Below is the public testimony Dr. Hardeep Singh gave at the Florida Newborn Screening Advisory Committee meeting in Tallahassee on July 16. Dr. Singh shared his personal experience as a father of two children born with SCID, illustrating the importance of early diagnosis. Please share your own personal experiences and contact us to find out more about your own state’s Advisory Committee and what you can do to join in the cause!
I would like to thank the Committee as well as the organizers for giving me this opportunity to tell my story. My name is Hardeep Singh and I am the father of 2 boys who have been diagnosed with X-linked SCID. I am a physician, my wife is a home-maker and we have 2 other children who are girls.
In 1995, my wife gave birth to our third child (Aran). He was born full-term without any complications. He was the pride of his older 2 sisters’ eyes; he developed well till 6 months of age when he started to lose weight, had frequent colds and coughs and developed a resistant thrush in his mouth. Numerous visits to our Pediatric group did not help and trials of antibiotics did not work. One Saturday afternoon, I noticed that Aran’s nails were blue; he was eight and a half months old. I rushed him to the Community Hospital; he was admitted to PICU on a ventilator and never woke up after that. I contacted the Pulmonologist at All Children’s Hospital at St. Petersburg, FL and he was transferred there. A diagnosis of PCP Pneumonia was made; Dr. Goode’s team was consulted and a diagnosis of SCID was made. I also learned at that time that 55 years ago, my wife had suddenly lost twin male siblings in infancy in Malaysia. As Aran’s lungs were damaged, it was too late do a Bone Marrow Transplant and we had to let him go. Our world changed overnight, I do not wish any parent to suffer the pain as well as trauma of losing a child. Being a father and a physician, I have never felt such shock, helplessness and despair. I will never forget the worst day of my life.
I am very grateful to my family, friends as well as the staff at All Children’s Hospital for their compassion and caring during our loss. A sample of Aran’s buccal mucosa was sent to the genetic lab of Dr. Jennifer Puck at NIH and the diagnosis of SCID was confirmed.
With encouragement from Dr. Puck and the Bone Marrow Transplant Team at All Children’s, my wife and I decided to have another baby. David was conceived in 1998 and the diagnosis of SCID was made 6 months in- utero in Dr. Puck’s lab with 2 cc of amniotic fluid. The genetic pattern of SCID that David has was identical to Aran. David was born full-term and was transferred to All Children’s Hosp. within 48 hours of birth. He was in isolation and it was decided to transplant him. Within 2 weeks, the first transplant was done; I was the closest match as a donor. Unfortunately, he developed Graft Versus Host Disease and the transplant failed. His white count was down to 0; we brought him home and he was transplanted for the second time at 2 months of age. Miracles do happen; he started making T-cells. After numerous hospitalizations and over 2 years of treatment with IVIG, he started making B-cells.
Currently, David is 11 years old, he is the sunshine of our life, he is healthy, plays the piano, is learning tennis and we play golf together. He is getting straight A’s and is starting middle-school in August 2010.
I believe that my older son Aran sacrificed his life so that David could live. As David was transplanted immediately after birth—he has done well. Early, early diagnosis as well as intervention not only saved his life but has enabled him not to develop complications of infections and he has developed normally.
I am delighted that the Secretary of Health has endorsed new-born screening for SCID. I hope that this Committee used the evidence to make the right decision, i.e. SCID screening in new-born as standard of care.
Thanks for listening to me.