Kathy Cutright’s rare disease MTHFR needs early identification and testing
Paradigm Health hospice patient Kathy Cutright’s physical disease may have reached a place where it cannot be overcome, but her spirit and voice are as strong as ever. In fact, she seems like quite the warrior. She’s hoping the medical and public communities will listen-up and make changes in basic testing protocol at young ages to save others from realizing too late in life they have a debilitating and rare disease like she does: Methylenetetrahydofolate Reductase Deficiency (MTHFR).
“My case is even more rare as I carry the gene for MTHFR from both parents,” shares Cutright. “When I look back, I was having symptoms for years that I dismissed and that no one diagnosed. If I had known the progression of the disease I had, I could have done so many things so much sooner that would have made a difference in my healthcare journey. My daughter has been tested and she carries the gene as well as does my grandchild. Early testing is a must in the battle against MTHFR.”
Methylenetetrahydrofolate Reductase Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma. The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine. In general terms, blood circulating in the body clots in many locations causing limited blood flow, pain and ultimately shuts down the vascular system. For Cutright, she reached a point where she could no longer walk because of the pain in her legs. Blood clots had almost completely shut down her circulation system.
“The blockages now are throughout my entire body,” Cutright says. “From blockage of my carotid to my femoral artery and beyond, I’ve had 19 surgeries to open-up the blood flow or create bypasses around blockages. Between the ages of 27 and 35, I had four heart attacks prior to my diagnosis. They weren’t sure why my heart was working overtime.”
Tests showed that Cutright’s groin arteries were 99 and 95 percent blocked and led surgeons to place stents in those arteries to re-open blood flow. At that time, she was referred to an oncologist, Dr. Gregory Smith, who made the MTHFR diagnosis through a blood test. Cutright’s daughter helped her find her biological father several years ago. They both underwent DNA testing, and both were confirmed as gene carriers. After connecting with her father and sharing their healthcare journeys, they realized they had very similar symptoms throughout the years that both had struggled to overcome and understand.
“My doctors and surgeons have performed many life-saving surgeries over the years — one more recently required amputation of her leg — but after my last surgery to clean out blocked arteries, the clotting began again within hours. At that point, the doctors knew my body could not survive any more surgeries.”
Understanding that she would not be seeking any more curative treatment for her disease, Cutright, who is now in a wheelchair, says that her general physician Dr. Cynthia Ebini recommended hospice care through Paradigm Health. Their holistic approach to caregiving offered Cutright a unique plan of care centered around alleviating symptoms, pain and stress and providing education and life enrichment programs. Enriching life every day, is something you can be assured Cutright is intent and focused on. Her ability to persevere through this disease’s ravage of her body is proof she is determined to treasure and make the most of her time.
“I have incredible support from friends and family and Paradigm Health has been a proactive and supportive advocate for my hospice care,” Cutright says. “Their social worker has helped me connect with needed resources, my hospice nurse is incredible and together we have finally found the right titration for my pain meds, and I so enjoy visits from the music therapist. These folks have really been with me every step of the way to keep my mind-body-spirit engaged.”
For a woman who has endured so much pain, suffering and a true lack of understanding of her rare disease, Cutright still seems intent on finding the joy in her days and hopes that shedding some light on this devastating disease is something she can do for others.
“Paradigm Health’s hospice care team took over when my disease was no longer treatable,” says Cutright. “I know I’m going to need a strong partner throughout the hospice journey, and they have been by my side every step of the way.”
Hospice Care Through Paradigm Health
Hospice care provider Paradigm Health is a leader and innovator. Hospice care through Paradigm Health offers patients and families a holistic approach to care focused on alleviating symptoms, pain and stress and providing education and life enrichment programs. With a dedication to providing above-and-beyond hospice care, Paradigm Health and our community-based hospice care team collaborate with an individual’s physician to establish a unique plan of care intentional on enriching daily life no matter where patients call home.
Paradigm Health knows that each hospice journey is unique to a patient’s wishes and goals of care. As an accredited hospice care provider, our team can provide the care and resource-based education for patients and families to maximize each day’s quality of life.
For more information about MTHFR visit the CDC at https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html.