The Cardiovascular Connective Tissue Disorders program offers the following services:
Connective Tissue Disorder Clinic and Evaluation Day
We’re pleased to offer a unique approach to care that is truly parent-friendly and patient-centered. Rather than requiring you to set appointments with several different specialists over several days, then arrange testing required by each, we provide it all in one day. Not only does this mean convenience for you; it means better care. Our experts discuss your child’s unique needs in real time, considering all of his or her symptoms together and then determining the best approach to achieve health and healing for your child.
- Your family is our focal point. To make it convenient for families living outside the area or state, we schedule our large, multidisciplinary evaluation days on Mondays—allowing for easier travel.
- You can help determine the care your child needs. A month prior to your evaluation day, you will fill out an intake form on your child’s health history and current needs. We help you evaluate which doctors to see, according to your concerns and your child’s symptoms.
- A full-body examination and, as needed, genetic testing are performed. If you are questioning whether or not your child has a connective tissue disorder, we perform a thorough exam, evaluating all of your child’s organ systems, and create a score to guide clinical diagnosis. If there is enough evidence, we order appropriate genetic testing to confirm or find the true source of your child’s signs and symptoms. For example, if you come to us because your child’s aorta is enlarged, we will analyze dozens of different genes to determine if it is due to Marfan syndrome or another cause. If your child is newly diagnosed by us, we help guide your understanding of the genetics behind connective tissue disorders, educate you on the condition, and may suggest testing other family members.
Sometimes families are told by providers or relatives that their child might have a connective tissue disorder. Yet that can end up not being the case. Other times, your child might have another syndrome or condition that’s outside of connective tissue disorders. Either way, we will help you find answers. We are happy to provide second opinions on evaluation day or by direct contact via email or by phone at (844) 988-6220 for Marfan and Williams syndromes.
Neurodevelopmental testing for school support
Connective tissue disorders can go beyond the physical. Our program stands out by adding a focus on your child’s psychosocial and intellectual growth and development. Children with connective tissue disorders can suffer from cognitive delays and learning disabilities (including ADHD and autism), requiring an individual education plan (IEP) that works for the child’s learning style. Our recognized neuropsychologist, with expertise in connective tissue disorders, will test your child and provide a comprehensive report that outlines all services and special requirements your child needs to succeed. The comprehensive report can then be shared with your child’s school system.
Medical care coordination
- Organizing your evaluation day. We make your care with us as seamless as possible. You are assigned a medical coordinator who will walk you through scheduling and prepare you for your child’s evaluation day. If your child needs continued studies, such as collecting samples for genetic tests and neurodevelopmental testing, your coordinator will schedule them along with procedures or surgeries as close to your evaluation day as possible. Your coordinator is a first resource for all of your questions before, during, and after your care with us.
- Care throughout your child’s lifetime. Once your child’s evaluation day is completed and initial care is provided, we follow your child throughout his or her lifetime (including adult life), coordinating care with your hometown primary care provider or cardiologist. We like to see your child through the years to ensure that care stays current with the latest treatment philosophies and options. This can be annually, or more or less, depending on your child’s needs and your ability to travel to us.
Patient and family services
While staying with us for care, you are welcome to take advantage of Stanford Medicine Children’s Health’s extensive patient and family services, including social services, child life and creative arts, interpreter services, spiritual care, play and recreation, and lodging.