This week, the My Beautiful CHILD Spotlight is on Victor. He was diagnosed with Pitt-Hopkins Syndrome (PTHS), but his diagnosis has not stopped him from being a happy and outgoing child. Thank you to Victor's loving parents, Theresa and Paul for sharing his story.
Topics: My Beautiful CHILD
Thank you to this month's "My Beautiful CHILD" guest blogger, Marlene Soto, for sharing her son's diagnostic odyssey.
The news that I was expecting after the recent loss of a baby was so heartwarming. I carefully followed my doctor’s orders and took my prenatal care very seriously. I was shocked when the doctors recommended we induce labor for my child’s safety. After my son, Antonio Luis, better known as Aj was born, I was only allowed to hold him for a few seconds before he was admitted to the Neonatal Intensive Care Unit. Aj was born with intrauterine growth restriction, small for gestational age, underdeveloped lungs, patent foramen ovale (heart defect), microcephaly, micronagthia, polydactly, and pectus. For weeks, I spent my days and what felt like endless nights in the hospital. It was then that I was told my son had to be seen by a geneticist because he was born with a syndrome.
Topics: My Beautiful CHILD
Thank you to this month's "My Beautiful CHILD" guest blogger, Gina Szajnuk, for sharing her family's diagnostic odyssey.
My name is Gina Szajnuk and I am the mother of three children, Ava, Lucy, and Oskar. Each have an undiagnosed genetic dysfunction. I too am undiagnosed. We live in a diagnostic odyssey times four. Since the beginning of our journey, we have been to eight hospitals in now five states.
Emory Genetics Laboratory was founded in 1970 and while our long history is full of many scientific and technologic innovations, first-to-market genetic testing options, and experts in the field of medical genetics, 2016 has been one of our greatest years yet.
Thanks to the joint venture formed by Emory University and Eurofins Scientific, a global leader in clinical diagnostics and genomic services, Emory Genetics Laboratory will be reaching even higher heights with a brand new, 61,000-sq-ft, state-of-the-art laboratory.
New home, new name. That’s right, after 46 years of serving our clients as Emory Genetics Laboratory, we’ll soon transition to a new brand identity.
Thank you to this month's "My Beautiful CHILD" guest blogger, Erica, for sharing her diagnostic journey as an adult living with mucopolysaccharidosis type 1 (MPS 1).
Anyone living with a genetic, complex diagnosis knows the earlier the diagnosis, the better. At 21-years-old, I was diagnosed with MPS 1, a rare lysosomal storage disorder and a diagnosis most receive at age ten. I know all too well what a late diagnosis often means and how rapidly life changes.
The holiday season has come around once again, bringing the opportunity to celebrate and join our beloved family members and remember those who have gone before us. This precious time also presents the opportunity to discuss and share family health history (FHH).
Topics: family health history
This month's guest blogger, Peggy, shares a personal story about her son, Bret, and the foundation that came from a shocking diagnosis.
My name is Peggy Miller. I am a mother of four and on April 28, 2010 I received an unimaginable task from God. Bret, my second son, was diagnosed with breast cancer at the age of 24. He discovered a lump on his right breast at 17, but all the doctors told us is that it was calcium and he was becoming a man. At the time, our family didn’t know where to turn.
This month's guest blogger, Shea, shares a personal story about her youngest son, Lathan, whose health suddenly declined due to unknown circumstances. By sharing her story, Shea hopes to enlighten parents and others to always pay close attention and listen to health complaints made by children.
My son Lathan has always been a special child. He is highly intelligent for a seven year-old, loves to play soccer and basketball, and is always full of energy. Over the years, he has always had what many doctors refer to as ‘toddler belly.’ As such, my husband and I never really thought it was cause for concern. One evening, Lathan refused to eat. He insisted that he was full after having only had a few bites. Stepping into the mean mommy role, I told him to eat or we would pay his pediatrician a visit. Normally this threat would serve to achieve the desired result, but not this time. He looked me straight in the eyes and said, “Mommy, I can’t eat.” In true, mean mommy fashion, I sent him to bed and took him immediately to the pediatrician the next day.
What we found was horrifying and began a lengthy search for the cause…his spleen was enlarged.
Topics: Gaucher disease
October is Down Syndrome Awareness month. Down syndrome is the most commonly occurring condition that is caused by changes in a person’s chromosomes. Specifically, it is caused by having three copies of chromosome 21 instead of two. One out of every 691 babies born in the United States is born with Down syndrome.
All people with Down syndrome experience some degree of intellectual disability. This means they will learn more slowly than other people. Children with Down syndrome will learn to do most things that other children do, but they will do them later than their peers.
From fashion, to homeland security and the presidential election, the media has a major impact on our daily lives. Though we may not notice it happening, the media also plays a significant role in our healthcare and health management. Take for example, in 2013; Angelina Jolie announced she had a mutation in the BRCA1 gene, which prompted her to undergo significant prophylactic surgeries to reduce her risks of developing breast and ovarian cancers. Angelina’s openness about her genetic status and personal health choices heavily influenced the demand for knowledge and testing for hereditary cancer throughout the United States.
Due to high media coverage and an increase in the number of individuals seeking genetic testing and counseling for hereditary breast and ovarian cancer (HBOC) syndrome, health insurance companies responded by improving financial coverage for individuals meeting certain testing eligibility criteria. These criteria are most commonly based on National Comprehensive Cancer Network (NCCN) Guidelines and include having a personal history of breast and/or other cancers, and/or having first and second degree relatives with a history of breast, ovarian, or other cancers. The criteria and amount of coverage may vary from one insurance company to the next, and even within plans offered by the same insurance company.