So, How Does A Little One Get 1p36 Anyways?

1st Day back at school - sitting big on the couch so I can get at least one picture

Loaded up on the bus - one of the most enjoyable parts of the day for her
Sitting, waiting patiently for the bus to get to her house!

Waiting for her breakfast, which is oatmeal literally every day. She loves it!

How did this happen?

I've had many people ask me this question, so I thought I'd touch base on it in my own words. Or at least how I've interpreted the information from Dr. Shaffer and other medical professionals I've listened to. Alayna has a chromosome deletion syndrome. In her case, she has the tip of chromosome #1 missing, hence why it is called a deletion and why it is "1"p36, "1" referring to chromosome 1. The "p" stands for the shorter arm of the chromosome because there is a longer arm too. The "36" refers to the strand of the chromosome, which honestly is very technical and scientific for me to sometimes understand.

Since it involves chromosomes, it is genetic. But, not everything genetic is inherited to each offspring produced and sometimes genetic things don't even mean that the parents are "carriers." Some people have asked if Dana and I were "tested." The answer is yes, we had blood drawn and also sent away to Signature Genomics. There, Dr. Shaffer performed what is called a microarray test on all of our blood allowing Alayna to finally get a diagnosis and to determine that we are not "carriers" and nothing is "wrong" with our chromosomes.

So, how did this still happen? Well, Dr. Shaffer has researched and concluded that this deletion occurs PRIOR to conception. What does that mean? It means that it existed prior to the sperm meeting the egg. Basically, either the sperm or the egg were "broken" already. It has been shown that with larger deletion sizes of chromosome 1, the sperm was likely the carrier. With smaller deletion sizes, like Alayna's, it has been shown that the egg was more likely the carrier. I had a "broken" egg slip through and it was the one fertilized. Isn't that interesting and yet slightly scary at the same time?

Next question: How did I have a broken egg? This is the toughest question that Dr. Shaffer would love to answer. She is investigating why do chromosomes break to begin with? I'm not sure we will ever know the answer. When a baby girl is conceived, she has all of the eggs she will ever have at birth. When a baby boy is conceived, he won't have any sperm until he starts puberty. Maybe it is environmental? Maybe the birth mother was exposed to disease or severe illness? Who knows?

So, basically I was born with this "broken" egg that just so happened to be fertilized and produced our wonderful, little girl Alayna. I find it fascinating and I do believe God had a plan over and above my plan.

Last question: Will my other three kids have a more likely chance of having children with this syndrome? The answer is no. Their likeliness of having a child with 1p36 is no greater than the general public which is estimated to be 1 out of 5,000 births. And just in case you were wondering, right now the only way to determine this in utero is to have an amniocentesis done and have a microarray test of the fluid.

During my pregnancy with Alayna, I had every test performed including the Triple Marker test and many ultrasounds. Everything seemed fine. However, looking back now one thing I had in common with most of the other 1p36 moms is that the baby stopped growing. I never measured beyond 35 cm even after the 35th week. This signified that Alayna stopped growing around 35 weeks. She was born at 6 pounds 2 oz while my other three children at full term ranged from 8 pounds 10 oz up to 8 pounds 15 oz. And Alayna was full term too.

I believe that obgyn's and pediatricians need educated about this syndrome. They need to know what to watch for and what possible red flags may come up during a pregnancy. I've been in contact with many medical professionals and they just don't know about it. It is frustrating as hell. They need to be able to recognize some of the facial characteristics of the babies and other common problems that these little ones face like respiratory, heart, and feeding issues. This is why the Pepsi Refresh Project pulls at my heartstrings. Our main goal as 1p36 Deletion Support & Awareness is to educate the medical community, as well as the general public, about this syndrome. Please help us by voting at www.refresheverything.com/1p36 and text 101439 at 73774 (pepsi). You can do both and we need you to vote everyday this entire month of August. Thank you for supporting this cause that means so much to me and my family. If we are able to help families get the right diagnosis and get the right protocol for their child we have succeeded.

I hope I have given you a little insight as to how our little Alayna came to be the way she is....perfect.