Treating Rett Syndrome: Clare’s Rare Patient Story

The joy of watching your child grow and meet developmental milestones is not always granted to some parents. Clare’s mother, Allison, described her emotions to CHOP after noticing that Clare was not reaching her milestones as expected. She brought Clare to her pediatrician, and he immediately found several issues with her development.

At age three, Clare even lost some of the motor functions she had gained. At that juncture, Clare underwent a genetic evaluation. The diagnosis was Rett syndrome.

About Rett Syndrome

Rett syndrome, a neurodevelopmental disorder, affects the development of a child’s brain and the child’s cognitive ability.

In time it can affect:

  • Communication and language
  • Muscle control and coordination
  • Hand movements
  • Slowed growth

Clare’s mother, a biology teacher, researched the disease, which directed her to the Children’s Hospital of Philadelphia (CHOP). The hospital is one of fifteen such clinics that the Rett Syndrome Foundation has designated as a Center of Excellence. The clinic was conveniently located one hour south of their home. Allison scheduled an appointment for Clare to be evaluated by pediatric neurologist Dr. Eric Marsh at CHOP’s clinic.

Dr. Marsh specializes in treating neurodevelopmental disorders, specifically Rett syndrome. Consultations by a multidisciplinary group of specialists are one of the latest improvements in the diagnostic process.

Clare was examined by a team consisting of a nurse practitioner, speech, occupational and physical therapists, a gastroenterologist, and a genetic counselor.

Evaluation and Treatment

Rett syndrome cannot be cured. Clare’s team’s first effort was to find out how the disease was affecting her and then develop a treatment plan. The team implemented developmental intervention therapy with the goal of helping Clare reach her full potential.

Their mission was to begin managing Clare’s symptoms as early as possible.

Ongoing Treatment

Clare is currently on a program that includes physical therapy, which is designed to improve movement. She participates in water therapy and is scheduled to begin hippotherapy, which uses horseback riding to accomplish therapeutic goals.

Clare is currently non-verbal but still works with speech therapists in an effort to improve her communication skills. After Clare had a communication evaluation she began working with an eye-gaze device.

Clare’s Future Outlook

Even with an experienced team and optimum care, Clare still faces health issues resulting from Rett syndrome. Clare is now five years old but only weighs thirty pounds due to her difficulty in gaining weight. She also has gastrointestinal and sleep issues. To date, Clare has not lost any of her motor skills. This is an indication to her team that she will remain ambulatory. However, she still faces the risk of seizures.

Allison joined a Facebook support group for families of children with Rett syndrome. Allison credits the group and especially the information provided by Dr. Marsh and his CHOP team with being able to manage to live with Rett syndrome. Brendan, Allison’s husband, and other members of Clare’s family agree that the knowledge they have received is invaluable.

And what about Clare?

Every day is filled with challenges for Clare. Allison describes her as a sweet little girl who loves to receive kisses and hugs. By all appearances, Clare seems like a happy little girl riding her bike, swimming, and just enjoying outdoor activities.

Researching Rett Syndrome

CHOP researchers are focusing their efforts on finding the gene mutations responsible for Rett syndrome. Dr. Marsh is using technologies that track neurological function thus paving the way for novel therapies.

The CHOP center participated in a Rett syndrome study funded by the NIH that fulfilled enrollment in 2021. Clare was enrolled in this study and also in a Phase III trial to potentially treat the neurobehavioral symptoms of Rett syndrome.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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