It was my twenty week appointment at Dr.Kinder’s office (my OB). I was so excited because I was going to find out if I was having a baby boy or a baby girl. I really wanted a little boy because I just could not see myself being able to dress up a little girl if I’m not girly myself!
When we got to his office I was nervous beyond belief!! I am lucky that my mom and sister were there with me or else I would have gone crazy! Finally the nurse called us back for my ultrasound. As she poked on my belly trying to get different views of my baby, it was really awkward and quiet. No one really said anything until the ultrasound tech said “It’s a boy!” I was thrilled! This is exactly what I had wanted and I couldn’t wait to get home and plan on having my little cowboy! Little did I know, before long I would be knocked off my high horse.
Later that day, Dr.Kinder’s nurse called me and informed me that my son was not growing at the same pace other babies do. She told me I had an appointment the next day with Dr.Briery who is a perinatologist. This was so they could get a better look as to what was going on. At this point I didn’t realize what was happening or how it would effect my pregnancy, delivery, and life after.
The next day at the perinatologist’s office my mom and sister sat with me nervously waiting for the nurse to call me back. Again, this apointment was silent and awkward until Dr.Briery came in. He also did his fair share of poking and picture taking… and I will never forget when he looked at me and said “Alyssa, it doesn’t look good.”
My entire world fell to pieces. Just yesterday everything was fine and I was going to have the perfect little boy.. and now this! I thought it must be my fault. There is no way this could “just happen.” I was absolutely crushed and couldn’t even understand what was happening.
Dr.Briery said he didn’t know what it could be, but I could have an amniocentesis to test for Trisomy 13, Trisomy 18, and Trisomy 21 (Downs Syndrome). He explained that there was a huge chance that the amniocentesis would not hurt my baby, so I agreed to get it. After it was done, we left for home and of course I was too much of a wreck to drive.
When I got home, all I could do was cry. I was terrified! Would my son, be able to walk, talk, play sports, and make friends.. would my son even live?! So many questions and worries raced through my mind. This is all I could think about!
The next appointment I had with Dr.Briery was just as hard. My mom was the only one with me for this appointment and the rest thereafter. At this appointment I was a bit more collected and was able to listen more of what was wrong. Dr.Briery told us that his head was big (90th percentile), his long bones were short (less than 2% than the average child), his femur was bowed, he had a very small chin, frontal bossing, and no nose (that he could see). Of course this was not good news and I was completely lost as to what to do and where to turn! My mom decided that I should get a second opinion at another hospital, so I saw Dr.Grooms. This appointment confirmed all that Dr.Briery said.. and more. At this appointment we found out that he had a small thorax, which means that the lungs can not expand once he is born.
The next few weeks were hard. I didn’t want to talk about things with anyone, I just wanted to convince myself that everything was ok. I was in denial.. but I believe I also had a bit of faith that things would be ok.
My mom reminded me of a book she had gotten for me when I had a personal crisis about 2 years before this incident. The book is called Life Without Limits and is by a guy named Nick Vujicic who was born without limbs. This book completely changed my outlook on things and gave me hope! (You should totally check it out!)
We soon found out that my amniocentesis test results came back negative! It was a relief, but sent another wave of confusion because I had no answers! Soon afterward they thought he had achondroplasia, so they tested for that as well.. but it too came back negative!
I don’t really remember the appointments after, but at the end of my pregnancy things had changed so much! They said his thorax was fine and we could see him practice breathing on the ultrasounds, his femur had somehow straightened out, he did have a nose and a normal chin! The only thing that concerned them towards the end was his short long bones!
My last major appointment before I delivered was on December 5th with Dr.Chen, a genetisist who came from California to see me. At the end of my appointment he was sure that my son had hypochondroplasia.
Even though things were ok, I still had to have a c-section because he was breech. The night before I was so scared. I remember waking up my mom and telling her I wasn’t going to the hospital and I was running away. She held me and told me it would be ok, even though I didn’t feel like it.
The next morning as we headed toward the hospital, I was still scared.. all the way up until I had my c-section. They ended up giving me some “happy medicine” so I could chill out! The last thing I remember before being put to sleep was asking for my mom!
When I woke up I remember hearing him cry and my mom holding my hand! Finally the nurse brought him around to me and he was beautiful! My sweet Waylon Cash Acklin was born! It was December 20, 2012 at 8:20 am! He was 7 pounds 12 ounces and 18 and a half inches long! I didn’t get to see him again or hold him until the next day because he was in the NICU due to low oxygen.
Up to now (January 16,2012) Waylon has had his Pediatrician appointment, 2 Shriners appointments (one for x-rays and one for a thyroid test), and blood work done for Jaundice. They believe he has spondyloepiphyseal dysplasia congenita (SED) and this causes short long bones, something with the spine (not sure exactly what), his arms do not fully extend, and bowing of the lower legs and lower arms. We also thought he had a club foot, but they ruled that out.. his foot is just severely turned inward. Thank you for reading and I will post more soon!