Gabriel was stable, and we planned more "sprints" on a nasal cannula to see if his muscles are strong enough to wean off the ventilator support.
We were told the the lab test would take 2 weeks, maybe longer; the idea of waiting was agonizing. But today the test result came, confirming Spinal Muscle Atrophy (SMA). We had a long meeting with our team, to talk about SMA symptoms, course, and prognosis. Briefly, SMA happens when we are missing two copies of a gene that makes a protein to keep peripheral nerves (ones from the spine to the muscles) alive; without these nerves, the muscles get weaker. It affects all muscles, starting with arms and legs and later affecting breathing muscles. The brain and senses are normal.
You can read more about SMA at http://www.curesma.org or https://www.mda.org/disease/spinal-muscular-atrophy
Papa and Bubby visited to see Gabriel. We parents fell asleep early and hard.
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