I was born with a rare disease called, Morquio Syndrome. Patients with Morquio syndrome appear healthy at birth. Types A and B have similar presentations, but Type B generally has milder symptoms. The age of onset is usually between 1 and 3 years of age. Morquio syndrome causes progressive changes to the skeleton of the ribs and chest, which may lead to neurological complications such as nerve compression. Patients may also have hearing loss and clouded corneas.
Physical growth slows and often stops around age 8. Skeletal abnormalities include a bell-shaped chest, a flattening or curvature of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists. The bones that stabilize the connection between the head and neck can be malformed; in these cases, a surgical procedure called spinal cervical bone fusion can be lifesaving. Restricted breathing, joint stiffness, and heart disease are also common. Children with the more severe form of MPS IV may not live beyond their twenties or thirties.
Some additional signs and symptoms of Morquio syndrome include a short stature, scoliosis, kyphosis, hypermobile joints, knock-knees, pectus carinatum, misshapen limbs, unstable vertebrae, cord compression, hepatomegaly, hearing problems, vision problems, and heart problems. I have type A and though I have dealt with many of the problems caused by Morquio I have lived a very full life thanks to Mom, Dad, and my brother. Morquio has never been able to stop me pursuing my dreams. I graduated from FAU and I have always strived to go beyond the expectations of Morquio. Two years ago, I was gifted my Service Dog, Gage from Canine Companions. Gage has given more independence as my physical abilities become more limited. We work together to help each other and teach awareness.
As you can imagine a Wheelchair Accessible Van is my only form of transportation as my wheelchair weighs 350 lbs. Dad passed away several years ago and Mom has worked to make sure that I have all that I need to live a productive life. But as she says she and our Van are getting on in years and we need to consider replacing it. The cost is more than she can handle and so I am asking for your support to help buy her a new Van.
Donations to Help Hope Live can ease this financial burden and help me to remain independent.
Family and friends of Nicole Ortiz are raising money for the nonprofit Help Hope Live to fund uninsured medical expenses associated with Catastrophic Illness.
Nicole has chosen to fundraise for Help Hope Live in part because Help Hope Live assures fiscal accountability of funds raised and tax deductibility for contributors. Contributors can be sure donations will be used to pay or reimburse medical and related expenses. To make a tax-deductible donation to this fundraising campaign, click on the Give button.
For more information, please contact Help Hope Live at 800.642.8399.
Thank you for your support!
