Hello! My name is Danielle and I was diagnosed with Classical Homocystinuria through the Newborn Screening Program in New York City. My parents remember receiving a call from the hospital saying that I needed to be brought back to the hospital or they would be reported to Children Services. Being that I am the last born in my family, this was certainly shocking information. When asking my mother about her reaction; she says she was numb since it was something she never heard of and could not figure out an instant fix. When asking my father about his reaction he remembers being in denial and angry due to the latency of the results. Being born in an advancedhospital and having both parents employed there definitely contributed to the indescribable medical care I immediately received. I became a patient of Dr. Selma Elenore Snyderman; an early pioneer of metabolic disorders. The support and care she provided has laid foundations, brought peace, and referrals to key contributors in the homocystinuria field for my past and present medical care. Presently, I live in Orlando, FL and travel to New Brunswick, NJ for medical care with Dr. Debra Day-Salvatore.
Having a strong medical team allowed my parents to provide care and transfer skills confidently. We were so confident that we moved to the Poconos in PA. The Poconos is made up of 4 small cities,1 state road and 1 highway; it was quite a change! We would commute back to NYC for medical care. My mother worked at the local hospital that had no idea of any metabolic disorder but given odds we always felt safe and had an emergency plan. I lived in the Poconos for over 20 years and only had 1 complication due to HCU – heart palpitations. I had them once as a child and twice as an adult. As a young adult my palpitations were due to non-compliance. That event was enough for me to overhaul my lifestyle.
While having HCU is all I know, I became deeply vested in my medical care when I was in the hospital on New Years Day for heart palpitations. I will never forget sitting in the hospital in the Poconos and everyone was uncomfortable to give care due to me having HCU. The medical consensus was to monitor and send me home once stabilized. From that day on I realized that I am my biggest advocate. While I have never stayed the night in a hospital or experienced grave complications attributed to HCU, this event motivated me to make it my mission to advocate for myself and the community.
Due to grace and quality care, HCU has never prevented me from anything I set my mind to accomplish. I had a highly active childhood (ballet, horseback riding, ice skating, and more). I proceeded to attend East Stroudsburg University of PA and received a Bachelor of Science, Bachelor of Arts, Master of Education and become a certified Spanish Translator.
I have an amazing support system: My parents – Frank & Francine, siblings (Dorothy, Vernette, Andre, Frederick), my husband (Irving) and 3 son’s (Irving, Julian and Christian), and my extended sisters/best friends Avery and Sarah who all advocate for awareness and make HCU seem as normal as having 2 hands.
Originally, I was not comfortable with sharing my story as I thought it would be boring. After writing, I have to say that it is more of a blessing than bore. Having all these new treatments on the horizon makes it a vibrant time to be living with HCU. My advice to parents: Never stop transferring your amazing skills and care and for my HCU rare warriors; never stop advocating…..