Cheering for Ellie

rned me we may not be able to see/hear the heartbeat yet. Neither of us was prepared for what we saw…or actually didn’t see. I was diagnosed with a Blighted Ovum (a pregnancy in which the very early pregnancy appears normal on an ultrasound scan, but as the pregnancy progresses a visible embryo never develops. In a normal pregnancy, an embryo would be visible on an ultrasound by six weeks after the woman's last menstrual period.) My doctor suggested that maybe my dates were off which I knew they weren't. I prayed, my family prayed and that week was so hard not knowing what was going on. The Doctor scheduled me to come back in a week. At 7.5 weeks pregnant I was back in his office for another ultrasound...same result. There was a sac there but it was empty. No baby. My heart sank. The Doctor wanted to schedule a D&C. I said no. I wanted to let nature take its course and “miscarry” on my own. I also still held out a small bit of hope that he was wrong and my faith gave me the strength to “wait and see”. He scheduled me to come back in 2 weeks at 9.5 weeks to see how the “miscarriage” was progressing. Those 2 weeks are a bit of a blur. I cried, I prayed, I tried to be strong in front of my son since he only knew Mommy was having a baby and nothing else. By the end of that 2 week mark I had been having some miscarriage symptoms so I was prepared for the news...again. I laid on the table at the Doctor’s office for the 3rd time at 9.5 weeks pregnant waiting for the ultrasound…but this time I looked away. I couldn't bear to see another empty sac on the screen. As I stared at the wall and the ultrasound began, I heard a gasp from the nurse and Doctor. The nurse said "Doctor, do you see what I see?"...I remember saying "no, no" and I think in that moment I meant "no way, what are you seeing?! What are you telling me!" It was a tiny baby measuring 2 weeks small. The Dr. was skeptical. He scheduled me for a full dating ultrasound at the hospital that afternoon. My parents drove from 3 hours away to be there with me. The Dr. asked me not to tell the tech what had happened earlier in my ultrasound with him. He wanted the tech unbiased and to just think we wanted a dating ultrasound. So, my Mom and I entered the room at the hospital and I laid on the table. The Ultrasound began. The tech wasn't saying anything for what seemed like hours when suddenly she said "and here's your baby's heartbeat..." as it loudly echoed through the speakers in the room. Tears streamed down my face and my Mom's. I was in shock and awe and thanking God for this miracle. I will never forget that moment or that sound. That moment changed my life. The tech was in awe as well when I told her my story of the past 3 weeks. On their ultrasound, Ellie was measuring just 5 days small and their machine has a 5 day +/- error rate. May I just say...THANK GOD I said no to the D&C 2 weeks prior. Ellie's birth…she was born and cried and was beautiful. I noted shortly after I got to hold her that she had a club foot and her breathing was odd. Ellie was born with clubbing of her left foot, jaundice and Laryngomalacia. She was hospitalized 4 times in her first year of life and had 2 major surgeries (one in which we almost lost her). She has also been diagnosed with 2 heart defects (ASD and Mitral Valve Regurgitation), brain defects, delayed myelination, club foot, hypotonia, Ocular Motor Apraxia, , severe sleep apnea, Scoliosis, Kyphosis, Koolen de-Vries Syndrome, Epilepsy, Global Apraxia and fluid on her spine. She didn't walk until just before her 3rd Birthday and didn't start talking until she was 5.5 years old. She receives PT, OT and Speech Therapy weekly. Ellie has been getting therapy since she was 4 months old. All of that said, Ellie was still a “mystery” for 5 years. She had all of these “issues” but no definite diagnosis. The Doctors were stumped. She had tons of genetic testing for various syndromes and all came back negative. The wait for those was excruciating but each time we got a negative. We celebrated but she was still a mystery. Ellie had 4 brain MRI’s, 2 Spinal MRI’s, a spinal ultrasound, PH tests, wore wires to sleep for 2.5 years because of severe sleep apnea, had numerous blood draws, 3 surgeries, EEG’s, Echos, sleep studies and more. During these 5 years Ellie was none the wiser. However, because of all that she had endured in her early years, she didn’t like people for the longest time. I think she thought everyone was a doctor/nurse and she associated them with fear/pain. We hibernated at home a bunch because it was so hard to take her out due to her immobility and social struggles. She struggled in the first years with communicating & learned sign language to help with the frustration. We continued to treat symptoms and at one time had 9 specialists she was seeing at Texas Children’s Hospital. At one of her Neurology visits in Feb 2013 her doctor drew blood for a syndrome he really expected she may have. I had heard this before but of course consented. It was a cancer/tumor causing syndrome that he said Ellie fit every marker for. I had to wait 4 months for those results. I told nobody except close family that this was a possibility because I didn’t want to worry anyone. In those 4 months I tried to keep busy and not think about it. In June 2013, Ellie went in for a spinal MRI. I’d been calling weekly to see if her lab results were back for the syndrome but as of that day, I was told they weren’t. The anesthesiologist came in the room to go over things before Ellie’s MRI and casually said ”so let’s go over her history. I see she has Koolen de-Vries Syndrome”. My Mom was with me and in that moment I actually had to grab the counter next to me because I felt my knees buckle underneath me. What? Ellie had a diagnosis? Are you mistaken? Do you have someone else’s chart? The fabulous news in this was that it was not the cancer/tumor causing syndrome that she was actually being tested for. However, I had never heard of KDVS (Koolen-de Vries Syndrome) so I still had no clue what I was being told or what it meant for my baby girl. They had found this in the particular testing they had done even though it wasn’t the exact thing they were testing for. The Anesthesiologist apologized over and over for dropping that “bomb” not knowing we didn’t already know. As you can imagine, as soon as Ellie was in their care and having her sedation I was on Google. I had to know. My baby girl finally had a diagnosis after 5 years. What did this mean? What’s next? Will she be ok? Over the next few months I was hungry for any information I could get about KDVS. While googling at the hospital that day I saw images of children who looked more like my Ellie than her own brother. It was astonishing. I knew we had found where she belonged. I keep in contact with Dr. Koolen through email and participation in his research studies. Ellie has the KANSL1 Gene Mutation version of KdVS which is super rare. So far she is only one of fifteen in the world to be diagnosed with this particular mutation. I believe she was the tenth to be diagnosed with this version of the syndrome. The most common type of KDVS is the Chromosome 17 deletion. Dr. Koolen is very involved and is doing research to learn as much as he can since this syndrome was only discovered in 2006. I wouldn’t change my Ellie for anything in the world although I do wish life were going to be a bit easier for her. Although she walks, she is still a bit unsteady with a wide gait. She has no depth perception and cannot navigate stairs/changes in ground level without assistance. Running for her is difficult. She gets tired easily due to the hypotonia. She has a stroller chair that she uses when a situation requires a lot of walking. Her speech is coming along but she is still hard to understand to those that aren’t around her daily. She is in Life Skills classes at her school with aids that accompany her to help her throughout her day. Ellie is extremely smart…however, she is not able to write because of her poor fine motor skills. She doesn’t chew her food so she has meals prepared for her that are soft and easy to swallow so she doesn’t choke. Ellie’s Epilepsy is a daily fear. Her eyesight is good but she still struggles with strabismus and Ocular Motor Apraxia. Her brain defects will always be there. She is sensitive to new situations, change in routine and loud events. She is getting better but it’s still very hard for us to take her to typical places you might take a child of her age. It means thinking through everything we do on a daily basis to see if it’s a good fit for Ellie. All of that said, Ellie is AMAZING! I'm biased but it's true. When she was hospitalized for the 3rd time at 3 months old & had her second major surgery I pushed for a brain MRI. I knew something wasn't "right". When the results came back, the Neurologist said "prepare your heart, she may never walk, never talk, never even hold her head up, we just don't know at this point". Well, guess what! She’s doing all of that and more! My miracle. My heart, my soul, my gift from God...Ellie inspires me. She is loved by so many & brings joy & inspiration to all. Ellie has awesome family who we adore, myself and her brother Ethan who love her unconditionally. She is such a blessing and my son says often how glad he is that God gave us Ellie just like she is. By liking her page, you are joining in our daily cheering for Ellie...for her to be exactly who she is! Love to all,
Christine
Ellie’s Proud Mom �