Newborn Screening Family Stories:
Though we do not live in Minnesota, we wanted to share our experience because our story would be very different had our child been born in a state like Minnesota that has such a comprehensive newborn screening program.
Just a few months ago, our beautiful daughter, Giselle, died from a condition called LCHAD. LCHAD deficiency is a rare recessive genetic disorder (both Chris and I are carriers) in which a key enzyme for long chain fatty acid metabolism (essential for life) is missing in all her cells (so almost all fats are toxic to LCHAD babies even the fat stored by her own body). The fat toxins accumulate in the heart cells primarily because this is the one organ that can never take a break, eventually causing heart failure and other issues. Children who are found early to have LCHAD may still live with some health complications, but are able to follow a modified diet for life in order to significantly reduce the risk of severe health problems and death. Giselle's LCHAD was not found early enough. Minnesota screens for LCHAD, but it is not tested for where Giselle was born.
LCHAD and many other disorders can be tested for at birth by a very simple test known as Newborn Screening. Newborn screening is so simple and inexpensive. Imagine just a few drops of blood on a special piece of paper can give you answers to your baby's health. We have an obligation to Giselle and every other baby out there that we can reach by raising awareness of the importance of newborn screening.
We lost out beautiful Giselle because without newborn screening her terrible disease was not found in time. It breaks our hearts to think that any other babies will die because they miss the chance for newborn screening. We are starting to work so that all the babies in our community will be screened. We hope that Minnesota families will take full advantage of the life-giving option of newborn screening in Giselle's memory-it would mean so much to us.
Chris and Victoria