Category: Down syndrome

Down syndrome · Lyra's Latests · Parenting & Family

Vision Center without optical care loses sight of patient needs (Part 2)

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I recently wrote about the Vision Center at Akron Children’s Hospital and pointed out that, no matter how excellent the Vision Center’s eye surgeons and optometrists are, the center abandons their patients in the last mile of care. 

Glasses designed for the general population rarely fit patients with atypical facial anatomy. Compared to typical children, my daughter Lyra’s facial features are clustered closer together, the bridge of her nose is extremely flat and her ears are closer to her eyes. All of which is common in people with Down syndrome, which she has. 

Frames exist for a variety of different facial structures, but few eye doctors carry those lines. That’s because, unlike the patient population at the Vision Center, most eye doctors have few patients who need specialized frames.

Akron Children’s Hospital takes all insurance, but most community eye doctors do not. Lyra’s primary insurance is Medicaid. Her secondary insurance, Children with Medical Handicaps (CMH), is provided by the state of Ohio but only for specific diagnoses. Lyra’s CMH covers her vision care, but because so few providers are approved by the state to accept CMH, and with no optical services at Akron Children’s, we’ve never been able to use it for glasses. (Ohio’s government does not consider Down syndrome a medical handicap and, therefore, care related to DS is not covered by CMH.) 

Lyra began wearing glasses at age 3 when it became too difficult to change her contact lenses. Her first frames were by a company that no longer exists, Miraflex. They were designed for the small nose bridges of babies and young children, making them ideal for young children with DS.

We purchased them at Adolph Optical, a family-owned Akron business. Adolph Optical is a good option for many and they participate in programs that help un- and under-insured patients. They do not, however, take Lyra’s insurance, and her glasses are incredibly expensive. Her prescription is +22 diopters, which means her lenses are too thick for cheaper, but heavier, glass lenses. The thick lenses bulge out of the frames, making it easy for them to get scratched. The best anti-scratch coating is also the costliest. Finally, as most of us over the age of 45 well know, multifocal lenses cost much more than single-focus lenses. Lyra’s specialized bifocals typically take between six weeks and three months to make and cost over $500.

The Eye Site in Copley is the only local optometry practice I have found that takes Lyra’s Medicaid plan, Buckeye Community Health. Buckeye contributes a maximum of $130 per year for glasses. As a small provider, Eye Site has not been able to obtain state approval to accept CMH.

After months of searching, I found an optometry practice in Alliance that takes CMH and drove there with Lyra and her prescription to pick out frames. But when I arrived, I learned that the practice does not take Medicaid. A patient’s primary insurance must first be billed by the same provider before CMH will accept a claim. 

After Lyra outgrew her Miraflex frames, I ordered a pair of frames online and took them to the Eye Site for lenses. But because her lenses are so heavy, they frequently popped out of the plastic frames, and one eventually broke. An optician who regularly works with high prescriptions would have steered me toward wire frames.

Wire frames usually have a screw holding the lenses tightly in place and nose pads that help accommodate tiny nose bridges — though Lyra’s glasses still slide halfway down her nose. I keep a jar of replacement nose pads because they frequently fall off and the spikes they are attached to cut into Lyra’s face.

I also have a jar of silicon sleeves for her frames’ temples. As the temples of most frames are too long for Lyra, I snip the ends with wire cutters and re-bend them to fit around her ears. The flat end of the temples, designed for comfort, are lost in the shortening process. The silicon sleeves help minimize pressure and protect her skin from the cut ends.

In response to my prior column, an ACH employee who works with the Vision Center’s patients sent an email that underscores ACH’s disconnect between excellent medical care and the functional application of treatment: “I have a difficult time understanding why you would not continue to make appointments with the remaining pediatric ophthalmologists at Akron Children’s Hospital and possibly travel elsewhere for optical services.”

They make it sound so simple.

Think of the families less fortunate than I with children who need specialized glasses. A single mom who may have to take off work and use public transportation to get to ACH. Once her child’s eyes have had excellent medical care at the Vision Center, she then has to figure out where to go to get glasses. What are the chances she’ll get them soon, if at all?

The practice nearest to ACH that offers optical services and accepts both Medicaid and CMH also has ophthalmologists who are just as excellent as those at ACH. That would be UH Rainbow Babies and Children’s in Cleveland.

We are fortunate to have a superb children’s hospital in Akron. But why would I get my daughter’s prescription at one hospital only to take it to another hospital for fulfillment when I can do everything in one location? Sadly, that one location is not Akron Children’s.

This was first published in the Akron Beacon Journal on Sunday, April 28, 2024.

Down syndrome · Lyra's Latests · Parenting & Family · Uncategorized

Akron Children’s Hospital needs the vision to add optical care (Part 1)

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Rainbow Babies and Children’s Hospital has it. Nationwide Children’s Hospital has it. Even Dayton Children’s Hospital has it. Akron Children’s Hospital, however, does not. What is lacking? An optical department in its Vision Center.

During my pregnancy with my now 11-year-old daughter, Lyra, non-invasive testing revealed nothing unusual. With eyes scrunched shut, Lyra cried loudly at the moment of her birth. I took her in my arms and when she opened her eyes, I saw what the testing had not. “Her eyes look Downsy and her pupils are milky white,” I said.

Dr. Richard Hertle with Holly Christensen's daughter, Lyra, who’s wearing Miraflex frames, in 2018 before she had a procedure under general anesthesia at Akron Children's Hospital.
Dr. Richard Hertle and Lyra, who is wearing Miraflex frames, before an exam under general anesthesia at ACH in 2018.

The first weeks of Lyra’s life were a medical whirlwind. Children’s Hospital’s Genetic Center confirmed that Lyra has trisomy-21, the most common form of Down syndrome. That same week, Dr. Richard Hertle, an ophthalmologist at Akron Children’s Vision Center, diagnosed Lyra’s bilateral cataracts. Her lenses were surgically removed one at a time at ages six and seven weeks. Until Lyra’s diagnosis, I was unaware cataracts could occur congenitally. In the typical population, only one third of 1% of babies are born with cataracts. In the Down syndrome population it is 3%, also a small number.

Unlike cataract surgery for adults, synthetic intraocular lenses (IOLs) are not implanted just after a baby’s lensectomies. Eyeballs grow until age 20, with rapid growth occurring both immediately after birth and again at puberty. Furthermore, studies show that IOLs implanted before the age of 5 significantly increase a child’s chances of glaucoma.

I quickly came to trust Dr. Hertle. When asked details about the surgeries and eye anatomy, he became as animated as a kid at his own birthday party. During her two lensectomies, he installed scaffolding in her tiny eyeballs for the placement of IOLs, should she need or want them at a later date.

After her eyes had healed, Lyra wore contact lenses that when viewed in profile looked like alien space ships —discs with a sizable bulge in the middle. But as she got older (and stronger), changing Lyra’s lenses became difficult. I would hold Lyra tight while one Vision Center technician used a speculum to hold open her eyelids and a second technician changed the lenses.

When she was 3, we all agreed that changing Lyra’s contacts was too traumatizing and switched her to glasses. With no natural lenses, Lyra’s prescription is +22, and the lenses of her glasses are very thick. She wore Miraflex frames, a then widely available brand designed for the small nose bridges of babies and toddlers. They also work well for young children with Down syndrome, as they typically retain small nose bridges throughout life.

Miraflex is no longer an option. In 2020, the brand was acquired by the eye frame mega-conglomerate Essilor Luxotica Group, which promptly discontinued the line. Other brands, including Specs4Us and Erin’s World, also are designed for the unique facial features of people with Down syndrome. But it is a struggle for parents of children with a variety of special vision needs to find these, or other well-fitting, truly functional, frames.

And here’s why: Your local eye doctor does not have many patients with Down syndrome or other diagnoses that require specialized frames, so they are unlikely to carry them. Also, most optometry and ophthalmology practices do not accept Medicaid, which they must in order for a patient to use the Ohio Department of Health’s secondary state medical insurance, Children with Medical Handicaps (CMH). A pair of glasses for a child like Lyra can easily cost more than $500.

The Vision Center at Akron Children’s Hospital does their patients a gross disservice by not having an optical department. Unlike the offices of most eye doctors, the Vision Center’s patient population has an abundance of children who need specialized eyewear. And, like most children’s hospitals, Akron Children’s accepts Medicaid and CMH.

When I first wrote of this glaring optical oversight back in 2018, a team member of the Vision Center reached out to tell me that they would offer frames when they moved to their new location in the Considine Building in 2019. Yet as of today, the Vision Center still lacks optical care.

Lyra wore Miraflex frames for about four years. When she outgrew them, I began buying frames online and modifying them. Nose pads help keep the heavy lenses in front of her eyes, though it’s never as perfect as the frames designed for small nose bridges. And because the stems of frames designed for a typical child are too long for children with DS, I cut them with wire cutters, cover the sharp ends with silicone sleeves and re-bend them to fit around her ears.

On April 1, a letter from the Vision Center informed us that Dr. Hertle had retired two days earlier. Lyra has an army of support for her Down syndrome needs at school and through private therapies. But I have counted on Dr. Hertle alone for her medical eye care. I was shocked when I read the letter and momentarily felt panicked. However, change brings with it opportunities. I would never have left Dr. Hertle’s care. But as he’s no longer at Akron Children’s, we now will make the trek to Rainbow Babies and Children’s for truly comprehensive vision care.

This was published in the Akron Beacon Journal on Sunday, April 14, 2024.

Down syndrome · Lyra's Latests

Alzheimer’s research in people with Down syndrome benefits all

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The first year of my daughter’s life felt like graduate school on all things Down syndrome (DS). Shortly before her first birthday, I attended the Down Syndrome Congress annual convention where I learned about many interventions and supports that would maximize her potential to live a full — and possibly independent — life. 

Holly Christensen:SAIL program a great success in Akron Public Schools

At that 2013 convention, I knew several other mothers. We had met on a Down Syndrome Diagnosis Network’s closed Facebook group for mothers. The groups are organized by the ages of their children with DS. Many of us were meeting each other, as well as many of our babies, in person for the first time. 

Information, while powerful, can also be intimidating. With a panicked look on her face, a mother approached me in a hallway and told me she’d just learned that our children would inevitably develop dementia in their 50s.  

In one moment, everything I’d envisioned for my daughter’s life suddenly felt like a large steamship moving out to sea, getting smaller and smaller. 

The life expectancy of a baby born with Down syndrome in the 1980s was 25. Today it is 61 and continues to climb. As the number of people with Down syndrome living into old age increased, it became evident that 80% to 90% of those older than 50 exhibited signs of dementia. 

In the same four decades, research on Alzheimer’s has increased substantially, including in the DS population. We now know that by their 40s the brains of people with DS will have acquired the pathologies, or physical changes, for Alzheimer’s (such as amyloid plaques) with most becoming symptomatic in their 50s. 

I recently interviewed Dr. Elizabeth Head, a neuropathology core co-investigator at the Alzheimer’s Disease Research Center at University of California Irvine. While she collaborates with researchers studying Alzheimer’s in the general population, her research is focused specifically on the Down syndrome population. 

This win-win approach, in which anything learned about Alzheimer’s by either research team benefits everyone, is encouraging. But what about treatments unique to people with DS? Will today’s research yield treatments and therapies that will minimize my daughter’s likelihood of developing dementia? 

Dr. Head’s answer is a cautiously optimistic yes. Her team and others are conducting longitudinal studies, in which volunteers with Down syndrome participate for many years, discovering relevant data that are the building blocks for future treatments.  

Using biomaterial from the DownSyndrome Achieves biobank at Cincinnati Children’s Hospital Medical Center, the many scientists in Dr. Head’s team look for biomarkers to identify who is on the trajectory to developing dementia and — just as important — who is not. Only the DSA biobank is open to all qualified researchers and not specific to one institution. 

Dr. Head’s observational studies, as well as others occurring around the world, suggest that 10% to 15% of people with DS are resistant to dementia even when the brain pathologies associated with dementia are present. 

“Knowing which brain proteins may be involved, we can then perhaps develop interventions and some of those interventions will be more effective based upon the age of the person,” Dr. Head said. “What works for someone in their 40s might not work well for someone in their 30s.” 

In recent years, scientists have determined that the brain remains plastic throughout our lives, including in old age. This means that there isn’t an age for which potential interventions for improved cognition should no longer be studied. 

Perhaps the best news from Dr. Head is that just because a family didn’t begin interventions for their loved one with DS as a baby or small child does not mean that person is on a trajectory for something bad later.  

Many studies looking at treatments for Alzheimer’s in people with DS are occurring now, with more in the works. There is great promise that in the coming decades a diagnosis of DS will no longer mean that dementia is nearly inevitable.  

There is also a growing body of research that, as with the general population, lifestyle choices can minimize the likelihood of a person with DS developing dementia. These lifestyle choices, which can be implemented today, include a nutritious diet, exercise, rich social interactions and continuous learning.  

Dr. Head encourages families to include simple exercises like walking daily, eating nutrient-rich foods and having adults with DS continue to learn new skills. She suggests taking classes, such as cooking (another way to increase healthy meal options) or learning to play an instrument. 

“Nothing should be held back from people with Down syndrome,” Dr. Head said.  

The donation of biomaterial of people with Down syndrome, such as blood, is modestly painful but significantly impacts the work of Dr. Head and her team as well as other DS researchers around the world. I strongly encourage people with DS to donate biomaterial for this and other research.  

Families know how hard their loved ones with Down syndrome work from the first day of life. Their levels of cognition and independence have the potential to be maintained throughout life by supporting the important and exciting research occurring today. 

This was first published in the Akron Beacon Journal on Sunday, December 11, 2022.