Blogging is new to me. I don’t generally share my personal business on social media but recently I find that reading other people’s journeys has helped me a great deal. So to begin.
On December 5th, 2012 I gave birth to a healthy 8 pound baby boy named J. He was perfect. As biased mom opinions go. We had a rough start. We couldn’t figure out the latch so he was bottle fed. Which was fine because he ate constantly and he ate a lot. He had colic and acid reflux. As he grew certain milestones took longer. He rolled over at 4-5 months, learned to sit up at 8 months, crawled at 12 months and walked at 16 months. All the while no words ever came. At 16 months therapy started and by 2 years he had 6 therapists and still no words. At 2.5 years he was officially diagnosed with ASD ( autism spectrum disorder ), SPD ( sensory processing disorder ), and oral motor dyspraxia. It was a lot to take in. We knew it was coming but you take 24hrs to mourn the loss of what you wanted for him and find new dreams and a new path to walk instead. After receiving the diagnosis the doctor asked if we wanted genetic testing to see if he had one of the genes that can cause autism. We agreed. There was no history on either side of any genetic issues so we assumed it would be negative and we’d move on. It wasn’t. He came back with fragile x syndrome ( a discussion for another post). A brief description being a mutation on the x chromosome that causes developmental delay or autism in some cases. J was one of the few who got autism. Knowing it was an x mutation we knew it was me. We discovered I had a pre mutation and J had the full mutation. It’s been a learning curve. J is currently 4.5 years old and in preschool. He is still non verbal but he is so smart and makes progress every day. He’s wonderful. His sister A also has the full mutation
A was born November 28th, 2014 a healthy 7 pounds. The perfect example of how fragile x affects girls and boys differently. She rolled over at 3-4 months, sat up around 6-7 months, starting crawling at 8 months and walking at 14 months. Though speech has been slow coming she has lots of words and has a lot of sentences now. She has new words every day. It’s been amazing to watch.
After discovering that she too had fragile x my husband and I decided to stop at 2 kids. That just seemed logical with the genetic history we had. My husband scheduled his vasectomy and surprise we found out we were pregnant again. After getting over the shock we embraced the third knowing that they too could have fragile x. A 50/50 shot as statistics go. We found out it was a girl and we were relieved because fragile x affects boys so much more harshly.
E was born on April 4th, 2017 a healthy 8 pounds 5 ounces. The biggest of the 3. She was beautiful and a bit blue when she came out. They got her crying quickly and I got to hold her. All was right. We spent the allotted days in the hospital and got to go home. At some point we knew we’d blood test her for fragile x but as there is nothing you can do about it and she’s a baby we were in no hurry. So as you do with newborns, who have jaundice you take them in for weight checks and bilirubin level checks and bam!! She came back positive on her newborn screen for cystic fibrosis.
We have another screwed up mutation that we can pass along? Well damn. What are the odds? Apparently 1 in 31 for cystic fibrosis. In order for her to test positive my husband and I both had to have a carrier mutation. I mean come on. We seriously lost the genetic lottery. There was bo history to indicate either fragile x or cystic fibrosis and on top of that we still have to test her for fragile x. This is all too much some days.
So this blog is to help me vent and process my life as it comes and to maybe help even 1 person identify with either condition. Sometimes it helps to just read about someone else’s life who just gets it. I know that it’s helped me. So I will endeavor to write every day something, cause there’s a lot and to also be more in depth about each of my children.
Today was a good day. 😊