Their vigilance was the reason that Sinclair’s eyesight had never been a cause for concern. She enjoyed 20/20 vision throughout her childhood, a fact that brought relief to her parents, both of whom wore glasses. Annual trips to a pediatric ophthalmologist, a two-and-a-half-hour drive each way, consistently yielded positive results. However, as Sinclair got older, a seemingly minor comment from a college instructor set them on an unexpected journey that highlighted the importance of vigilance and specialized care for people with Down syndrome.
“One day, Sinclair really wasn’t seeing the board well,” Kimberly recalls. Initially, this had been thought of as a simple misunderstanding. After all, a routine eye appointment just six months prior had revealed no issues. It wasn’t until three years later that the diagnosis finally came: keratoconus.
A keratoconus diagnosis presented an entirely new set of challenges for Kimberly and Sinclair. Keratoconus, often abbreviated to “KC”, is a non-inflammatory eye condition in which the normally round dome-shaped cornea progressively thins causing a cone-like bulge to develop. This results in significant visual impairment.1
The cornea is the clear window of the eye and is responsible for refracting most of the light coming into the eye. Therefore, abnormalities of the cornea severely affect the way we see the world making simple tasks, like driving, watching TV or reading a book difficult. In its earliest stages, keratoconus causes slight blurring and distortion of vision and increased sensitivity to light. These symptoms usually first appear in the late teens and early twenties. Keratoconus may progress for 10-20 years and then slow or stabilize. Each eye may be affected differently.2
In addition, an estimated 5%-30% of people with Down syndrome are affected by keratoconus. That’s why it’s extremely important to raise awareness of keratoconus in this community and to be aware of the potential signs and symptoms.3
“Of course, the prospect of losing your vision would be horrible for anyone,” Kimberly notes. “But for those with intellectual disabilities, each and every one of your senses is like a lifeline. I couldn’t risk her losing that.”
The initial news was crushing and didn’t reveal a lot of obvious solutions. The ophthalmologist mentioned the need to “train” Sinclair not to blink in order to be eligible for a future procedure that would halt the progression of her keratoconus. This would be a significant challenge, as individuals with Down syndrome often have different blink rates. “I left that appointment feeling devastated,” Kimberly says. “The timing couldn’t have been worse. It was 2020 and the world was becoming significantly less responsive as it began to grapple with the onset of the COVID-19 pandemic”.
Finding care became an uphill battle. Stanford, where Sinclair received other medical care was an option, but they didn’t offer corneal cross-linking under anesthesia, a crucial consideration for Sinclair. Cross-linking is a minimally invasive procedure that strengthens the cornea and slows or halts the progression of keratoconus. For many people, it’s performed while they are awake, but for those with intellectual disabilities, anesthesia is often necessary for an effective and comfortable approach. Corneal crosslinking (CXL), also known as corneal collagen cross-linking (CCL, or C3R), is a minimally invasive procedure that strengthens the cornea. Corneal crosslinking has been used to prevent the progression of corneal ectasia, such as keratoconus and post-LASIK ectasia.4
Corneal Cross-Linking is a non-invasive treatment therapy for Keratoconus. It involves the placement of specially formulated riboflavin drops that are then activated with UVA light. An exam under anesthesia was scheduled if data points from these exams/procedures were unreliable or unable to be obtained in the clinic. Most patients tolerated CXL well without significant postoperative complications, and no eye that underwent CXL progressed to hydrops.5
Kimberly and Sinclair persevered, contacting UCSF and UC Davis. With the pandemic-induced slowdown making it nearly impossible to get timely responses, Kimberly resorted to some creative methods of outreach including sending faxes with pictures of Sinclair to the hospitals, determined to get her daughter the care she needed. Finally, after six long months, Dr. Indaaram at UCSF responded, marking a turning point in Sinclair’s keratoconus journey.
Dr. Indaaram not only provided expert care, but also offered crucial information that other professionals had overlooked. She explained that if keratoconus was present in one eye, it was highly likely to present in the other. This proactive approach allowed them to schedule procedures for both of Sinclair’s eyes, streamlining the process and ensuring medical coverage.
Sinclair’s procedures were just a few months apart and the results were remarkable. Not only did the progression of keratoconus halt, but Sinclair and Kimberly both felt her vision had even improved slightly. Improvement is not always the direct goal of cross-linking which primarily aims to stabilize the cornea, but it can occur when the procedure helps to flatten the cornea.
Overall, CXL has demonstrated to halt the progression of the disease clinically and in keratometry readings and improve the quality of life for patients.6 CXL halts KC progression by strengthening and stabilizing the collagen lamellae, resulting in corneal mechanical stiffening. This can reduce the irregular astigmatism caused by corneal chemical instability and therefore improve refractive errors while also avoiding further corneal steepening.7 Keratometry readings demonstrate a flattening in Kmax as well as improvement in ocular aberrations after crosslinking.8, 9
Sinclair, now 27, wears glasses for a slight vision correction in her right eye, but the cross-linking has stabilized her vision significantly. The need for further interventions, such as corneal transplants, which can be complex and challenging to access, seems unlikely.
Since her procedures, Sinclair has seen a significant improvement in her quality of life and is back to doing the things she loves. She works at a bridal shop, where she can now clearly see the beautiful dresses she’s helping brides pick out every day. She also takes part in a lot of public speaking, especially to school classrooms.
“I like to bring marshmallows to the class so that the audience can put them in their mouths and try to talk. That’s what talking with Down syndrome feels like,” Sinclair says. “I want to be able to show them how different my life is than theirs, but at the end of the day, I want them to see that I still love being me.”
Community is a huge part of Sinclair’s life. In 2015, she and her mom founded a local yogurt shop that only employed people with intellectual disabilities. It was a wonderful place for these people to come learn marketable skills and work together to create a warm environment that the neighborhood loved.
On top of working directly in her neighborhood, Sinclair is also very active in the Down syndrome advocacy community, regularly attending conferences and events like the National Down Syndrome Congress. Since her keratoconus diagnosis, Sinclair and her mom say that the resources made available to them through the connected Down syndrome community allowed them to find the treatment they needed, but there is always room to speak up. “I wish I had known how prevalent of an issue this could be for Sinclair,” said Kimberly. “Sinclair and I tell everyone we can about her diagnosis and journey through treatment. I hope we can encourage even one person to learn more about it and take proactive steps toward early diagnosis.”
Sinclair’s story underscores the importance of proactive eye care, especially for individuals with Down syndrome and other intellectual disabilities. Kimberly now actively shares her experience in Down syndrome support groups and online forums, emphasizing the need for early detection and intervention. She encourages parents to be vigilant and informed, highlighting the increased risk of keratoconus in this population.
“I feel a little guilty that we didn’t catch it sooner,” Kimberly admits. However, her advocacy is now preventing other families from experiencing similar delays. She praises the Adult Resource Center on Facebook and the National Down Syndrome Congress for raising awareness within the community.
The experience also highlighted the importance of finding a specialist experienced in working with individuals with intellectual disabilities. Dr. Indaaram’s approach, including offering anesthesia for the cross-linking procedure and communicating directly with Sinclair, made a significant difference.
Sinclair’s experience has not stopped her from living a full and active life. She attended community college, participates in public speaking engagements, and works at a bridal shop. Her ability to see clearly is crucial for her daily activities, especially her love for writing and using her iPad.
This experience has transformed Kimberly into a passionate advocate for eye health within the Down syndrome community. Her message to other parents is clear: prioritize regular eye exams, be aware of the increased risk of keratoconus, and seek out specialists experienced in working with individuals with intellectual disabilities. Early detection and intervention, as Sinclair’s story demonstrates, can make a world of difference.
Sinclair’s story is a testament to the power of early intervention and the importance of advocating for your child’s health. By raising awareness about keratoconus and its prevalence in the Down syndrome community, Kimberly hopes to empower other families to ensure their children receive the timely care they need to maintain clear vision and live full, vibrant lives.
References
- About Keratoconus Eye Disease - Treatment/Causes/Symptoms https://nkcf.org/about-keratoconus/
- About Keratoconus Eye Disease - Treatment/Causes/Symptoms. https://nkcf.org/about-keratoconus/
- Importance of Early Detection | Living with Keratoconus https://nkcf.org/about-keratoconus/
- Corneal Crosslinking FAQs: Common Questions and Answers | Keratoconus Group https://www.keratoconusgroup.org/2023/11/corneal-crosslinking-faq-questions-answers.html
- Corneal Cross-Linking May be Feasible in Both Adults With Developmental Delay and Children - American Academy of Ophthalmology [https://www.aao.org/education/editors-choice/corneal-cross-linking-may-be-feasible-in-both-adul]
- Comprehensive review on corneal crosslinking - PMC https://pmc.ncbi.nlm.nih.gov/articles/PMC11034691
- https://pmc.ncbi.nlm.nih.gov/articles/PMC11034691/#R27
- https://pmc.ncbi.nlm.nih.gov/articles/PMC11034691/#R28
- Comprehensive review on corneal crosslinking - PMC https://pmc.ncbi.nlm.nih.gov/articles/PMC11034691
Courtesy of Glaukos, focused on eye health and treatment.
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