SUPPORT FOR THE WHOLE FAMILY
Noonan syndrome (NS) impacts every member of the family, not just the person with the syndrome. This section is dedicated to the siblings, parents and other family members of people with NS and their need for understanding, information and support. Following are some resources to help build a support structure, including online groups, guidelines for teens and adults, early intervention, and pediatric nursing services.
- There is a vast and lively community of parents on our Facebook Group. This online support group is there for parents and individuals to ask questions, get answers, find hope and to make new friends!
- Regional Events
- The Noonan Syndrome Foundation (NSF) hosts regional events around the country throughout the year. Regional events are a great way to get to know families with similar experiences in your area. Please visit our events page to learn more.
TEEN & ADULT OPTIONS
Teens and adults with Noonan syndrome (NS) may be faced with many challenges as they strive for independence and explore their options. It’s important for each of us to discover who we are, what our needs are and what choices are available. Because an individual is challenged with a disability does not mean that his or her needs are any different than other teenagers and adults. Everyone needs goals to reach for and a plan to achieve those goals. A transitional plan is a guide for individuals. The plan must include goals and services needed, based on the individuals needs, preferences and skills. The transition process is a complex one with many decisions to be made.
In conclusion, a student with a disability can increase her or his options by having a good transitional plan. The plan must involve the parents and the student, school officials and community agencies that can help facilitate a smooth passing from one phase of life to the next.
College, Career & Vocational Choices
Career choices for individuals with disabilities are more plentiful today than any other time in our history. The career path begins in high school by selecting the courses that match your future goals. While education beyond high school in the U.S. is optional, it has become a necessary investment in future employment and life satisfaction for many people. Over the years, public and private sources of money have been developed specifically to meet this need. College bound students with disabilities may qualify for financial aid through both federal and state programs.
The needs of individuals with disabilities mirror the needs of people in the general community; however, people with disabilities usually have needs that go beyond the normal services provided for the non-disabled individual. They may need unique, specialized supportive services that are provided through state and federal programs. These types of programs provide the disabled individual with expanded access to employment and vocational rehabilitation services, and other related services. The intent of the programs is to enable the beneficiaries to obtain, regain or maintain employment and to reduce their dependency on cash assistance in the future.
Doctors & Clinics
HEALTH & SOCIAL ISSUES
The following are guides to some of the different and critical medical issues that you should be aware of, as well as resources for learning more about each of them.
There have been some reported cases of breathing issues in babies and children with Noonan syndrome (NS). Some of these breathing issues may include laryngomalcia, tracheomalacia, subglottic stenosis and other issues with floppiness in the airway.
Cincinnati Children's Hospital has a world-renown Aerodigestive and Sleep Center that can help in these matters. They can even review your child's transcripts if you live far away, and help your doctors find solutions. For details, please visit Cincinatti Children's Hospital.
It is important to note that some people with Noonan syndrome (NS) have significant bleeding disorders. Please read the following articles on NS and bleeding disorders before any procedure and/or surgery is performed.
The following information is from the article titled Noonan Syndrome: Clinical Features and Management Guidelines:
More than 80% of patients with NS have an abnormality of the cardiovascular system. PVS is the most common. The valve may be dysplastic in 25% to 35% of those with PVS64,–,66 and is often associated with an ASD. Isolated ASDs and partial atrioventricular canal defects are also relatively common. A broad spectrum of cardiac abnormalities has been reported, as noted in Table 5. Approximately 50% of patients with NS have an unusual electrocardiographic pattern characterized by left-axis deviation, an abnormal R/S ratio over the left precordial leads, and an abnormal Q wave. Many patients have mild PVS that requires only periodic reevaluation. If the PVS is or becomes clinically significant, initial treatment is usually pulmonary balloon valvuloplasty, but it may be unsuccessful if the valve is dysplastic. With severe dysplasia, a pulmonary valvectomy or pulmonary homograft may be needed in childhood. The other cardiac defects can be treated in the standard ways.
HCM is present in ∼20% of patients with NS overall but is particularly frequent with RAF1 mutations, 31, 32 and it is variable in severity and natural history. In some infants with HCM the condition resolves, whereas in others it becomes rapidly progressive and may have a fatal outcome. Others develop HCM after infancy. The course may be stable or progressive, or it may improve. Management is similar to that for any patient with HCM and may include the use of β-blocker medications or surgical myomectomy to reduce outflow obstruction.
It is important for adults with NS to have lifetime cardiac follow-up. Left-sided obstructive lesions may develop in adulthood. Pulmonary valve insufficiency and right ventricular dysfunction are potential problems after earlier pulmonary valve surgery. Cardiac arrhythmias have been rare in the limited reports available about long-term follow-up of adults.
The Noonan Syndrome Foundation recognizes that parents and young adults may face difficulties regarding educational and school-related issues. We are working with doctors to create Noonan syndrome specific content that speak to these issues. Until this information is complete, please view the article below:
For a complete list of genetic testing/diagnostic resources in your area, please visit www.orpha.net