So are you ready to go on a journey? No you don’t have to pack your bags for this trip.I only ask that you to sit back and sip your favorite cup of coffee or tea while I take your mind on a journey. That’s what book pages can do for you, if you let them.
Our story is yes, one that maybe a lot of parents can relate to, but it’s one that is very unique. Just as my book I started to write is titled: 2 Of A Kind A Special Journey. On February 13, 04 my son Jacob was born. A normal pregnancy, and pretty much a normal birth didn’t predict what happened next. At the age of 6 months my son had no tone. No head control, and he was not trying to roll over or even crawl. Right around that time my youngest sister had a gymnastic injury and had to go see an orthopedic doctor. My mother had a good idea that the doctor might have a look at my son. Apparently, Jacob’s tone issues were significant enough that the doctor got us signed up for therapies and other programs. Years latter after many blood tests the genetic doctor and his team found a genetic deletion. Their question was: Is this the cause for his condition? My mother and I would argue a absolute “Yes!” I will never forget that day. Mainly because, even though you have probably read about when a family gets a diagnoses that it’s a shock. But, nothing can ever train you for that moment. It was not just a shock, it was also a lot to take in (to process, to remember in order to share) and on top of that it also brought light to my many struggles I had growing up. So, here is some facts: 1 in 1000 woman have Retts Syndrome. Males however, die right after birth. So, here was a male who served. But you can’t name it Retts because it’s only women that have it, so MECP2 Deletion or Duplication is what it will be labeled for my son. Unbeknown to me, I also had a mutation and that I am a carrier of the gene. As I sat in the room waiting for the doctor to come back they had given me a brochure that had many studies and also pictures of people who had the same syndrome. My eyes were swollen with tears for so many reasons. But then as I flipped through the pages I came to a picture of a very mingled body of a 30 year old woman that had the same syndrome. Fear crept in, I started asking my self: Is this me in a few years? What about Jacob? It was quite frightening. The doctor came back and said: There just is not enough data to rely on( meaning there are not enough males who have survived in order to make comparisons) so we will have to go on what we know about the females. So they check his heart rate and measure his head because the females are known at times for their heads to shrink.
Years later we look at a boy who is not floppy like he was at birth. It doesn’t mean anything because lots of syndromes make changes in the body as the child grows.
Jacob is a teenager, and at 58 pounds of dead weight and with his spine twisting like a pretzel, and him being none verbal, he is a blessing to have and to hold. His blue eyes speak so much. You know how a picture is worth a thousand words? Jacob’s eyes express more than that because he has seen so many pictures and yet hasn’t been able to express what he has felt and thought for years.
If you want to meet him, I have a vlog on YouTube where I explain the above and more. All you have to do is click the YouTube link under social links. If you like what you see, please like and subscribe! Also, if your enjoying my blog, why not sign up to get my latest blogs by email. The link should be on the side or bottom. We would love to hear from you!