LIVING WITH MSMDS
Surgical and Other Procedures:
Those affected by MSMDS frequently require multiple surgeries and procedures for repair of anomalies that occur in all affected systems of the body. Repair of large PDAs is required for circulation and cardiovascular health. Aortic widening must be monitored and requires surgical correction prior to dissection. Neurosurgeries may be required for cerebral revascularization depending on disease state and progression. Urinary catheterization may or may not be required for complete voiding of the bladder, and occasionally more invasive procedures are required. Some affected may require procedures to correct esophageal reflux as well as stomach and bowel malrotations.
Treatment in this population is highly variable depending on the severity of each individual. While there is currently no “cure” for MSMDS, medical management is centered on treatments to prevent or minimize potential complications of the disease. Those affected will require frequent monitoring and follow-up with specialty providers that may include Cardiology, Urology, Pulmonology, Neurology, Ophthalmology, Gastroenterology, Ear, Nose and Throat specialists, and Autonomic Specialists. While there is no known cure for the disease, some medications have proven helpful in management of the symptoms associated with MSMDS. In addition, some medications should be avoided to prevent progression of disease. Individual evaluation by a qualified physician is required to make recommendations on what pharmaceutical treatments may be appropriate.
Coping and Support:
Coping when your loved one has been diagnosed with a rare disease can be difficult and overwhelming for both you and your loved one. Common emotions include fear, anger, depression, and anxiety. These feelings may be relieved by reaching out to friends and family for support, finding support groups, or seeking professional help. Social media platforms can aid in finding others who may be able to provide support and understanding and can serve as a platform for collaboration in many specialty groups to include Thoracic Aortic Aneurysms and MSMDS.
There are no clinical trials currently underway in the United States, however, future clinical trials may be monitored at CLINICALTRIALS.GOV as they become available.
The lifestyle and abilities of these children depends solely on severity of disease. Most children are able to lead a relatively normal lifestyle, with activity restrictions due to aortic and vascular disease progression. In more mild cases, they may also struggle with constipation, light sensitivity, fatigue, and temperature intolerance. Whereas children with greater severity may struggle with learning disabilities following strokes, lack of bladder control, or even complete ventilatory dependence.
A recently published GUIDE TO CLINICAL MANAGEMENT has provided physicians with some assistance in common findings, imaging recommendations, and potential treatment options. Due to the rarity of this disease, very few physicians have experience in management and treatment of MSMDS. It is imperative that all members of the child’s healthcare team are aware of current recommendations, and identify the importance of collaboration when it comes to clinical decision making.
LIVING WITH MSMDS
Foundation for Multisystemic Smooth Muscle Disease
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