Alexis Johnson

Eye care experts provide lifelong support for blind equestrian

When Alexis Johnson, a 22-year-old avid equestrian and resident of Versailles, Ky., prepares to jump with her horse Joey in competition, she is keenly focused on what lies before her. There are no distractions, no nerves and no fear. Everything around her is in shades of gray, and the only sound she hears is the rhythmic pace of Joey’s hooves as he begins to canter.

As Joey jumps over the fence, Johnson feels like she’s flying – a feeling of pure joy and exhilaration. Her limitations are nonexistent.

It doesn’t matter that she is legally blind.

Twenty-two years ago, Alexis’ mother, Lynn Johnson, was standing outside on a sunny day holding her then 8-month-old daughter. She noticed the pupils of Alexis’ eyes were so large that she thought the sun might burn them. Alexis also squinted her eyes a lot in bright light, displayed repetitive rapid eye movements and had one eye that was turned inward.

Lynn took Alexis to a general ophthalmologist but wasn’t satisfied with the lack of answers. She made an appointment with Dr. Julia Stevens, an opthalamologist at UK Advanced Eye Care, for a second opinion.

After several tests to rule out brain injury, an electroretinogram (ERG) confirmed a diagnosis of congenital achromatopsia, a rare hereditary disease that affects only one in 33,000 people in the U.S.

Not only had Lynn found answers, she found a physician who would provide healthcare and support for Alexis throughout her life.

UK provides support after rare diagnosis

An ERG examines the light-sensitive cells of the eye, the rods and cones, and their connecting cells in the retina. When Alexis was tested 22 years ago, a large contact lens was placed on her eye to measure the light responses in her retinas.

“We were fortunate because UK was one of the few facilities to have an ERG,” Lynn said. “The wires that record the natural responses to light showed that Alexis had no response to light. The line on the screen was flat.”

Dr. Julia Stevens

Dr. Julia Stevens

Stevens explains that achromatopsia is an autosomal recessive disease, meaning two copies of a mutated gene must be present in the affected person.

“Both parents must be carriers, and their child will inherit one recessive gene from the mother and one from the father,” Stevens said. “Individuals with achromatopsia have nonfunctioning cones and rely on rods for their vision. Rods do not function well in daylight, thus people with achromatopsia have extreme sensitivity to light, poor color vision and poor central (reading) vision.”

Today, UK Advanced Eye Care has the most technically sophisticated ERG technology available anywhere, offering significant advantages over the prior system. The new ERG machine provides easier testing with comfortable-fitting electrodes that can sit on the skin or on the surface of the eye, highly sensitive and reproducible signal recording, and a large library of tests that can be used to determine problems in the visual pathway to better understand why patients are experiencing vision loss.

UK Advanced Eye Care recently acquired a new, smaller ERG machine that can easily be taken into the operating room and to other locations throughout the hospital to test for diseases of the retina and optic nerve. The current equipment can be used for ERGs on babies and toddlers without having to use sedation, as the system is handheld and can be easily positioned over the patient’s eye during testing.

A lifetime of comprehensive care

At UK Advanced Eye Care, patients can see multiple subspecialists in one location, allowing their complex eye care to be provided by an integrated team.

Stevens says that in Alexis’ care, for example, she had testing through the retinal service, care for her achromatopsia with appropriate eyeglass prescriptions, diagnostic tests by Stevens and a pediatric ophthalmologist, and assistance from the optometry service and optical shop to provide special tinted contact lenses.

As an infant, Alexis was fitted with red-tinted glasses. The red tint is protective of the eyes and filters out light rays, which makes it easier for her to recognize outlines and objects.

After Alexis experienced some bullying in elementary school because of her bulky red glasses, Lynn had Alexis fitted for red contacts, which she said made a big difference. Red-tinted contacts completely seal the eyes so light cannot enter, and Alexis says they’vr made her “feel normal” for the first time.

‘I will find a way’

Alexis has 20/200 vision and is legally blind. She only sees in shades of gray with limited color perception and no fine vision. Even so, she’s confident that nothing in life is beyond her reach because of achromatopsia.

At age four, Alexis learned to play soccer by the sound of the footsteps around her. In preschool, she zip-lined across an open field. She danced her way from first grade through early high school as she learned ballet, tap, jazz and hula. She played the flute in her high school marching band, attributing dance lessons with helping her get into formation relative to other people. She completed high school and attended Bluegrass Community and Technical College.

Her love of horses started when she was 2 or 3 years old and hasn’t waned. Recently, Alexis participated in the American Quarter Horse Congress, which she refers to as the “Super Bowl of quarter horse shows” because of its enormity and level of professionalism. She says the crowds don’t make her anxious or nervous.

“I don’t care about all the people watching me, I can’t see them anyway,” she said. “It’s just me and the horse in the ring. I go in wanting to do my best with my horse as a partnership. It’s not about the ribbons; it’s about having fun and doing the best I can.

“If there is something I want to do, even if it’s hard, I will find a way because it’s always worth it.”

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Sanders-Brown Center researcher awarded grant to study Alzheimer’s prevention

Ai-Ling Lin, PhD

The National Institutes of Health has awarded a five-year, $2.88 million grant to UK Sanders-Brown Center on Aging researcher Ai-Ling Lin to study a drug’s potential to prevent Alzheimer’s disease.

Lin, an assistant professor at the Sanders-Brown Center, hopes to demonstrate that low doses of Rapamycin, a drug commonly used in organ transplantation, can restore brain function and prevent memory loss. Rapamycin is commonly used to prevent rejection of a transplanted organ.

“We hope our research will demonstrate that Rapamycin prompts tangible benefit by preventing the cognitive decline associated with Alzheimer’s disease,” Lin said.

Unique testing methods

Her study is unique in that it will also assess whether a relatively new imaging concept called multimodal MRI is effective in measuring the success of other potential treatments. mMRI uses traditional MRI plus another form of imaging (CT scan or PET scan, for example) to provide complementary information.

“We have two eyes for a reason. You can function with just one, but eyesight is improved when both eyes work well,” Lin said. “mMRI follows the same concept: multiple layers of data increase accuracy.”

Lin will be studying the drug in mice with the gene associated with an increased risk of Alzheimer’s. She will validate mMRI results with biological and behavioral tests to confirm the test’s accuracy.

A win-win

It will be a while before Lin’s research will be ready for human clinical trials, but mMRI as an alternative to other testing methods has the potential for speedy adoption, as the mMRI methods are readily available to be used in humans.

“Being able to test a drug and also a means of assessing other drugs in the future is truly exciting,” Lin said.

Linda Van Eldik, Sanders-Brown director, says that this latest grant is another important step in Sanders-Brown’s race against Alzheimer’s.

“As many as 1 in 5 people carry the Alzheimer’s gene APOE4, so the idea that a readily-available drug already demonstrated to be safe in humans might prevent what is arguably the most devastating and expensive disease in modern history is exciting,” said Van Eldik. “It’s a win-win for science and for the people it serves.”

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UK researcher wins prestigious award to study pediatric cancer

UK Markey Cancer Center researcher Jessica Blackburn, PhD, will conduct innovative pediatric cancer research with the help of a prestigious National Institutes of Health’s New Innovator Award, a grant totaling $1.5 million over five years.

Blackburn, who came to UK from Harvard University in 2015, runs a basic science laboratory using zebrafish as an animal model. This new award will fund research to find causes of leukemia relapse in three ways:

  • Identifying the unique genetic signature of relapse-causing cells, using single-cell sequencing technology in both zebrafish leukemia models and patient samples.
  • Discovering how and where relapse-driving cells “hide” from chemotherapy in the body using live animal imaging techniques in zebrafish.
  • Finding new drugs that can specifically kill the cancer cells that cause relapse by screening thousands of compounds zebrafish.

“The hope for this project is that we will be able to provide new insights into the biology of what causes cancer relapse, not only to find better ways to treat it, but to develop treatment strategies that will prevent relapse from happening in the first place,” Blackburn said.

Zebrafish labs are far less common than labs that use mice as an animal model of cancer, but Blackburn notes that zebrafish models provide important research advantages, which can complement traditional mouse models.

“I think this work shows that zebrafish models of human diseases – like cancer – are being more widely accepted in the medical fields, and that more people are recognizing the important discoveries that can be made using zebrafish,” she said.

The NIH’s New Innovator Award was established in 2007 and supports unusually innovative research from early career investigators who are within 10 years of their final degree or clinical residency and have not yet received a research project grant or equivalent NIH grant.

It’s one of four prestigious awards in the NIH’s High-Risk, High-Reward program, which was created to support unconventional approaches to major challenges in biomedical and behavioral research. Applicants of the program are encouraged to think outside-the-box and to pursue exciting, trailblazing ideas in any area of research relevant to the NIH mission.

“I continually point to this program as an example of the creative and revolutionary research NIH supports,” said NIH Director Dr. Francis S. Collins. “The quality of the investigators and the impact their research has on the biomedical field is extraordinary.”

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elevated calcium

5 things you should know about elevated calcium

Dr. Reese Randle

Dr. Reese Randle

Written by Dr. Reese Randle, an endocrine surgeon at UK HealthCare.

There’s a reason your mother always told you to finish your milk: it’s a good source of calcium, one of the most important and common minerals in your body.

Calcium’s benefits are widespread. It helps keep your bones and teeth strong, and also helps your nerves work more efficiently, your muscles squeeze and relax, and your blood clot.

But what happens if there’s too much calcium in your blood? It causes something known as hypercalcemia, a potentially serious condition that can affect your kidneys, bones, brain and heart. Here are five things you should know about elevated calcium:

1. Your parathyroid glands are the most common culprit.

Parathyroid glands are small glands in your neck that control the calcium levels in your blood. When one or more of these glands stops responding to normal feedback, they can cause calcium levels in your blood to rise.

Other causes of high calcium levels include hereditary disorders, medication side effects, certain infections, inflammatory diseases such as sarcoidosis or, in rare cases, cancer.

2. Elevated calcium can cause a wide range of symptoms.

Traditionally, symptoms of elevated calcium levels were associated with the mantra, “stones, bones, moans and groans,” which refers to kidney stones, osteoporosis, psychiatric disturbances and abdominal pain.

Today, however, elevated calcium and parathyroid disease are usually caught before symptoms progress to that point. Common symptoms today include fatigue (which may be severe and debilitating), low energy, muscles weakness, achy muscles and bones, poor concentration, memory loss, and irritability.

Many of these symptoms are non-specific and can fly under the radar. In fact, many people with elevated calcium levels just feel like they are getting old, which is why the collection of symptoms has also been described as “premature aging.”

3. Symptoms and calcium levels aren’t always correlated.

This observation goes both ways. Some people with very mild elevations in their calcium have pretty severe symptoms, which may include frequent kidney stones or fatigue that prevents them from living their lives.

On the other hand, some people with remarkably high calcium levels have very few symptoms. That can be dangerous too, because in many cases, the bones can be getting weak or the kidneys could be getting injured without the person feeling anything at all.

Everyone handles calcium a little differently, and your body has many tricks to deal with the elevated calcium on its own.

4. Elevated calcium should not be ignored.

Even if you feel well, elevated calcium could indicate that something is wrong. When you have elevated calcium noted on your labs, your doctor will likely want to check your parathyroid hormone level.

A parathyroid hormone level can be tested with a simple blood draw and is the most cost-effective way to evaluate elevated calcium. If it is high, you likely have hyperparathyroidism and should be evaluated by someone who treats parathyroid disease.

If the parathyroid hormone is low, more investigation is needed. Sometimes this involves a thorough family history, a close look at your medications or additional lab work.

5. Surgery is often an effective solution.

If your calcium is elevated from parathyroid disease, removal of the abnormal parathyroid gland or glands can provide a cure.

Surgery is safe and effective and can often be performed in an outpatient setting or with less than one day spent in the hospital. Many symptoms improve almost immediately, while many continue to improve for up to several months afterward. People’s bones also tend to get stronger after surgery.

Some people would rather continue observing their calcium levels until they experience undesirable symptoms. This approach should be undertaken with caution because some of calcium’s effects on the bones, kidneys and blood vessels can be irreversible even in people who do not feel any symptoms.

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Making the Rounds with Dr. Emily Marcinkowski

Growing up around the operating room inspired this cancer surgeon

Making the RoundsOctober is Breast Cancer Awareness Month, and we caught up with Dr. Emily Marcinkowski, a surgical oncologist who specializes in breast cancer, for our latest Making the Rounds interview.

Dr. Marcinkowski joined the Comprehensive Breast Care Center at the UK Markey Cancer Center after completing a fellowship at the City of Hope National Medical Center in California. 

Why did you decide to become a surgeon?

My mother was a scrub nurse, so I kind of grew up going to the operating room and spent a lot of time around the hospital. Whenever she was on call, I was on call.

I really liked surgery because you can really help people and help fix a problem. And I like the relationships that surgeons have with patients. People are very vulnerable when they come in, and you get to develop a relationship with them and truly have a pretty tight patient-doctor relationship.

How do you develop those relationships with your patients?

I really like to listen to them, listen to what their goals are. Women have very different opinions about their breasts. After being diagnosed with breast cancer, some women really want to keep their breasts, some women want to have their breasts removed and some women want to come in, get their therapy and get on with their lives.

It’s very different for each patient, and I think just sitting back and listening to their stories is important. Some patients have a very strong family history of cancer and because of that, their diagnosis frightens them very much. Just hearing that, it helps me individualize their care plan.

What does a typical day away from the office look like?

My husband and I usually go eat someplace new and fun for lunch, and then I usually work out in my garden. We bought a house with about an acre on it, which is more land than I’ve ever had. We have planter boxes all over, and the tomatoes have taken over the world.

And anything on Netflix, we’ll watch.

What’s your favorite food?

Mexican food. Or anything that involves cheese. There are few things that cheese won’t cure.

Check out our video interview with Dr. Marcinkowski, where she talks about the personalized, individualized care that Markey offers patients with breast cancer.

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Choosing a safe Halloween costume

October is here, and if you’re like most parents, you’ll soon be putting together your children’s Halloween costumes. When you do, keep these tips in mind:

Think safety

  • Masks can obstruct visibility and make it difficult for your child to breathe. If you can, opt for makeup instead. If your child does wear a mask, make sure his or her vision is not obstructed so much that they might trip or stumble, and encourage him or her to take it off before crossing the street.
  • Make sure makeup or face paint is non-toxic. Read the ingredients to be sure that your child isn’t allergic to anything in the face paint.
  • Never use decorative contact lenses. They can cause eye infections.
  • Buy costumes that are labeled “flame resistant.” Many people and places will have jack-o-lanterns, candles or other decorative flames out – so be careful.
  • Check costume accessories for safety hazards. Knives, swords or other accessories can often be sharp. If your child could hurt themselves by falling on the accessory, skip it or find something else to use!
  • Make sure the costume fits properly. A costume that’s too big or too small is not only uncomfortable, it can cause your child to trip or fall.

Think visibility

  • Choose a light-colored costume if possible. This makes your child more visible to cars and other trick-or-treaters.
  • Kids can get excited during trick-or-treating and forget road safety rules. Put reflective tape on your child’s costume to help drivers spot them on dark streets.
  • Have your child carry a flashlight or glow stick so they’re more visible. Check the batteries on the flashlight to make sure they will last throughout trick-or-treating.

Think comfort

  • Make sure the costume fits properly. A costume that’s too small can be uncomfortable or even restrict breathing. Too big, and it could be a tripping hazard.
  • Oversized shoes might be a funny part of a clown costume, but they can make walking difficult or even unsafe.
  • If your child wears a cape, make sure it’s not too tight and it doesn’t drag the ground!
  • Make sure costume jewelry and other accessories aren’t too tight around your child’s throat.

Be ready for emergencies

  • Give an older child a cell phone in case of emergency.
  • Put a nametag with your phone number on your children’s costumes in case you get separated.

Remember, Halloween should only SEEM scary. A fun, safe night starts with a good costume.

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Pancreatitis runs in some Ky. families, but new treatment may offer hope

Dr. George Fuchs

Written by Dr. George Fuchs, a pediatric gastroenterologist at Kentucky Children’s Hospital.

The pancreas is an organ that serves two main functions: it produces enzymes that aid digestion and it produces insulin, a hormone that controls blood sugar levels.

When the pancreas becomes inflamed, it can wreak havoc on the body. This disease is known as pancreatitis, and there are two types. Acute pancreatitis can appear suddenly and last for days, and chronic pancreatitis can be life-threatening or persistent.

Although outside factors such as gallstones and alcohol abuse may cause pancreatitis, it can also be hereditary. Pancreatitis is a major health problem, especially in Appalachia where multiple family members often struggle to manage the disease. In my first year working at Kentucky Children’s Hospital, I saw more cases of hereditary pancreatitis than in 14 years at my previous institution.

Signs and symptoms

Symptoms of this disease usually begin before the age of 20 with pancreatitis episodes that can last a few days and include severe symptoms such as vomiting, nausea and abdominal pain. Patients may describe the pain as a “rib-crushing” or “stabbing” sensation in the abdomen. Other symptoms include fever, chills, weakness, fatigue and foul-smelling stool.

Because pain usually worsens after eating, many patients eat less frequently, resulting in unintentional weight loss and malnutrition. Children with debilitating pain may need an extended stay in the hospital. Other complications can arise including diabetes, pancreatic cysts and even pancreatic cancer later in adulthood.

Diagnosis and treatment

Chronic pancreatitis can be diagnosed with blood testing and/or imaging studies like CT scans or ultrasounds. Imaging studies are not as accurate for detecting pancreatitis in children as in adults, and blood tests in chronic pancreatitis might not show any abnormalities. Because of this, hereditary pancreatitis is often underdiagnosed and children reporting abdomen pain might not immediately be diagnosed with pancreatitis.

Treatment varies depending on the patient and severity of the disease. Patients may be given IV fluids and medications for pain or asked to fast to let the pancreas rest. Some patients need to follow a strict diet and take pancreatic enzymes to prevent flare-ups.

Managing pain

Because pain is one of the most difficult issues for children with this disease, medications to control pain and nausea are prescribed. The overuse of opioids has become a crisis in this country, affecting our state particularly hard, so this leaves many children and their parents in a difficult position: trying to find a balance of medication that keeps pain at a manageable level without causing addiction.

In recent years, a relatively new surgery for chronic pancreatitis has offered hope for patients. Known as a total pancreatectomy with islet autotransplantation (TPIAT), the procedure involves removing the entire pancreas, saving the islet cells (which produce insulin) and then re-implanting those cells in the liver, where they take up residence and ideally resume their essential function.

Although the procedure is complex, it can potentially offer permanent relief for many children who deal this painful disease on a daily basis.

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