03/01/2026
February 28 is Rare Disease Day!
Here is some information about SMARD1 if you are curious about Lucy’s rare disease….
Spinal Muscle Atrophy with Respiratory Distress is a genetic disease that causes chronic respiratory failure and muscle paralysis. It is inherited in a recessive pattern, meaning BOTH parents must be carriers of the gene and both pass on a copy of the mutation to baby for the baby to be affected.
How rare is it? When both parents are carriers, there’s a 25% chance any baby they have will be affected. It is a 1 in 70 million chance of a baby getting the disease. Only about 100 cases have ever been diagnosed, with far less than that surviving today.
It is often confused with a more common rare disease called SMA (or Spinal Muscular Atrophy) but it is actually distinctly different genetically (they are caused by mutations in totally different genes.) That distinction wasn’t made until 1996 when the genetic origin of the disease was understood better. SMARD usually presents with respiratory distress first, then the child gradually becomes “floppy” whereas SMA usually presents as a “floppy” baby who gradually presents with respiratory distress. This distinction is really important to families affected by SMARD because treatments have become available for SMA in recent years and there is none yet available for SMARD. (This is something we have to remind even doctors and others in the medical field and can be quite frustrating.)
SMARD is a progressive disease, which means Lucy will likely continue losing muscle function over time. She could eventually be completely paralyzed. Almost all SMARD patients who survive past one year of age require a trach and ventilator and are ventilator and wheelchair dependent. We are so grateful that we have been able to provide proper breathing support for Lucy with her trach and ventilator, which is so far allowing much more to be possible for her.
Lucy has proven herself to be a fighter on this journey, and we will be right by her side every step of the way! Even though she has dealt with so much in her short life, she is incredibly happy, curious, and full of personality. She shows us every day how much she can do and we are all determined to beat the odds.
