A Blessing in Disguise
As an expectant mother, I was overjoyed with welcoming our new bundle of joy. However, my world came crashing down when I was 36 weeks pregnant. During a routine sonogram, I engaged in small talk with the technician as I always did. The technician looked at the monitor, his facial expression changed drastically, and then he abruptly left the room. My midwife, who was always so jovial, entered the room with a very serious look on her face. She explained my baby’s bones were not growing and suspected this was attributed to dwarfism. I still cannot recall the rest of the conversation. It felt like a ton of bricks just toppled over me. I thought this must be an out of body experience. Although the midwife’s mouth moved, my mind drew a complete blank since she was tasked with the delivery of bad news (that I was determined not to hear). Although I was there physically, I thought the midwife made a terrible mistake and delivered this horrible news to the wrong patient. I left the medical provider’s office eerily calm and cried hysterically inside my vehicle. What quality of life would my baby have? Jade entered this world on August 21, 2007. Once I held her in my arms, all the anxiety, fear, and worries dissipated like a Calgon commercial. I remember the doctor and nurse(s) whisked her away to perform a battery of tests. The hospital is the noisiest place on earth! During our hospital stay, this seemed to be the standard practice. When we were discharged, I was extremely happy.
During Jade’s first wellness check, her pediatrician referred us to a geneticist. (We requested a geneticist recommended by my sibling, a registered nurse). The geneticist explained (in layman’s terms) what constituted an achondroplasia, the difference between an achondroplasia versus a hypochondroplasia, the causes of the skeletal dysplasia, and the importance of genetic testing. He provided referrals for diagnostic testing, a referral to a neurologist, and a barrage of other referrals. We were scheduled to return in intervals to conduct a follow-up. The geneticist encouraged our family to contact Little People of America and the National Organization of Rare Disorders. I contacted neither. I was still in denial and I was mad! I dreaded every office visit because I knew it meant the geneticist would provide us with three or more referrals. (I think every parent of a special needs child would agree: the first year of life is consumed by doctor’s appointments, diagnostic testing, therapy, and balancing one’s career and marriage. It felt like I was running a marathon and the finish line was nowhere in sight). When our family received the results of the genetic testing, it piqued my interest about Little People of America.
When Jade was five months old, her pediatrician recommended therapy services due to poor muscle tone. The pediatrician and I engaged in what I affectionately called the “blinking game.” Once he recommended therapy services, we stared and blinked at each other like two owls. Yet, he was kind enough to remind me repeatedly, like a broken record, that my daughter needed therapy services. Would the pediatrician provide me with a referral or not? Unfortunately, he had no clue how to access therapy services. However, I was very fortunate. My sister worked as a registered nurse at Children’s Medical Services (CMS). CMS is “a collection of programs that serve children with special healthcare needs. Each program provides family-centered care using state-wide specially qualified healthcare professionals.” As the days turned into weeks, my sister became frustrated and submitted the referral through CMS. My sister and I attended the appointment. During our appointment, a healthcare professional conducted an assessment which primarily indicated what my daughter was able to do at her developmental stage and the skills she needed to acquire. (When Jade was a toddler, she was under the care of an endocrinologist who wrote the following on a prescription: “The more therapy services Jade receives the more beneficial it is to her. This is clearly documented in literature.”) Jade is a testament to this. She received physical, occupational, and speech therapy through the Early Steps Program and in the educational setting. She began therapy services at 5 months. Although therapy services through the Early Steps Program was absolutely free, there was a trade-off. Therapy services required me to utilize the Family Medical Leave Act so I could take intermittent leave to meet the therapists in the comfort of my home. During each session, I was actively engaged and established a rapport with each therapist. Each therapist was scheduled at different dates and times. I would ask a barrage of questions and some therapists would leave their materials and allow me to practice the exercises at home. (Although Jade was 9 months old, she was unable to sit independently. She also had hyperlaxity of her legs. She began to walk at the age of 18 month.)
Because my daughter received services through the Early Steps Program, she was able to transition (at the age of 3) to the preschool ESE program governed by the public-school district. I met a wonderful preschool teacher who told me (before I could ever envision it myself) that she could see Jade attending college, living on her own, and having a career. According to the preschool teacher, all Jade needed was a strong support system. This is the day I began to see Jade’s life in a whole different light.
My daughter is in middle school; she participates in the general education curriculum. Jade does not allow her disability to define her. She is very independent and is very much like your typical pre-teen. She is an avid reader and has an unbelievable eye for detail as evidenced by her drawings. The teachers indicate she advocates for herself and is well aware of the accommodations in place to remove any barriers to learning (via her 504 plan). When a teacher is not complying with the 504 plan, she will verbalize this to the respective teacher. If the teacher does not comply, she notifies me immediately to take the next appropriate action. She has many friends that love and support her.
Jade is under a specialist’s care for orthopedic issues. She is closely monitored due to the bowing of her legs and scoliosis. In addition, she was diagnosed with sleep apnea and is under the care of an Ear, Nose, and Throat Specialist. Like most children with achondroplasia, she suffered with middle ear infections and surgical intervention was necessary for the placement of ear tubes. The specialists informed our family that she is very lucky; Jade does not have medical complications which require surgery. Our family is cognizant that this can all change in a blink of an eye.
My daughter has taught me about the art of advocacy and to be resourceful. There is no formal education or training to become an advocate for your child. The driving force for every parent is the undying love for your child and the responsibility to nurture, love, educate, and the desire to foster self-sufficient young adults. (Having a big mouth helps too!) Parents are not immortal. I have attended countless IEP meetings, school conferences, and administrative hearings through Social Security Administration. I’ve learned a very important lesson: policies are fraught with flaws and inconsistencies. Many government programs (such as food stamps, cash assistance, Supplemental Security Income (SSI), and Medicaid) utilize the families’ income and resources to determine eligibility. As a result, moderate income families exceed the programs’ guidelines. There are many children who meet the medical criteria for SSI benefits. However, they are unable to receive disability benefits due to their parents’ income and resources. Although the concept of the “working poor” has evolved over time, many government programs have not acknowledged the working poor. (The working poor is defined as families (single or married) who are steadily employed; however, the family unit is unable to meet their basic monthly expenses ( rent or mortgage, food, utilities, transportation, and childcare). It is critical to be cognizant of the community resources with or without a pandemic.
Although I relied on my faith and my immediate family members to cope with my daughter’s diagnosis, fear of the unknown kept me paralyzed for many years. However, the more I learned about my daughter’s condition, the more empowered I felt. Many families may find it difficult to raise children with rare diseases due to the lack of resources or the bureaucracy to access resources. I hope my personal story will help the parents (of children diagnosed with achondroplasia) to realize they are not alone. Indeed, your decision to become a part of the MAGIC Foundation is an important step in the development of your children’s well-being. My name is Mary and I’m proud to serve as the Division Consultant for the Achondroplasia group.
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