In September 2016, my husband and I found out I am pregnant. It will be our first child! We were, and still are so excited! Every four weeks we went for our sonograms. Everything seemed to be going great. The baby was growing well and appeared to be as healthy as it could be. The doctor had even remarked about how astonished he was that there had been no issues. I was even lucky enough to not have any morning sickness! Fast forward to our 20 week sonogram to measure growth and do a head-to-toe work up to check the organs, limbs, the heart and find out the gender. We are having a boy! However, with the joy of finally finding out that we are having a boy, came some less fortunate news. We were told that our little boy has a heart defect known as Truncus Arteriosus
Type I. This particular defect occurs in the first month of development when the main trunk artery fails to split into the aorta and pulmonary arteries, resulting in one main artery, or "truncus." In conjunction with this defect, there is a Ventricular Septal Defect
(VSD), or a hole in the wall between the right and left ventricles. We also found out that this condition was caused by a chromosomal micro-deletion known as 22q11.2 deletion syndrome
. A small sliver missing in the 22nd chromosome. (More on that later.) We were completely devastated by the news. Unsure of what this meant, and frightened this meant our little boy would not live long passed birth, we were torn between elation and utter devastation. But, the news was not all bad. Despite the news of the heart defect, we learned that this was a very treatable condition. However, this meant needing to travel to a children's hospital specializing in the surgical procedure necessary to fix his heart. This includes patching the wall between the ventricles, separating the pulmonary artery from the aorta and placing a conduit to connect the pulmonary artery to the correct side of the heart.
For this procedure, we sought out the expertise of the Children's Hospital of Philadelphia. A hospital also specializing in treatment of children with 22q Syndrome. This particular syndrome was previously known separately as DiGeorge Syndrome, Velo-Cardi-Facial Syndrome (VCFS) and Conotruncal Anomaly Face Syndrome (CTAF), just to name a few. Evidence shows that these syndromes are caused by the 22q11.2 deletion. Essentially, 22q is the name now being used for all of these syndromes.
The possible complications arising from this syndrome range anywhere from asymptomatic to severe cognitive and developmental delays as well as the possibility of the development of mental illness. Another hallmark of this syndrome is a compromised immune system. We also learned that there is no way to know how severely the 22q will affect our little boy, or if it will affect him at all aside from the heart defect. What we do know is that we and our little boy have a long journey ahead of us. The problem with this particular heart defect is that "little Thomas," as our family has so affectionately began calling him, will need continuous surgeries throughout his life to keep his arteries clear, ensure the conduit is functioning correctly and replaced when necessary.
The more we learn about the ordeal our little boy is about to face, the more we are beginning to realize all of the costs involved. Not just the travel and temporary relocation expenses, but the co-pay and co-insurance costs as well. Due to concerns of trauma to our unborn child in my line of work, my doctor has put me on light duty, which has significantly reduced my hours to just a little bit more than what is needed to cover my insurance premiums. We are now dependent on my husbands income to provide for our needs. With all the medical expenses already totaling over $1,200, and more to come, we are quickly realizing that this one income household will not be able to afford the coming costs related to our baby's upcoming surgery in May.
All of the funds collected through this campaign will go to fund the treatment needed to give our little boy the surgery he needs to fix his little heart and give him the opportunity to have a fighting chance to persevere in the face of this early challenge.
We greatly appreciate any amount given that will help us to provide this care for our son!
Liza and Thomas (and little Thomas, too!)