Carson City teacher speaks out about battle with rare disease during HCU awareness month
Submitted by Kelsey Penrose on Wed, 10/16/2019 - 12:12pm
Everyone knows that October is breast cancer awareness month, but did you know that October is also homocystinuria (HCU) awareness month? Not many have ever heard of the disorder. I definitely hadn’t when I was diagnosed with the condition in April of 2011.
I was a special education teacher with the Carson City School District until I had a stroke at the age of 46. Seven years later, I was finally diagnosed as the oldest living person in the worldwide HCU community with the rare genetic disease.
Homocystinuria is an autosomal recessive disease. This means that each parent must contribute a specific gene in order to have a child born with the condition. If not diagnosed early, it can result in many disorders of the eye, skeletal, nervous and vascular systems.
It’s prevalence in the United States is estimated at 1 in 200,000 people, however, in other parts of the world such as Qatar and Ireland, it’s prevalence is much higher.
Disorders of the eyes include ectopic or dislocated lenses. By age 8, if not previously diagnosed, most people with homocystinuria will experience this. Other impairments can include retinal detachments, severe myopia, and glaucoma.
Skeletal problems can include osteoporosis, scoliosis, pectus excavatum (sunken chest) or pectus carinatum (pigeon chest) and knock knees. These symptoms can often occur from a very young age. Many patients are misdiagnosed as having Marfan’s syndrome, which shares similar characteristics.
Impairments in the nervous system include intellectual disabilities, seizures, as well as psychiatric and behavioral disturbances.
Affecting the vascular system, thromboembolism, can be one of the causes of early death in undiagnosed HCU patients.
Symptoms can vary widely among those with HCU, which can make diagnosis a challenge. I am one of the lucky ones. I struggled with many aspects of this disease including multiple eye issues, wore a back brace for scoliosis, and had a stroke and several blood clots in my lungs. I must have a guardian angel looking over me, because I somehow survived everything before my diagnosis. HCU is now tested as part of newborn screening in all 50 states, but not all cases are caught. Sadly, It’s not uncommon for young children to develop life threatening complications.
Colbie was just 3 years old when she had to be care flighted to Seattle with a massive blood clot in her brain.
At 9 years old Zak, became an “angel in the outfield” after dying due to complications of his disease following a baseball practice, leaving his family devastated.
I am speaking out about homocystinuria because I believe it is important to raise awareness of this disorder. Through my own research and perseverance, I found out about HCU before it was too late. Now, through a low protein diet, medications and a special metabolic formula I am doing well and on the road to better health. If patients are diagnosed in infancy, they can often avoid many of the harsher aspects of the disease and lead rewarding and productive lives.
Visit HCU Network America here: https://hcunetworkamerica.org/ for more information on homocystinuria.
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