Young Man’s Music is Good for the Body and the Soul

Chase Cofer remembers the day he experienced the first symptom.

It was a day like any other, with Chase and his sister spending time with their cousins. Chase hadn’t noticed anything was wrong – but his sister did. She pointed out that his arm had been in a fixed, bent position for the entire day.

When Chase tried to straighten his arm, he found that it would not move. His sister and cousins thought he was joking around.

When they realized that he really could not straighten his arm, everyone, as Chase puts it, “freaked out.” The problem was initially diagnosed as a pulled muscle. However, his family found out that something was seriously wrong when he finally made it to St. Louis Children’s Hospital.

“I was nine years old at the time,” says Chase. “By the time that I was 11 or12, my legs were locked up, my other arm was locked up, my fingers were locked up.”

Through recent genetic testing, Chase was found to have a mutation in sphingosine-1-phosphate lyase (SGPL1), which can result in nephrotic syndrome, ichthyosis, facultative adrenal insufficiency, immunodeficiency, and neurologic defects.

Overall, there are only 30 people worldwide identified with SGPL1 deficiency. The individuals, from 15 families, are from Pakistan, France, Spain, Canada, Morocco, Saudi Arabia, Turkey, Iran, Austria, Israel, Serbia and the United States.

“I have a gene mutation,” Chase calmly states. “I’m the only person in the United States who has been reported with it.”

It has been a long road for Chase since that day 11 years ago. Occupational therapy helped straighten his arms. Surgery helped straighten his legs. But he was never able to get his fingers straight. Needing better home therapy for his fingers, he started playing guitar.

Chase has been playing guitar now for two years. “I am self-taught. I just love it. It’s great exercise.” But he also plays guitar because he loves music.

“Music just spreads joy. I’ve learned that I can put a lot of emotion into my songs using the guitar and spread any kind of joy. I like just about any kind of music. I play anything from blues to jazz to rock to rap. Anything you can think of, I will try and play it on guitar. I will try my best at it as I do with everything. I always give it my all.”

Chase recently transferred from Children’s Hospital to Chromalloy Dialysis Center for hemodialysis three times a week. “You know, being on dialysis takes up a lot of time, takes up a lot of your day. Still, I manage to play guitar two hours a day.”

Chase Cofer has a YouTube page called Milk Toof.

Chase Cofer has a YouTube page called Milk Toof.

Since picking up the guitar and composing his own music, Chase has posted 11 music videos on his YouTube channel, Milk Toof. See here for his first video posted in 2016 and another composition, This is Not a Test.

“I’ve written a few songs, but I can’t sing, so I need other people to sing them for me! Actually, my friend Chris and I’m trying to start my own band right now.”

Chase also wants to use his YouTube videos to tell his story. “I want to reach out and find people who have this disease, because there are still people out there who are trying to figure out what they have. They honestly don’t know. I was there once, and I was lucky to find Dr. Megan Cooper, who through a blood test was able to identify my disease. For almost 10 years, I was just guessing. I want others to find their Megan Cooper.”

Dr. Megan Cooper

“Chase is such a great person,” says Dr. Cooper, Assistant Professor of Pediatrics and Pathology and Immunology. “Through all of his challenging medical problems he has retained a positive spirit. “Whenever I see Chase, his first question is always How are you doing? The cause of Chase’s disease was only recently uncovered by genetic sequencing. We are hopeful that now that we understand the mechanism of his disease, we will one day be able to provide a targeted therapy for him and others with his condition.” Dr. Cooper is co-author of the recent publication titled Mutations in Sphingosine-1-Phosphate Lyase Cause Nephrosis with Ichthyosis and Adrenal Insufficiency in the Journal of Clinical Investigation.

Right now, Chase is learning to learn to walk again. “I’ve learned how to walk a few times in my life, but every time, something would happen. In 2016, I was walking probably 20 minutes in therapy, and then my kidneys started to fail.”

Although Chase admits that dialysis has been hard and that he looks forward to eventually getting a kidney transplant, he says that if he had the choice to be someone else, he wouldn’t. “You know, it’s been an honor for me to actually have this disease because I’ve been able to meet so many people and just spread positivity.”

Chase says not many people would view this disease in a positive light. But he does.

“I am someone who can truly handle this. And handle it well.”

KMOV Surprise Squad Visits Jennifer, Dialysis Patient

Jennifer Malson, mother of two, was recently surprised by KMOV’s Surprise Squad. She is part of the Forest Park Kidney Center’s home hemo program. Jennifer’s friend, Kim, nominated her for this special visit, not only to help her friend, but to raise awareness for World Kidney Day and transplants. Check out the story here…and have a hankie or two..or three ready.





WU Nephrologist on World Kidney Day – Prevention

Washington University nephrologist Tarek Alhamad was interviewed by Lisa Hart, correspondent for the morning news show Fox 2 NOW in honor of World Kidney Day, March 8, 2018.

Dr. Alhamad took the opportunity to emphasize kidney health in women, since March 8 also marked the celebration of International Women’s Day.

Dr. Alhamad spoke about kidney problems more likely to occur in women than men, and stressed the importance of prevention and early detection of kidney disease for everyone.

“Kidney disease is a silent disease, symptoms are noticed only after damage has been done to the kidney,” says Dr. Alhamad. “Prevention is the key word here.”

Watch the interview here.


A Nephrologist is The Cooking Doc – #ChangeYourBuds

The Cooking Doc is an online cooking series that features Dr. Blake Shusterman, a nephrologist. He whips up a delicious combo of his knowledge of the kidney and his passion for cooking. Healthy never tasted so good!

Poached fish in olive oil and citrus, yum!

Check out a chicken, squash and kale casserole.



5,000 Kidney Transplants – A Bittersweet Celebration

Left to right are Jason Wellen, MD and Director of Kidney and Pancreatic Transplantation; Dr. Benjamin Humphreys, Chief, Division of Nephrology, Dr. Andrew Malone, Division of Nephrology, Transplant, and Dr. Tarek Alhamad, Division of Nephrology, Interim Medical Director of the Kidney Transplant Program.

The Washington University and Barnes-Jewish Hospital kidney transplant program, one of the largest and oldest in the United States, celebrated a milestone in 2017: The 5,000th patient to receive an adult kidney.

The program began in 1963, with the first living kidney donor transplant performed in 1965. The team generally averages more than 230 kidney transplant surgeries each year: More than half of all the kidney transplants performed in Missouri. In 2017, a record 254 kidney transplant surgeries were performed. Washington University/Barnes-Jewish Hospital is consistently ranked among the nation’s best by U.S. News & World Report for the treatment of kidney disease and was ranked 9th best hospital for nephrology in the U.S. for 2017-2018.

Members of the Barnes Jewish Hospital kidney transplant team and WU Division of Nephrology, Transplant.

“Each of those transplants has a great story attached to it,” says Tarek Alhamad, MD, Interim Medical Director of the Kidney Transplant Program. “We are thrilled to see patients able to go back to work, continue education, do their favorite sport, run a marathon or travel around the world. Basically, patients get their lives back.”

(left) to Office Coordinator Laura Kipper (right) work to make the kidney transplant program a success.

Dr. Alhamad emphasizes that all the members of the kidney transplant team work together for one purpose – to provide the best patient care to kidney disease patients so that they will enjoy a longer and better life. “This is the philosophy of kidney transplant care at our center.”

The center offers innovative and life-saving treatment options that may not be available elsewhere. This includes the use of long-acting immunosuppression medications that have fewer side effects, which results in better patient adherence. Alhamad points out that the center is one of the few centers to monitor donor-derived cell-free DNA (dd-cfDNA), a sensitive biomarker used to assess graft health in kidney transplant recipients.

Drs. Wellen, Malone, Alhamad and Rowena Delos Santos.

More than 100,000 patients with kidney disease are waiting for a kidney transplant. A living donor kidney transplant provides better survival and avoids what could be a long wait for a decreased organ. In the St. Louis area, the waiting time for a deceased organ is approximately three to four years, whereas it can be up to ten years in other parts of the country.

After an intensive post-transplant follow-up in the transplant clinic, patients are seen once a year for the rest of their lives. Alhamad says it is rewarding when patients come in for their follow-ups and talk about how well their transplants are working, how they enjoy not being tied to dialysis, and how satisfied and grateful they are to be living their new lives. “That is the most exciting thing about our work.”

Nurse Practitioner Helen Wijeweera (left) and Brittany Heady, Physician Assistant.

Mary Myers, Barnes Jewish Hospital, and Dr. Venkatachalam.

Devin Wall and Rachel Cody of WU Nephrology work on kidney transplant clinical trials and studies.