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Spinal Muscular Atrophy, known as SMA or Werdnig-Hoffmann Disease is a FATAL recessive genetic disease; that is unknown to most parents at the time of birth; that destroys the nerves that control voluntary muscle movement. This condition is a neuromuscular disorder and a leading cause of death for th ese children. SMA will not allow these children to ever hold their heads up, roll over, crawl, walk, eat, talk, or move their arms and legs. They will lose their ability to swallow, having no control of their own secretions to protect their airway from aspiration. Also, they will continue to develop PROGRESSIVE neuromuscular weakness throughout their bodies and especially severe intercostals muscle weakness resulting in a weak ineffective cough and inability to handle their own secretions. When these children develop a simple cold, it may lead into a respiratory illness. SMA does NOT affect a child’s intellectual ability, in spite of their failing body. Children with SMA type 1, the most severe type, normally die by the age of 2 years.
THERE IS NO TREATMENT OR CURE FOR SMA.
Research is working on treatment to try to keep SMA from progressing and or cure this cruel condition affecting these children.
Family members and or caregivers develop an extensive in depth daily protocol to manage these children in their home to include:
In spite of these best intentions, SMA children still end up in the hospital and at times require intubation and mechanical ventilation for respiratory distress in association with a viral or bacterial lung infection, which may have started all with a simple cold. Because of the fragility of the children a cold may cause catabolic stress and they may never regain their prior level of function. They will also experience reflux and delayed gastric emptying. Once a certain level of weakness is reached, consideration of withdrawal of support may be inevitable.
Reece has participated in a clinical trial study at Stanford University in California. The drug that is being tested for SMA is called HYDROXYUREA. This drug is improving Reece's life and giving SMA a defense from the disease taking over his body. Some major advances we have seen in Reece is his ability in having movement in his hands, arms, neck and head. His smile and facial expressions have not been completely robbed yet by SMA. Reece is currently still taking the drug, which we continue to travel once a year to Stanford for clinical updates.