Patient Perspective
Where are they now?
A family’s courageous twelve years of both struggle and hope By Joanne Small-Hopkins It’s been 12 years since the personal journey for our family began. Lymphedema-distichiasis syndrome was the diagnosis for my husband, Gy, our son, James and daughter Jenna. At that time, Gy was 32, James 4 and Jenna 2 years. My memories of those times are of struggle, frustration, anger and disappointment. Why us? Why now? How is this possible? What did our future look like?
L
ymphedema-distichiasis syndrome is a rare diagnosis. Her beauty contradicted the image I had created in my mind, of the destruction caused genetic multisystem disorder characterized by swelling of the legs (because of fluid accumulation) by this disease. Our family was fortunate to receive a diagnosis after my persistence to determine and the development of extra eyelashes (distichiasis). Distichiasis can range from a few extra an origin to gather a better understanding of the lashes to a complete extra variety of symptoms. After set of eyelashes. Swelling consultation with local most often affects both physicians and geneticists, legs (bilateral) and usually we learned about our FOXC2 mutation. occurs around puberty. 2010 through 2013 Additional anomalies were stressful years for sometimes associated with our young family. We this disorder include early brought Jenna to Toronto onset of varicose veins, six times for consultation droopy eyelids (ptosis), and three surgeries at heart defects, cleft palate, SickKids hospital to treat abnormal heart rhythm and correct ptosis. Gy and abnormal curvature of Elizabeth Taylor and Jenna Hopkins. was managing vascular the spine (scoliosis). The insufficiencies and lymphedema in his lower legs. syndrome is caused by changes in the FOXC2 gene and is inherited in an autosomal Since that time, we continue to take one day at a dominant pattern. time and try to minimize worry and stress. That’s Since 2011, there is much more education a difficult thing to manage for a mother. Strong surrounding various lymphedema syndromes positive attitudes and gratitude carry us through life and do not destroy our sense of self. From known to physicians and patients. However, there their young ages, my children learned what is remains a low percentage with genetic origin possible and available to us. Over the years, identified. In most cases, symptoms are treated that attitude has defined their confidence and and managed individually and not categorized outlook. If you think everything is possible for in a holistic diagnosis. I can remember Elizabeth you, it will be! As the kids grew, I noticed changes Taylor’s death that same year; it was the first time I saw the face of someone with this same year after year. Jenna is now 14, and James
is 16 years old. An ophthalmologist has followed Jenna and James since they were babies. Jenna has regular follow-ups for eyesight and distichiasis. They are both being followed annually by a general surgeon. The kids have demonstrated vascular insufficiencies in their lower legs. At age 13, Jenna’s feet started aching while standing in one spot and changing grayish/bluish. James’ lower legs visually looked different than Jenna’s. At age 13, he demonstrated more large veins similar to varicose veins. The surgeon noted that some perforator veins were damaged. Perforator veins connect the superficial veins of the legs with the deep veins. To date, neither of the children has experienced swelling. However, James started wearing compression stockings to treat vascular insufficiencies at the age of 14. As of now, Jenna can wait a little longer before wearing them.
Joanne Small-Hopkins resides with her husband and their two children in
St. Philips, NL. She works as an accountant on the West White Rose Project in Newfoundland and Labrador. She proudly supports the Lymphedema Association of Newfoundland and Labrador.
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Throughout the journey, James has said, “Mom, don’t cry; it could be worse. I am not blind and I can hear.” His response was profound. His attitude had less personal impact in that difficult moment because he was mentally prepared. As teenagers, there have been sensitive moments when you don’t want to look and feel different than your peers, but we always pushed forward. Gy was a fabulous example to James. When one feels knocked on your back, you can get up and move forward if you can look up. I have noticed pectus excavatum in both children more pronounced during growth spurts. I expect it to be related to scoliosis associated with this syndrome. The surgeon has suggested no treatment at the moment, as it is invasive and not necessary right now. Today, I believe the psychological impact of a rare disease diagnosis is profound. We must choose positivity over negativity, take every day as a blessing and make healthy daily choices. Attitude and choices increase the quality of life.
We take annual vacations to enjoy one another and to relax and bring life balance. James and Jenna excel in basketball, love their friends, family, and two golden retrievers (Sadie and Daisy), and are doing well in school. My husband is managing his lymphedema well. As one ages, it’s important to listen to your body and adjust your lifestyle. Gy is extremely active, and still plays hockey, but his body reminds him to slow down, elevate his feet, practice deep breathing and get extra rest. Gy wraps his toes and feet with compression bandaging at night and wears the highest compression stockings all day to help reduce swelling. This compression routine is necessary, especially during seasons with high humidity. He closely monitors his blood pressure daily, currently takes high blood pressure medication and takes care to maintain his levels. Today, things can be better. You can live your best moments and scariest moments simultaneously. This summer, I was in the third row of
the Mumford and Sons concert, singing aloud, having a stellar time, when a woman looked back and tapped me on the shoulder. I was in another province, and this woman was the Newfoundland geneticist who had confirmed the diagnosis for my family 12 years prior. I had not seen her since that time. I hugged her and choked up as her presence brought me back to that moment of struggle, fear and anxiety. She asked about the family and wanted an update. Reflecting on the best-ever concert, I realized all my emotions in the third row collided as a life lesson. Seeing her represented my worst fears for my family. Fear is the most subtle and destructive of all human diseases. It kills dreams and hopes and can paralyze you. Instead, we choose happiness and strive for the highest possibility that tomorrow will be better than today. Anything is possible if you believe it will! Be courageous and fulfill all your dreams! LP Editor’s Note: See Joanne’s tips on page 20. Readers can access Joanne’s original story in Pathways Winter 2014 here: tinyurl.com/ Small-Hopkins
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