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We recently spoke with the Connor family, whose youngest daughter Brynn has Rett syndrome, about their inspiring fundraising efforts to help find a cure for this condition. Since Rett syndrome can cause nutritional issues that make it difficult to achieve adequate intake for growth, Brynn uses a feeding tube that delivers Nestlé Health Science Compleat® pediatric formula to help her gain weight. Here, we chat with registered dietitian Mary Miranowski to learn more about Rett syndrome and the role nutritional therapy has in managing it.
Q&A: Rett Syndrome

What is Rett syndrome?

Q&A: Rett Syndrome

Rett syndrome is a neural or movement disorder. Sufferers are born with the condition and it exclusively affects girls. Babies with Rett syndrome usually progress normally for the first 12 to 18 months of life, but at some point their development slows down. That’s exactly what appened in Brynn’s case. Symptoms vary but some of the most common ones include: inability to speak, breathing problems, seizures, anxiety, digestion issues, and difficulty with motor skills.

Q&A: Rett Syndrome

Do we know the cause of Rett syndrome?

Q&A: Rett Syndrome

In 1999, scientists were able to isolate the gene that causes Rett syndrome, MECP2, which means we now understand what causes people to develop Rett syndrome. The cause of Rett syndrome is considered a random mutation, meaning family members do not inherit it.

Q&A: Rett Syndrome

 

The mutation only occurs on the X chromosome. This is why Rett syndrome exclusively affects girls. Boys with the gene often don’t survive since they have one X chromosome and lack the extra X chromosome that can help protect their bodies from being completely overcome by the disorder.

Q&A: Rett Syndrome

How is Rett syndrome diagnosed?

Q&A: Rett Syndrome

There is a genetic test as well as physical and neurological evaluations performed by a physician. Because there is now a genetic test, the rate of diagnosis will likely increase.

Q&A: Rett Syndrome

How common is Rett syndrome?

Q&A: Rett Syndrome

Right now, Rett syndrome affects about 150,000 girls globally which makes it a rare disease. It is as prevalent as cystic fibrosis, Huntington’s disease, and ALS, but somehow, it is less well-known, something the Connor family is trying to change.

Q&A: Rett Syndrome

Has a cure for Rett syndrome been found?

Q&A: Rett Syndrome

As of yet, there is no cure for Rett syndrome, but there are a variety of treatments that can help make life a little easier for girls with the disease. Now that the genetic cause has been discovered, research can focus more intently on finding the cure, so there is a lot of hope.

Q&A: Rett Syndrome

 

Q&A: Rett Syndrome

How is Rett syndrome treated?

Q&A: Rett Syndrome

Treatment really centers on trying to help the child manage the symptoms using methods tailored to their specific circumstances. This can include medication, occupational therapy, nutritional therapy, or hydrotherapy.

Q&A: Rett Syndrome

Can nutrition help?

Q&A: Rett Syndrome

Nutritional therapy is important in the management of Rett syndrome. The quality of life for any girl with the disease is going to be maximized if we can do everything possible to improve their growth, which in turn affects their activity level and their functional abilities.

Q&A: Rett Syndrome

 

Getting enough calories is key, but it can be difficult for people with Rett syndrome because of gastrointestinal issues. This is why feeding tubes and specialized nutritional formulas, such as Compleat® pediatric formula, can be so helpful in certain cases.

Q&A: Rett Syndrome

The Connor family uses Compleat® pediatric formula as part of Brynn’s nutritional therapy. Where does that fit into Brynn’s diet?

Q&A: Rett Syndrome

The Connor family uses Compleat® pediatric formula at night to make sure Brynn gets the nutrients she needs. This nutritionally complete formula is made to include a variety of real food ingredients such as peas, peaches, and carrots. Compleat® pediatric formula often serves as a convenient alternative to blenderized, homemade tube feedings.

Q&A: Rett Syndrome

It must be very challenging to start a child on tube feeding regimen. How did the Connor family manage it?

Q&A: Rett Syndrome

Kristen and Shawn struggled at first, particularly when the tube needed changing. But with the help of nurses at the hospital and even Brynn’s school nurse, they were able to get the hang of it. Nestlé Health Science has created a great website, MyTubeFeedingKid that can be an important resource for parents of tube-feeding kids.

Want to help find a cure for Rett syndrome?

Visit The Rett Syndrome Research Trust for more information.