As the mother of a young daughter with a rare condition, Sarah Y. was faced with feelings of isolation, fear, and hopelessness. Like most parents of children with rare diseases, Sarah felt unsure of where to find support and how to connect with others who would understand the multitude of issues and emotions that rare diseases can bring to light. NORD connects patients and patient advocates every day through programs like RareConnect™ and our regional patient meetings.
Read as Sarah describes, in her own words, her journey after the birth of her “rare kiddo” Madilyn to find a community of “Rare Moms” who support each other every day.
In the spring of 2010, our family moved from Nashville, TN to Birmingham, AL. This was to be the culmination of years of hard work and schooling for my husband, and for me a chance to enjoy our two children. My husband was wrapping up his residency, and I was finally quitting my full-time position as a postdoctoral student to become a full-time, stay-at-home mom.
I met Michelle the first spring we were in Birmingham. She was beautiful inside and out, and carried herself with such grace that I would have been jealous if she wasn’t so amazingly kind-hearted. When we met her children, I was even more inspired by her life. Her youngest daughter, Melissa, has alopecia. And yet, as Michelle put it, they “owned it”. They don’t shy from the reality of the disease; they don’t waste time by dwelling on her diagnosis, they live.
Less than a year after our move, our third child, Madilyn, was born 5 weeks early and immediately taken to the NICU with respiratory problems. We struggled and stumbled our way through those first weeks. We felt blindsided after our previous easy and healthy births. At some point during the first month of Madilyn’s time in the NICU, Michelle and a dear friend whisked me away for an afternoon pedicure to escape the harsh reality of having my family split between hospital and home. It was then that Michelle told me about her friend Jeannie. Two of Jeannie’s daughters had been diagnosed with the rare disease Gaucher’s, but with the advancements of medicine, regular replacement of their missing enzyme meant they would live wonderful and fulfilling lives–Medicine is amazing! Hearing Jeannie’s story and the medical advancements for rare diseases of the past 30 years gave me hope for the first time since Madi was born.
A short time later, Madilyn was finally given a diagnosis. We were informed she had congenital central hypoventilation syndrome. It is a rare disease with an estimate of 800 to 1000 patients in the entire world. Mutations of the Phox2B disrupt the growth and function of the autonomic nervous system. The primary symptom is the inability to sense hypoxia or hypercapnia–low oxygen levels or high co2 levels. In other words, my daughter didn’t sense the need to breathe. In fact, every time she got tired or fell asleep her respiratory efforts weren’t sufficient to keep her alive. After trying to digest this information, and what it would mean for Madilyn’s future, I joined cchsnetwork.org to find a community of support.
On a very lonely night, when I was feeling most desperate for a connection, I literally pored over the directory looking for the family that lived closest to us. And that is when I found Melinda. HIPPA makes it hard to connect through doctors sometimes, but in our online rare communities we often have luck connecting with people who live nearby, or have similar experiences. Melinda’s son, Noah, was only a year and a half older than Madi. We talked about experiences with doctors and with the same hospitals; Melinda gave me the tools to begin to advocate for Madi’s care.
A few short months after Madilyn was first released from the hospital, I received a phone call from her social worker. There was a new baby with cchs at the hospital, and the mother was ready to meet other moms. I was astounded; it took me weeks of emailing with Melinda before I got up the courage to meet her and Noah. And so I was fortunate enough to meet Anna. Her son, Teddy is six months younger than Madi. Throughout all of Teddy’s struggles medically, Anna has been an advocate for him. Teddy is an amazing young boy with the brightest smile that could light up any room. Anna taught me what true strength is.
As mothers, we are typically the primary caregivers for our children, and this often remains true even for children with rare diseases. What is different though, is how isolated rare diseases can make us feel. I can’t call up my other friends and complain about the newest infection or the next surgery; to them that is foreign, and probably scary. I don’t want pity. I want someone who understands that I need to vent about the frustrations of this life, but still know that I’m ok. Despite the different diagnoses and the different medical needs, each of these four women has taught me so much about being the mom of a child with a rare disease. I try to live with grace while owning my daughter’s condition, I have hope that, as each year passes, medicine will improve and make my daughter’s life easier; I have learned how to better advocate for my daughter, and have strength in knowing that I am not alone.
This fall we partnered with the Department of Genetics at the University of Alabama at Birmingham to plan the first-ever Rare Disease Day event in the state. This partnership has allowed us to plan both a symposium for medical professionals and one for the community. On February 28th, 2014 we hope to extend our support group from five moms to hundreds-because together we are stronger.
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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