Finding Rett Syndrome Specialists: 5 Tips for Expert Care

Finding Rett syndrome specialists can be hard. Since care for Rett syndrome typically requires a multidisciplinary approach, it can be more challenging to know which specialists you need and how to find them. Depending on where you live, you may or may not have local access to Rett syndrome specialists. Below, we’ll go through tips for helping you find expert care for your child.

1. Understand Who Treats Rett Syndrome

Before we jump into how to find care, it’s helpful to know what type of care you’re looking for. Rett syndrome is a rare neurologic genetic condition. As the syndrome progresses, it primarily causes delays or regression of the child’s development in movement control and coordination, speech and communication abilities, muscle tone, balance, feeding, and breathing. Rett syndrome can also affect other body systems like the skeletal system (bones and joints), the gastrointestinal tract, and the cardiopulmonary system, including the lungs and heart.

Since Rett syndrome affects so many different systems and parts of the body, it’s important to find specialists who can treat each area. Let’s talk about the doctors and therapists who treat Rett syndrome.

Doctors Who Treat Rett Syndrome

Your primary care doctor or pediatrician will likely be the first doctor to recognize and start to diagnose your child with Rett syndrome. They can help you with referrals to other specialists and therapists listed below.

A pediatric neurologist is central to your child’s care as well, since Rett syndrome is a neurological disorder. Other doctors that may be consulted and involved in your child’s care at some point include:

• Gastroenterologists
• Orthopedists
• Cardiologists
• Developmental pediatricians
• Geneticists
• Ophthalmologists
• Physiatrists (physical medicine and rehabilitation specialists)
• Pulmonologists
• Psychologists and/or psychiatrists
• Palliative care physicians

These specialists are part of a multidisciplinary team to make sure all of your child’s needs are taken care of.

Therapists and Others Who Treat Rett Syndrome

Therapists and other rehabilitation support team members are also an important part of the expert care team. Those likely to be involved in your child’s care team include:

• Speech-language pathologists
• Physical therapists
• Occupational therapists
• Dietitians
• Audiologists
• Social workers and/or case managers
• Home health aides

As you begin to develop a network of specialists for your child, it can be really helpful to write or type out a list of all of the healthcare providers to help keep track of them; your pediatrician should be able to help with this too. Now let’s talk about strategies to find these experts.

2. Reach Out to Local Resources

Using the resources you have nearby can be a great starting point. Depending on where you live, you may have a lot of resources, or your access could be more limited.

Local Hospitals

Your regular hospital or medical clinic is a great place to start. You’ll likely already be in contact with a pediatrician about your child’s diagnosis. Pediatricians and primary care physicians can serve as great referral sources and can make recommendations on Rett syndrome specialists to see. Since they’ll be familiar with your child’s medical condition, they can help prioritize which specialists to see first.

Social workers, office managers, referral coordinators, and case managers are excellent resources as well. They often have wide networks of referrals for treatment options as well as community resources. They can also help you with managing appointments, which can take a load off of you as the number of appointments and specialists starts to increase. Reach out to your pediatrician and/or your insurance company to find out if you have access to these resources.

Local Support Groups

Your local hospital or pediatric neurologist may also have or know of support groups. These groups could be Rett syndrome-specific or more general for caregivers and parents coping with their child’s diagnosis. People in these groups have likely had to go through a situation similar to your own and often have additional suggestions on how to find care and support.

3. Use Online Rett Resources To Find Support

The internet can provide you with a plethora of information. You can use specific tools to help you find a Rett syndrome specialist and online community resources.

Resources To Help You Find a Clinic

There are a few online resources that can help you find Rett syndrome specialists near you.

• The International Rett Syndrome Foundation — This organization provides a Find a Clinic tool for National Centers of Excellence in Rett Syndrome that lists clinics with Rett syndrome specialists by state.
• The Rett Syndrome Research Trust — This group has a document listing Rett syndrome clinics in the United States, as well as a list of international clinics.
• Acadia — The manufacturer of trofinetide (Daybue), a treatment that targets the symptoms of Rett syndrome, has also developed an online tool to find a specialist.

Online Caregiver Support Groups

If your local support group options are limited, online groups can be another great resource. Even if you do have access to local support groups, online groups may provide additional benefits. While Rett syndrome-specific local groups may be limited, online groups can open more options. Support groups can connect you with other families who also have a child with Rett syndrome. These families may have additional resources and suggestions for finding expert care.

4. Connect With Statewide Children’s Hospital Systems

If you live in a rural area, you likely won’t have access to a Rett syndrome specialist at your local medical clinic. Specialists often practice in large hospital systems in bigger cities. If you know your state’s large hospital system, you can pull up their website and search directly on there. If you aren’t sure where to look online, you can also find the hospital’s number and call to speak with someone from the hospital. They may know the answer offhand, or they can direct you to the pediatric or neurology department to get more specific answers on the medical staff’s areas of expertise.

If you don’t know the major hospital networks in your state, a good place to start looking is in a major city near you. If you don’t have luck there, you can look beyond nearby cities to the state capital or a city with a large university. From there, you can use the same approach above, searching the hospital’s website or calling the hospital to speak with someone directly. Again, your pediatrician’s office can be a great first place to ask for resources in nearby cities to support you and your child.

5. Travel To Find Care

Unless you live in a big city with access to a large hospital network, you’ll likely have to seek expert care away from home. Traveling for care typically requires more planning, and certain insurance plans can cover some of the travel costs for your child’s care. Let’s talk about what you’ll need to think about.

Tips for Traveling

Before you travel to a Rett syndrome specialist, here are a few key planning steps to consider:

• Coordinate your child’s appointments so they can see multiple specialists on one trip. A social worker or insurance case manager can help with this.
• Contact your insurance to understand your out-of-state and/or travel benefits to ensure you have coverage for these appointments.
• Check with your local medical team and social worker to see if you are eligible for any financial assistance (such as The Assistance Fund or PAN Foundation’s grant program). There are many grants you can apply for to help with travel costs for medical care if your insurance will not cover the costs.
• Coordinate your travel and lodging logistics for the duration of your stay. Local Ronald McDonald houses can provide lodging and meals for you and any family members that need to travel with you for appointments.
• Find the support you need for your home life while you are away (pet care, other child care, house care, etc.).

Finding expert care can require a lot of time and effort, but using the tips above and the support of your healthcare team can help lessen the load.

Join the Conversation

On MyRettTeam, people share their experiences with Rett syndrome, get advice, and find support from others who understand.

What other tools and support have you found to help find your child expert care? Let others know in the comments below.