A lot of cough assist treatment, constant cough assist treatments. So that year between one year and two years was very difficult, very, very difficult for him. The progression was rapid and we had to learn quickly how to do his cough assist treatments, the BiPAP, suction, feeding pump, feeding tubes, everything. Ron: So that one time we took him to the hospital and we ended getting him ""trached."" Debbie: Well he -- yeah, his last major hospitalization was right before his second birthday and aspiration pneumonia, went through weeks on BiPAP, off BiPAP, on BiPAP, and then we had to make a split decision on whether or not to trach him because he was failing extubation too many times. Ron: Yeah, he had coded in the hospital at the PICU and they actually had to pull his tooth, one of his front teeth out to actually try to intubate him, but his neck was too swollen. They finally were able to do that and they were terrified to actually extubate him. So at 3 o'clock in the morning, we already knew what we were going to decide. We had been educated pretty well by the doctors -- what the options were and we decided that's it, let's just go with the trach and let's not extubate him until we're ready to that. So, the doctors there got the right doctor to do it. She performed surgery and two days later, he was on a vent and trach.

Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Type 2, Type II, neurodegenerative, complication, respiratory, skeletal, scoliosis, pneumonia, nutrition, pneumonia, surgery, antibiotics, brace, physical therapy, occupational therapy, gastrointestinal, gastronomy, G-tube, BiPAP machine, cough assist, PICU, intubate, extubate, tracheotomy

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