Kristen felt lost until she found support in other 1p36 famlies

Thank you Kristen for sharing with us!

Lauren was diagnosed with 1p36 deletion syndrome when she was three months old. I knew something wasn’t right after all the doctors we ended up having to see while I was still pregnant with her. When I was 7 months along we were sent to a pediatric cardiologist after one of the ultrasound techs found an abnormality during a routine check up. Lauren weighed 5lbs and 13oz when she was born and the fact that she was diagnosed with the heart defect Ebsteins Anomaly made doctors want to due further testing to see if she had some kind of syndrome. Once her blood test came back with 1p36 deletion syndrome we were sent to a geneticist and the roller coaster ride began.

We were seen by specialist after specialist to see how this syndrome was affecting our daughter.  She suffered from horrible reflux for the first three years of her life. She had horrible sleep patterns. I honestly think she slept through the night twice the first three years. She has suffered from severe constipation and gastrointestinal problems. She was diagnosed with moderate hearing loss and had to wear hearing aids for about a year.  If we fast forward to now Lauren is doing amazing. She just turned 5.  She started walking almost a year ago, Although she doesn’t say much she gets her point across very well. She is seen by her cardiologist yearly to monitor her heart defect.  As far as her hearing goes she does not wear hearing aids anymore. Her audiologist said the her hearing basically fixed itself and is almost completely normal. Her pediatrician is amazing and put her on a special sleep medicine and she sleeps like a champ now. We still battle her constipation constantly. The newest daily battle we are dealing with is behavior. She has been pinching not only us but her teachers, classmates and friends. Not sure what we are to do there but we will figure it out I suppose.  Lauren receives occupational, physical and speech therapy weekly.

I thank god for her everyday and for all that she has taught me to this point. And I am very thankful for my 1p36 family. We have an incredible support group of awesome moms. I thank you Karen West for finding me on that lonely website and inviting me to be apart of this group. I was so lost back then and didn’t know who to turn to. Please help us raise awareness and help all of these sweet kiddos get what they need to reach their full potential.