October is homocystinuria awareness month, also | NevadaAppeal.com

October is homocystinuria awareness month, also

Pam Penrose
Special to the Nevada Appeal

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 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 one of the oldest living persons 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 the condition is not diagnosed early, it can result in many disorders of the eye, skeletal, nervous and vascular systems. Its 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, its prevalence is much higher.

Disorders of the eyes include ectopic or dislocated lenses. By age 8, if the condition has not been 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 and 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. https://hcunetworkamerica.org/colbie-cayle/ At 9 years old, Zak became an “angel in the outfield” after dying due to complications of his disease, leaving his family devastated. https://hcunetworkamerica.org/gavin-and-zak/

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.

For more information on HCU, visit HCU Network America at https://hcunetworkamerica.org/