Ari from New York
I’d like to introduce one of the bravest and strongest young ladies I have ever known, my daughter, Ariella. Ari was born in January 1997. She entered this world from an uncomplicated pregnancy and a normal birth. My husband and I went home from the hospital with a beautiful, robust, healthy baby girl. Our hearts were bursting with pride and love. Upon reflection, I wish I had the knowledge then that I now possess; the knowledge that I was forced to acquire about Homocystinuria, to ensure the health and well-being of my sweet girl.
Ariella holds the diagnosis of Classical Homocystinuria. Unfortunately, she was not diagnosed until the age of twelve. Yes, a newborn screening was performed shortly after birth, but that simple little heel prick did not reveal any abnormalities. For whatever reason it may be, that missed diagnosis at birth made a tremendous impact on the direction of Ari’s life, as well as the entire family. Anyone that holds the same diagnosis understands the daily challenges: diet, formula, medication, and supplements, and that’s just the shortened list. Though, that missed diagnosis at birth continues to provide a framework of existence for Ari even now as she maneuvers through her adult life.
So, how did we arrive at such a rare diagnosis, and why so late? I can share with you that Ari had a fairly normal history as a baby. She reached all her milestones of rolling over, sitting, crawling, walking, and talking within normal expectations. Her appetite was fine, and she was thriving, reaching into the higher percentiles for height and weight as she grew. Though, as time went on, we started to notice some questionable patterns.
There were several indicators that something was not quite right with Ariella. One of the first things we started to notice were spontaneous fits Ari began to demonstrate as a toddler. Fits that were not easily soothed. Ari would cry and squirm, and we could do little to stop it. The fits would happen mostly later in the day, which I attributed to fatigue. Looking back, I am sure these fits were due to discomfort. Of course we visited the pediatrician, but no medical explanation at that time could explain why these fits were occurring.
As Ari entered preschool, it became apparent that her language development was beginning to slow. Ari was now having difficulty with verbal expression. She often chose not to speak in order to avoid the frustration of finding the right words. This pattern with language delays continued on into her primary years in public school. At this point, Ari was showing difficulties with receptive language skills, making reading and comprehension difficult. Of course, she fell well below grade level performance more and more as each year passed. Her expressive abilities continued to suffer as well, which manifested in weak speaking and writing skills. At this point I had to seek educational support for Ari officially through the special education services offered through the school system. Since Ari required such high support in school, she was placed in a special education programs starting in grade two, and continuing through her graduation from high school.
Ari began to wear eyeglasses as early as eight years old. It wasn’t a problem at first, but at every annual eye doctor visit, her vision was reported to be quickly deteriorating. As parents, of course we were concerned. The eye doctor was equally concerned with Ari’s vision and therefore was meticulous in monitoring her. It took years, but as Ari reached age twelve, I learned about lens subluxation. The eye doctor explained how the lenses in both of Ari’s eyes were detaching and slightly dropping and this was the cause of the quick changes in Ari’s vision. But why? How could this be happening? We were now even closer to diagnosis. Ari’s eye doctor is really the initiating factor that led to her HCU diagnosis. I am tremendously thankful and ever grateful that this eye doctor was able to lead us to help for Ariella. The eye doctor suggested we seek the guidance of a geneticist, and that is what we did.
We live on eastern Long Island in New York. So, the choice of pediatric geneticists was limited to one. This doctor worked out of Stony Brook Children’s Hospital and was very quick to give us an appointment. We first visited this doctor in April 2009, and this is the doctor that continues to treat Ari today. Ariella presented with mild scoliosis (starting at age 11), a history of special education, and dislocated lens. Upon examination, it was noted Ari had long limbs, fingers and toes. At this point, we were told that it was probable Ariella would be diagnosed with Marfan’s Syndrome, a different genetic disorder with similar presenting symptoms. Though, after all blood test results were examined, we received the alarming news that our daughter was born with a rare genetic disorder called Homocystinuria. At diagnosis Ari’s levels were extremely elevated. Her Homocystiene level was noted at 377. It was imperative that we return to the doctor to begin treatment immediately as she was at risk for thrombosis.
Needless to say, our household became a chaotic environment. All established routines were now gone. At this time, Ari was the second of three children, and all attention was focused on her. As hard as we tried to divide our attention between all three children, it always seemed like Ari needed us most. Treatment began: a combination of diet adjustment, medication (Cystadane), supplements, and formula were the beginning steps. Multiple ongoing doctor visits to the geneticist, dietician, hematologist, orthopedist, physical therapist, retinal specialist, and even a rheumatologist. Most things feel into place, but the most difficult piece to this treatment plan was the formula. Finding the right match seemed to be an endless task. Powders or liquids? We found ourselves mixing flavorings into the formula with juices, water, or drinks to find what would be most acceptable for our 12-year-old that already had a preferred established palate. With time, we discovered what worked the best for us.
Outside of the logistics of treatment, we had an equally important task of addressing the emotional side of diagnosis with Ariella. Imagine, at twelve years of age you are now told that you cannot consume most of your favorite foods: icecream, milk, cheese, pizza, cookies, and cakes, to name just a few. This was difficult for Ari. Initially, anger was often displayed. As a parent, I struggled with the guilt of withholding such enjoyable foods in place of protecting my child’s health. Though, as time went by, we were able to find substitutions, and even new choices, to take the place of the foods Ari was used to eating.
As months passed and the treatment plan for Ariella became more natural, we were able to focus on other things. Ari had two eye surgeries to remove the dislocated lenses. She also had extensive physical therapy appointments for the scoliosis. We discovered foods and recipes that worked in Ari’s diet. Consequently, Ari developed some autoimmune issues as well, Lupus being of priority.
Today Ari is a functioning young lady. She administers all her own medications and formula. She manages her own food and diet. Routine doctor’s visits are necessary to monitor her levels. With great pride, Ari is very successful with holding her homocysteine level between 5-10. All-in-all, the shock of diagnosis has been replaced with confidence that we have the tools to maintain Ari’s health. We cannot reverse the damage as a result of late diagnosis, but we can forge forward making decisions and choices that improve the quality of life for Ariella.
Ari’s desire is to not be considered different from her peers, and this is how we raised her. She wants to be treated equally and fairly, and not with pity. HCU has left its mark on Ariella in several ways, though she continues to defy its presence. Even with Ari’s limited cognitive ability, she earned her high school diploma. Ari works part-time and is highly respected by her colleagues. Ari has worked hard to acquire her driver’s license. She enjoys shopping, playing video games, surfing the internet, visiting with family, and caring for her pet geckos.
More than 15 years have elapsed since Ariella’s initial diagnosis. Those years have been filled with a lot of experimenting, learning, and challenges, setbacks, as well as successes. Though, I will never forget the immense fear of being told my child has a rare genetic disorder. It was often that I felt alone and had no one to turn to that could understand the plight of such a diagnosis. It is important to note that staying strong is important so that you can be the best advocate for your child. Along this journey, too often I was confronted with the ignorance of others in understanding Ari’s diagnosis. Countless times it was necessary to explain and educate others about HCU, and repeat. Educating myself and having patience was the key to educating others.
Witnessing my daughter evolve from an angry and confused child upon diagnosis, to a responsible, young adult that understands the consequences of her genetic disorder has been beyond rewarding. I marvel at her ability to persist with the strict requirements and demands of her diet, formula, and medications. Ari’s fear of what could happen if she strays from her routines prevents her from doing so, but feeling good keeps her going. So, Ariella, my daughter, is an HCU Hero. She is brave and strong in spite of the challenges she has met, and she is prepared to tackle any obstacles she might come upon in the future. Come what may, I will be of support to her as best I can.
