Finding out your pregnant is one of the most exciting and emotional moments in a woman’s life. Giving birth to a child, is a feeling alike a inaugural moment in time. That specific day and time will always be memorable because that was the time your child was brought to life. During pregnancy there are many possible things that happen and don’t happen during in utero. During my pregnancy with my son Jack, I was so worried and scared of him having disabilities or birth defects, and possible premature birth. I not once did i think about the 7,0000 rare diseases out there.
As many of you parents know raising a healthy child is tough as it is. Can you image what it's like raising a child with a rare diseases, who’s fighting for their live? Well I can and it's an emotional and physical roller coaster ride! You become sleep deprived, paranoid, you pretty much isolate yourself from friends and family with small children for about the first 2-4 years (depending). You have doctor and therapy appointments, paperwork to fill out, phone calls to make, work (if possible), all while maintaining a sane and “normal” living for you and your child. Jack was born 36 weeks premature, he was in NICU 1 month and 3 weeks. He had a blood transfusion at less than a month old and surgery for a gastro tube and fundoplacation. He had low O2 and "noisy breathing" called Laryngomalacia. All up till 17 months of his life he was somewhat stable, still requiring O2 while asleep. His oxygen stats would drop low. But that all changed September 23, 2014; it was noon and after getting ready for the day and getting Jack ready he began falling asleep so I put his cannula on and turned on his O2 machine. He slouched down the bed and when I went up to lay him right his face was blue! I called 911 and stayed in the hospital for 3 weeks. After countless tests and ultrasounds he came out positive for Congenital Central Hypoventilation Syndrome or also know as "Ondine's curse". October 16, my mom's birthday. He got discharged from the hospital.
During our first week of Jack being at home he was required to be on his vent and O2 for 24/7. I was beyond overwhelmed!! If i needed to do anything outside our room, I simply couldn’t without the help of my grandmother watching Jack. Even my mom took days off from work to help me out. I immediately called Medically Fragile Children and was approved for 80 hours of nursing. We now have a day and night nurse. when Jack got trached he was 17 months old. So before that he lived 16 months trache free so this new device was new and foreign to him. Today Jack turned 20 months. He has had the trache for two months and has somewhat adjusted to it…well like he has a choice. I soon hope he outgrows his airway defects so he can be a possible candidate for diaphragm pacers or a bi-pap mask.
In simple terms CCHS means he will require life support for the rest of his life while he sleeps. As his mother I do worry about the unknowns. I worry about the things I can’t change, but i have very high hopes for his future. Proper ventilation is key! Throughout this whole experience it has proven to me that I am a strong woman; decision making, educating, learning, adapting, and loving. I am my son’s only advocate. I sit here and ponder, life can always be worse, so we will not let one minor syndrome get in the way of enjoying the simplicity of life. Life is precious and so delicate. Us as human beings take it for granted, especially breathing. Always remember somewhere in the world there is a child fighting for their next breath.
To my dearest Jack Ian,
Baby, you may be rare but you are beyond perfect in my eyes. Momma loves you!
