The Beginning

I started this blog to connect with others and bring awareness and normalcy to the children that do not walk, run, or talk at the same time as others their age. In doing so it helped me to write her story down. When I published my first post I had no idea that it would be viewed, shared, or personally responded to as it did. I knew we had a beautiful yet challenging story to share, but was weary that anyone would have interest in reading about our Livi Lou, I was wrong. As we continue on this journey, I thank each of our readers for taking interest in our story. Please continue to read and share in hopes to help others and spread comfort. We were created to literally live, love, and support one another, so thank you readers for coming back for our second post titled “The Beginning”.

When Livi was born I have shared that she was considered low tone, this also meant her ability to nurse. I nursed my first born and knew the ropes, I also had the nurses and lactation consult to offer advice as well. Still, Livi did not have the ability to latch well enough to continue breast feeding. I had not purchased the first can of formula for home use, I only thought I was prepared. After immense efforts to try to have her latch it was necessary to begin bottle feeds. I was tired, emotional, in shock, and giving it everything I had. I was ready to feed my baby in whatever way it took, wouldn't this mindset prepare me for what was to come.

Livi was able to drink, but it exhausted her and she extracted very little. This began our "slow weight gain of newborn" challenge. The months and efforts continued on, every different type of bottle had been purchased, every professional had been consulted. She would later on have a swallow study to help determine the cause, as we will discuss later. We were fighting daily, to have our newborn do what most can so easily do, have a coordinated suck, swallow, breathe movement.

Our pediatrician had us come in every 2-3 days for "weight checks". Livi would gain, but at an extreme low rate. On the growth curve Livi would later on get down to the 0.04 percentile, in my mind this was almost to 0. The fight continued.

As our baby was first thought to have Down Syndrome several tests were performed, one being an echocardiogram. We were told that it is often Down Syndrome babies have heart conditions that require surgery right away. They did an echocardiogram in the hospital at birth and then had us follow up with a pediatric cardiologist as well. Livi has two ASD‘s that at this time pose no problems. Her cardiologist will continue to monitor. One speciality, almost, signed off on her case- hallelujah!

At 3 weeks old Livi rolled over, multiple times, caught on video. My instant reaction was excitement, happiness, my low tone baby was on the move! But as she lay there afterwards the thoughts came, they came fast. The Google search began, “problems with baby rolling over too soon”. Calling my husband, who is medical, to ask could she have cerebral palsy? Are her reflexes abnormal? What would this mean for her? He reassured me that “Livi will be what Livi is” as he says to me over and over when I begin to look for solutions or answers to an unknown occurrence. At this time we had not seen the geneticist, we had confirmation that it was not Down Syndrome but what was it? When our genetic test came back negative for Down Syndrome, a more in depth test was recommended, a microarray. So back to the pediatrician office we went for more blood work. As we began to dive into our unknown our pediatrician was wonderful, they had us coming back for weight checks and always made sure to have extra time to sit and answer our questions; they quickly became some of Livi’s biggest fans.

The bloodwork took weeks again to send off, get it back, and go see a geneticist to discuss the results. Eventually it was time, we loaded up and off to Ochsners in New Orleans we went. Before going others had told us how wonderful this geneticist was, how he was very intelligent. Wonderful, just who we wanted to see! On our drive there I made a comment to Josh, unknown to what we would find out, I said “I’m scared we will leave with more unknown.” How true this was. They did their assessment on Livi, she had just had a 3 oz bottle, and for Livi this was major. We drove two hours and arrived thirty minutes early to her appointment for her to feed. During her assessment Livi was completely asleep, no waking her up. She did move at home, she did have a little tone, but not in front of them, not this day. So it was time for the geneticist to come in and explain what we had in our hands. When he came in, he laid her on the table, examined her features and then asked to take her picture. Oh sure, sure let’s just get to the point. Well, that was his point. Livi was diagnosed with a genetic abnormality that has never been documented. A triplication on her chromosome 1, at the site of 1p32.1, 1p31.1 was not in the database. In the specific location it occurred there has been no others, duplications have been reported but never a triplication. He gave a paper with our results, and what the patients of duplications had reported. She could have all of this, some of this, or none. The list detailed failure to thrive, developmental delay, pneumonia, autism, intellectual disability, cognitive impairment, and hearing impairment. He gave us web pages that parents or patients themselves globally can input their own info in to document. The search continued, and again not one person of Livi’s diagnosis was there either.

When a well known geneticist runs his fingers through his hair and exclaims your child is a miracle it does not sit well like one would think. I instantly cried, held back the complete sob but there were tears. I tried to listen to more he had to say, but I could not. I wanted to find a hole, crawl in it, and you know the rest. What I did hear as I tried to invest in this appointment was he continued on that Livi was indeed a miracle. It was a miracle that she was not miscarried, as this type of genetic abnormality is what a miscarriage can be, that it was a miracle she survived birth.  A miracle that she is still here at almost 6 weeks old. Slow to grow, but indeed growing. Hearing the word miracle over and over was a feeling I cannot explain. So we left New Orleans and started our two hour ride home, the meaning of life has never been more clear to me.

We dream of wanting more in life with bigger houses, shinier cars, new clothes, but in this moment  and the days and months to follow none of this mattered. I longed to have a healthy baby. Her name Livi was given to her before birth, but wasn’t it so fitting. Livi, nicknamed Liv. To live a life no one had charted before, well isn’t this going to be an interesting ride.