Natalia Born: August 25, 2000
Natalia is our fourth child. She has a rare chromosome abnormality called Patau Syndrome Trisomy 13 (Have 3 of the 13th Chromosome instead of the usual 2) With this syndrome comes a list of abnormalities.
Natalia surprise us at birth with her unique diagnosis. She looked very different than my other kids to say the least...my first thought was, "How did I make a child like this" But immediately I was in love...and knew our love with Gods healing love, we'd all be ok. Visually we could see the cleft lip, frontal lope fusion, ear slightly off, a small sore on her scalp, extra digits on her hands and a rocker bottom foot. We were offered the option of aggressively treating her or allowing her to die naturally, we choose to treat her like any normal child, doing all that we could with the advances in modern medicine. Fixing one problem at a time.
I believe it was the grace of God that allowed me to make certain choices with this pregnancy, which ultimately, I believe saved my child and myself from the usual prenatal stress that comes with a prenatal diagnosis of trisomy 13.
With my other three children I did take the AFP test. Wanting to know if there were any problems...but with our second child I was given a false positive result on the AFP test and then went in for the amnio. During the waiting period I was approached by several family members and friends on the possibility of abortion if there was a problem. That was not an option for me personally. Thankfully, everything went well with that test, and that child is my darling 23 yr old son...
Having had that experience it was an easy choice not to have the AFP for this pregnancy. I knew this was my last "hoorah" as I was approaching 40. I took extra care with this pregnancy and saw just one Physician in the office, and had several vaginal ultrasounds in the first few months. Nothing seemed out of the ordinary. As the months moved on I was eager to see the sex of the baby, but with the busy OB schedule, the Doctor was usually on his way to deliver just as I was in the office. By the 9th month I was really curious so we were able to take a peak. We could see that the baby was a girl. I mentioned that felt a nob by my ribs not the usual foot. He checked the feet, they looked fine and when he tried to check the child's face he just couldn't get a good angle and actually said "Unless there is a cleft lip, she looks good" He offered a better scan at the hospital, but life was full with the summer months and the kids, so I declined as all appeared good, I was just a bit older and had gained a few (ah- 20 extra pounds) Which actually helped out our little gal, as she was a full term, normal weight of 7lbs 8 oz. I had a scheduled c-section which I also believe helped in her birth health.
This diagnosis comes with a label "not compatible with life" and "may be inappropriate to treat" within the text books and trisomy literature. With the new age of the internet we can see that some of these kids do fairly well, if given the necessary medical treatment that might be given to a child without a genetic "not viable with life" diagnosis.
Natalia is the "JOY" in our day, with smiles and giggles. She is mentally delayed...and that is ok...she is a person, with a heart, she feels, she smiles, she reaches for us, she follows us from room to room...She is attending a school for the visually impaired and having a wonderful time. She walks with her reverse -K walker and uses a wheel chair for longer trips.
The first year was very difficult, just getting past all the Doctors preconceived notions that she would not survive, learning what she would need in medical care, its a new journey so it was an adjustment...She made it through each surgery beautifully and now we just take one day at a time. I have three other children so we have a full life...with lots of hugs...
I never expected to be on this journey, not really where I wanted to go, but we are here, and actually so thrilled that we have been blessed with this remarkable child to love and care for.
The Doctors don't always know exactly how long these children will live, Many parents are offered Selective - Elective termination, or they are asked to induce early...(be sure to ask for the test to see if the lungs are developed) Unfortunately some of the families who have induced early have had children in their arms with no hope of survival due to the lungs immature growth. Doctors try to give the best information that is out there but each child is unique...and deserves everything you would do for a normal child to enhance their quality of life if that is your families wish.
You will meet many new friends on this new journey and some of your old friends will move on...and those that stay will truly be with you through many of the changes in your life.
As the years have moved forward I've found the immense support of the SOFT Community at www.TRISOMY.ORG - SOFT is the Support Organization for Trisomy 18, 13 and Related Disorders. The SOFT Community website offers Registration for News Events, a Surgery Registry, Annual Conventions and a wealth of trisomy support resources. You can read Natalia's most current Story on their Family Story Library page. You can search "Natalia-Marie" here at http://www.TRISOMY.ORG Please JOIN SOFT'S Facebook Group https://www.facebook.com/groups/TrisomySOFT/ also be sure to LIKE and follow their SOFT Facebook Page https://www.facebook.com/Trisomy18.Trisomy13.Awareness.SOFTrelatedDisorders
You can read more stories about other Trisomy Children from Babies to Adults at http://trisomy.org Use their FAMILIES drop down MENU to find the page.
More on Natalia's development living with trisomy 13
Many Blessings to you and your family as you continue on your trisomy 13 life journey,
ThereseAnn & Natalia-Marie
to Trisomy 13 Stories
-The support, information and encouragement provided by the PPFL parents is not meant to take the place of medical advice by a medical professional. Any specific questions about care should be directed to a health care professional familiar with the situation.