Emma's first diagnosis was shortly after she turned 1 year old. She was diagnosed with chromosome abnormality Ring 16. We were told she was 1 in only 8 cases ever diagnosed worldwide, and that her chances of talking and walking were 50/50. That she may be severely mentally retarded, and that there wasn't any information past the initial diagnosis of the other cases for them to give us. We left with a diagnosis and that's about it. As we got in the elevator to leave the hospital I had no idea what Ring 16 was. I had no idea if my child would ever walk or talk. I had no idea of the medical issues we would face. And I had no idea what to do next. I rushed home to search the internet. Guess what I found? NOTHING! My baby girl had something so rare, you couldn't find information on the internet. I was in shock.
I cried some more, I was angry, I was sad. After 3 days of feeling bad, I thought to myself, why...why did I feel this way, her diagnosis didn't change the way I felt about her, it didn't change her happy, high spirited, personality, or her infectious laugh. I didn’t love her any less, so why would I waste any more time being upset about it. Now that surely doesn't mean it hasn't been a roller-coaster of emotion. It's been tough. Emma averaged about 4 hospital admissions (usually 10 days long each) and about 12 ER visits a year. We became regulars at Hope Children’s hospital. She received occupational, developmental, physical, and speech therapy each week. She began to learn American Sign Language because she was unable to talk, and at age 14 she is nonverbal still. She has had her fair share of medical devices, a harness she wore the first 4 months of her life for her double hip dislocation and dysplasia. She wore foot and ankle orthotics, and used a walker. She used many different typed of talking devices to communicate, and drank formula I could only order from 1 pharmacy near the hospital as she had both a milk and soy intolerance, we used a nebulizer for her daily breathing treatments of steroids and medications, and more meds than I have had my entire life. She often had pneumonia, RSV, and just about every bacterial and viral infection in her lungs and GI tract. She has had fevers as high as 105.9. One of them causing her to have a seizure in the back seat of my car as I watched helplessly while I drove to the ER by myself.
We found cysts in her abnormally sized kidneys that continue to multiply, spots on her heart, lesions on her brain. She has seen over different 12 specialists at Hope Children's Hospital. She has had two other surgeries so far. It's pretty serious every time Emma gets sick or is healing from surgery, her immune system plummets to a critical level. Everything hits her like a brick wall. Her tiny little body always struggled to fight things our bodies did naturally and much quicker. Emma has spent her life below the 5th percentile for both height and weight, making her look years younger than her peers. Even today she is about the size of a 10 year old.
18 months ago Emma was diagnosed with scoliosis. A not so rare condition for teenage girls, but of course she had the rare kind, the one in every 10, 000 cases of congenital scoliosis that made her un-braceable. We did an x-ray; her curve was at 26 degrees. We went back 9 months later, did another x-ray, and it had progressed to a double curve, 40 degrees on top and 29 on the bottom. We were then told when her curve hit 50 degrees we would need to discuss spinal surgery. Another 9 months later she progressed to 68.7 degrees on top and 39.4 on the bottom and needs her surgery soon. If her scoliosis gets any worse it will start to restrict breathing. She also struggles to walk or stand for too long. Every time Emma grows, her curve worsens. She is scheduled for surgery on March 21st. It will be a 6-hour spinal surgery to install 2 rods from her T2 to her L1. The rods will sandwich her spine and held be in place with screws in each of the vertebrae in between.
Emma has another RARE chromosomal mutation called Tuberous Sclerosis. Emma is now the 1 case to have both conditions. All the things she had been diagnosed with over the years, all tied together. 14 years of unanswered questions, feeling alone, and feeling like the doctors didn't really care to learn more about Emma and her conditions because it was too rare. Her new doctor spent a couple of hours with us, and he pieced it all together! We will be following up with a new genetic specialist, and we will need to monitor her major organs the rest of her life to watch for tumors. Tuberous Sclerosis causes tumors on your major organs, and with tumors of course, comes the anxiety they can turn cancerous.