When Sarah was born with Down syndrome in 2000, her mother Sylvia read a book that was a guide for children with Down syndrome. Throughout Sarah’s childhood, this book, which was published in 1995, served as a beacon, helping her family understand and navigate some of the unique challenges they faced – from childhood open heart surgery to refining fine motor skills. It wasn’t until 2018, when Sarah was diagnosed with a corneal condition, keratoconus, that they had to retire the book and look elsewhere for answers.

Establishing a Routine

As a small child, Sarah underwent unrelated eye surgery and wore glasses for years to correct her nearsightedness. With her complicated eye history, Sylvia was diligent about Sarah receiving alternating annual ophthalmologist and optometrist exams, ensuring she had optimal eye health.

In 2017, Sarah received a trendy new pair of glasses and an updated prescription from her visit with an optometrist. In 2018, Sylvia realized it had been a while since Sarah had last seen an ophthalmologist, so she made an appointment.

Not a Routine Visit

At the appointment, the doctor noticed something wasn’t right. Concerned about the shape of Sarah’s cornea, the ophthalmologist ordered additional testing and found that Sarah was living with keratoconus in one of her eyes. Keratoconus is a progressive eye disease in which the normally round cornea thins and begins to bulge into a cone-like shape.

As an 18-year old high schooler with Down syndrome, Sarah never complained about her deteriorating eyesight. This was surprising news for Sylvia as she was not aware that her daughter was having trouble with her vision, despite Sarah’s strong communication skills.

This diagnosis came as a shock to Sylvia since she had never heard of the condition, and during Sarah’s last visit with the ophthalmologist in 2015, the condition was not present. After hearing her daughter had keratoconus, Sylvia immediately consulted her book, where she found one page on the condition. The only treatment option listed was a corneal transplant.

Thankfully, the doctors gave Sylvia a pamphlet that explained keratoconus in more detail than her book had. The sheet noted that children with Down syndrome are more likely to have the condition and highlighted additional treatment options such as cross-linking. As for the next steps with respect to treatment, Sylvia and Sarah were referred to a corneal specialist.

Meeting the Corneal Specialist

A few weeks later during an appointment with corneal specialist Dr. Rajesh Rajpal at See Clearly Vision, the previous ophthalmologist’s suspicions were confirmed through a second corneal topography test. Sarah was living with keratoconus, not only in one, but both eyes.

Dr. Rajpal explained that 5-15% of people with Down syndrome also have keratoconus. While Sylvia didn’t know this, their previous ophthalmologist had likely been monitoring Sarah’s eyes for progression since she was a child. Upon reviewing her records, he confirmed that when Sarah had been last seen in 2015, the condition was not present. However, Sylvia began wondering if this condition could have been caught sooner had Sarah returned for a check-up the year before, on the recommended two-year interval, rather than three by mistake.

Marching Past Diagnosis

Sarah and Sylvia were eager to hear about available treatment options, other than a corneal transplant. With her passion for playing clarinet in the school marching band, they didn’t want keratoconus to affect what she loved to do. Dr. Rajpal recommended they consider FDA approved corneal cross-linking, the first and only therapeutic treatment that stiffens the cornea to slow or halt the progression of keratoconus to preserve vision, and worked with Dr. Christine Tagayun to help educate Sylvia and Sarah about the treatment. While it was difficult to understand the procedure at first, and after discussing the benefits and risks, Sylvia knew it was important to stop the progression of the disease and decided to move forward with scheduling the procedure. She knew it was the best treatment option for Sarah.

In August 2018, Sarah underwent cross-linking in one eye and about a month later in the other. Each time, Sarah walked fearlessly into the office with her Spiderman doll in hand – remaining calm and still for the duration of the procedure. Maintaining her signature cheery disposition before, during, and after the procedure, the team began referring to her as “The Mayor of the Office,” leaving everyone with smiles on their faces.

Both of Sarah’s procedures went smoothly, and once she returned home, she used her prescribed eye drops and wore a patch at night to prevent her from rubbing her eyes. All of Sarah’s follow-up appointments went well, and Sarah continued to wear her glasses for a few months post-procedure.

A few weeks post-procedure, Sylvia and Sarah were faced with the decision to choose either glasses or contacts. Despite past success with glasses, their new optometrist at See Clearly advised that Sarah would most likely see better with hard contacts called scleral lenses that rest on the sclera, the white outer layer of the eye. During the visit, Sarah made it clear that she wanted contacts. However, knowing her daughter, Sylvia decided that she wanted to wait a little while before moving ahead to make sure Sarah was not just trying to please the doctor with her choice.

Looking Ahead

Finally, in the Spring of 2019, Sarah was fitted for scleral contact lenses. While putting her lenses in is a join effort, Sarah is able to get them out on her own and she is very motivated to wear them. Every morning, Sylvia helps Sarah put in her contacts and brings her to school ready to learn and perfect her clarinet skills at band practice. Even though the contacts have made her vision clearer, Sylvia has Sarah bring her glasses everywhere for backup and she wears them whenever she takes her contacts out.

Now, Sylvia is dedicated to spreading awareness about the prevalence of keratoconus in children with Down syndrome, hoping she can help other families detect the condition early on. As treatments advance, it is important for parents to find updated resources, although Sylvia swears she will never throw-out her trusty book, even after all these years.

2020 Update – Sylvia recently reported that Sarah has been learning to put her lenses in by herself with the help of a special stand. Way to go, Sara!

Dr. Tagayun is a paid consultant for Avedro.

 

Find a Corneal Cross-Linking Specialist Near You

Search the directory to locate a corneal specialist who is familiar with treating progressive keratoconus.

 

 

The results described on this site are based on data collected regarding short-and intermediate-term efficacy of treatment. Individual results are not guaranteed and may vary.

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