Elsa and Grace Enomoto
We are writing to express our gratitude for your work on researching Type 2 and 3 Gaucher’s Disease and support for families with children who are suffering from this disorder. We ask that you indulge us for a moment as we would like to share the story of our wonderful daughters and how they have brought us in touch with this work.
We are the proud parents of four beautiful daughters: Cameron, Skye, Elsa and Grace. Cameron is five and in kindergarten, and Skye is three and in pre-school. Sadly, our two youngest girls, Elsa and Grace, both passed when they were just a few months of age.
Elsa was born on January 23, 2007 and unbeknown to us at the time, displayed some indications of Gaucher’s Disease such as stiffness, ichthyosis, laryngomalacia, and slow growth. We believed that she would out grow these conditions and, with the exception of her breathing difficulties, appeared to be doing so. Not knowing any better we assumed that she was developing normally. However, on April 27, 2007, she stopped breathing during her morning nap and did not recover. We were devastated. The autopsy findings listed the cause of death as undetermined. As you might expect, we were left with many questions that only compounded our grief in losing our 3-month old baby girl.
With the support of friends and family, we slowly moved forward with each day being a little brighter and better able to keep life in perspective. Through this, our fourth daughter, Grace was born on April 23, 2008. Like her sister Elsa, she unfortunately displayed similar symptoms and it prompted much closer observation and testing. When she was three months old, Grace was treated for her laryngomalacia and later underwent a fundoplication to address recurring bouts of reflux. She also underwent a series of tests for metabolic disorders and in August 2008 we received the heart-breaking news that she (and most likely, Elsa) had Type 2 Gaucher’s Disease.
After receiving this diagnosis, Grace remained in-patient at the Kaiser-Permanente Hospital here in Honolulu. Additional testing was performed to identify exactly where the mutations occurred in Grace’s genetic structure and the results were entered into the Genzyme Corporation’s Gaucher’s Registry.
We were extremely fortunate to have a dedicated team of physicians, palliative care specialists, nurses, social workers, and counselors to help us not only understand the etiology of Type 2 Gaucher’s Disease, but more importantly, they provided all possible comfort and support to Grace and helped our family prepare for the difficult months that lay ahead.
In Hawaii, none of medical professionals (some with over 30 years of experience) could recall encountering a case of Type 2 Gaucher’s Disease, and consequently, we were all learning side-by-side. In this regard, websites such as this, provided us tremendous insight into Gaucher’s Disease, an understanding of what to expect, and comfort in reading the stories of other families and knowing that we weren’t alone.
Throughout the fall of 2008, the neurological and physiological impacts of Gaucher’s became incrementally more pronounced in Grace. Thankfully, because we continued to be in-patient, we were able to receive appropriate care and comfort medication whenever it was necessary.
In the evening of November 18, 2008, our baby Grace passed away peacefully in our arms and was surrounded by her sisters, grandparents, and an incredible group of hospital staff who loved her as their own. Grace was almost seven months old. A small memorial service was held and it is through the generosity and love of our family and friends that we are able to make a contribution to the Children’s Gaucher Research Fund on behalf of both Grace and Elsa.
We are pleased that these funds will be used towards research on Type 2 and/or Type 3 Gaucher’s Disease in the hope that it will expand the body of medical knowledge, provide better comfort and care to children like Elsa and Grace, and ultimately, lead to a cure for this rare disorder.
Stanton & Kristen Honolulu, Hawaii