Monday, October 13, 2014

Good News

We did not win the "lottery"!!!!!! According to genetics, they did not find the gene which causes tuberous sclerosis in Vincenzo. Yay!!! Even though we are not out of the woods yet, this is a huge relief. And granted genetics are never 100%, this lightens the worry load for now! So in the meantime I will enjoy my babies with a little less worry! Evan keeps us on our toes as is!!!


Friday, October 3, 2014

I Don't Want to Win the Lottery..

We have delt with our fair share of medical challenges with Evan. From a life long diagnosis and a two month NICU stay due to a premature birth including strict skin care regimens, blood transfusions and an emergency hernia surgery; it's enough to last me a lifetime of worry. It hasn't been easy but we have remained strong for Evan to get through the bumps along the way.

Evan's condition is rare. So rare, it's a -one in a million- type of occurrence. For Joe and I to both have this genetic mutation and then to pass it on through a recessive gene, is rare in itself. It would have been easier for us to win the Powerball but instead we won the "genetic mutation lottery". A lottery I was hoping to avoid with our second child. And as we avoided the harlequin "lottery". A new set of challenges have popped up with our newest bundle of joy.

Five days prior to his birth, my high risk doctors found a "mass" in the baby's heart. After seeing these doctors for 9 months (because of my preterm history) and receiving multiple ultrasounds and non-stress tests, I was very surprised this was happening. Well sort of. After everything that happened with Evan, I almost felt it was too good to be true to have a "normal" pregnancy. Yet what is normal when you have to have a surgery to remove your para-thryoid at 37 weeks pregnant? (A whole other story!) But when the doctors started focusing on the baby's heart, mine pretty much stopped. Why? WHY?!?! How could we be going through this again?  How could our baby be going through this? How could something be wrong???? I thought we were done with specialists and medical concerns for at least one of our children.

The day of Vincenzo's birth was still a very happy experience. Though there were still concerns and cardiology would be following him after birth, it was not traumatic like Evan's birth. It was a nice change to actually hear him cry and be able to see and touch him immediately following birth. Being able to touch him moments after was so new to me. His skin was so soft and he was so happy to be snuggled up next to my cheek. Though he did head right to the NICU after he got his kisses from me and my husband. The NICU, an all too familiar place. A place where he was monitored the first day of his life receiving an EKG and heart ultrasound. A place where he was being cared for by the very same nurses and doctors his big brother had. A place I never thought we would step foot in again.

After lots of tests and doctors visiting the baby, they decided to test him for tuberous sclerosis. A genetic condition that occurs spontaneously. This condition causes benign tumors to grow in different organs, primarily the heart, brain, kidneys and eyes. These tumors can causes issues depending upon where they are found. Testing for this is just the first step in trying to figure out what is going on. As of right now the "tumor" in Vincenzo's heart is not causing any issues. While in the hospital he received a brain MRI and kidney ultrasound to check for any abnormalities, all to which came back normal. We are hoping that he does not have this disorder and the mass they found is a random one time thing that will dissipate on its own.

For both of my children to have two different random genetic mutations makes me feel like we won some sort of genetic mutation lottery. I am hoping it is not the case with Vincenzo. We have enough on our plate as is and it is hard enough to see one of our children have to deal with lifelong medical challenges. I cannot imagine both of them having to. Let's hope we don't win this lottery.