Bella - The Light of our Lives
Greetings! We have 2 children, Bella - 4 years old, and Matthew - 2 years old. Bella was born at 37 weeks 3 days after a successful round of IVF. My pregnancy was difficult as I was very sick for the first four months, had pre-term labor at six months and was hospitalized for toxemia at 34 weeks. All of this while my husband, who is active duty in the U.S. Navy, was on a six-month deployment. I’m happy to say, that he made it home six days before Bella arrived.
My labor was pretty uneventful, I was almost six centimeters dilated when we arrived at the hospital so I got settled in quickly and received an epidural. I was able to rest for a little while and then the decision was made to break my water. At that time, it was discovered that I had meconium. Little did I know we were about to embark on a life long journey.
When Bella was born, she didn’t cry and she was limp. She weighed 7 lbs 12 oz and was 20 ¾ inches long. They suctioned her, she was given oxygen and she “pinked” up and I was able to hold her. We thought that she was fine but she started having a hard time breathing so after a few minutes she was taken to the NICU. Once in the NICU, it was discovered that her right hip was dislocated and she had a fever so antibiotics were started and the tests began. The next day, they explained to us that she was suffering from hypoglycemiai and hypocalcemia. She was started on a calcium supplement to bring up her levels and we also decided at that time to start supplementing with formula since she was also having a difficult time latching on to nurse and had a very poor suck. She just couldn’t seem to get the whole, suck, swallow, breath. As the days followed, it was discovered that Bella had a high arched palate, a pinhole on her back in between her butt cheeks. They checked her palate and we decided that this was probably why we were having a hard time nursing and why she was having such a difficult time feeding. Her pinhole was closed so spina bifidai was ruled out. Her head was small (microcephalyi) but her ultrasound was normal so they finally decided to let her come home after eight days.
She seemed to be doing well and we continued to try nursing but, after eight weeks or her not “getting it”, we used what breast milk we had in the freezer and then switched to formula. Things seemed pretty normal for the first several months, she grew and ate and was a very happy baby. The only problem we had was finding the right formula. We discovered that Bella was lactose intolerant and once we switched her to soy all was well.
At her six-month appointment we discussed our concerns with our pediatrician at the time that Bella didn’t seem to be hitting milestones. She wasn’t rolling, tracking very well and didn’t seem to have the “strength” in her legs that most babies do. Like many of you have experienced the pediatrician tried to tell us there was nothing wrong with her, she was our first baby, and they all develop differently. He asked us to wait a month and if we didn’t see a change he would reevaluate and go from there.
Obviously, nothing changed and we were referred to have an evaluation done. It was determined then, that she was developmentally delayed in all areas and Bella started receiving services through the Infant and Toddler Program. We started out with PT, and then added OT. Shortly thereafter, we moved to our current home. It took a couple of months to get all of her services started but once we got things going, it’s been non-stop. We have a wonderful team of doctors and therapists who have worked with us and stood by all the decisions we have made for our daughter.
In the winter of 2006 Bella started having what we thought were absence seizures - starring spells. Her eyes would be open and glazed over with her lips turning blue. They only seemed to happen when she was getting sick and running a fever or a few days after her fever broke. She had tests run and everything came back normal. The doctor suggested we medicate her but we chose to wait, as the medication, at that time, could have further decreased her muscle tone.
In May, we went in for Bella’s regular appointment with the genetics doctor. All was well with Bella and the doctor was please to see her progress. It was on this day that we first heard about KS. With the help of our doctor presenting Bella’s case to fellow geneticists one of them saw many of the Kabuki characteristics in Bella: long palpebral fissuresi, arched eyebrows, prominent eyelashes, depressed nasali tip, persistent finger fetal pads, postnatal short stature, hypotonia, hyperextensible joints, behavioral difficulties, recurrent infections (ears), small mouth, high arched palate, and seizures.
By further reviewing her history and photos that were taken of her in their office from December 2004 through May 2006, the doctors felt that we finally had a diagnosis to explain everything. It was a lot to take in so we made an appointment to go back in July so that we could do our own research, and come back with questions before she was officially diagnosed. I’ll never forget sitting in front of the computer and being in total amazement. We had finally found many of our unanswered questions answered and pieces to the puzzle started to fit. I immediately joined this wonderful support group and started reading everyone’s posts and reading their stories. I couldn’t get over how I could read someone’s history and say “wow, that sounds like Bella”.
Then, in June we were outside playing and all of a sudden Bella was on the ground having a full-blown seizure. That was the scariest day of my life. She was down for a good 15-20 minutes and once she came out of that she went into a starring spell that lasted another 10 minutes. She was taken to the hospital via ambulance only to be sent back home. They wanted to put her on medication but they didn’t want to do any tests to see why this was happening. They did an x-ray of her head to make sure that she didn’t crack her skull as we didn’t see her when she fell to the ground. But they didn’t want to do an EEG or MRI to see if there was a cause for the seizure. I was not comfortable with giving my child medication without any tests being done first and I explained that to the doctors in the emergency room but they didn’t think there was a need. So, we were discharged and told to follow up with our regular doctor in the next few days.
The next day, Bella turned completely blue while we were in the car. It didn’t last long but it scared me so I called her pediatrician at home and explained to her what had happened. She was livid as she hadn’t been notified of what had occurred the previous evening and she admitted Bella to the hospital for further testing. During her hospital stay, a different neurologist consulted on Bella’s case as our doctor was out of the country. Not only did this neurologist diagnose Bella with epilepsy but he also was in agreement with the geneticists that Bella also had Kabuki Make-Up Syndrome. He had previously seen patients with KS and was familiar with it. He felt that Bella met all the criteria for the diagnosis. We spent a few days in the hospital getting her medication started for her seizures and making sure that she was fine before we came home.
In July 2006 after three years of testing and many unanswered questions, Bella was diagnosed with Kabuki Make-Up Syndrome. A month later, Bella got sick and was hospitalized for a week with salmonella poisoning and rotavirus. It was at that time, that we discovered Bella had a low immune system. Again, I read a post on the group’s site and immediately questioned it since we were in the hospital and low and behold another answer as to why she got sick so much. Can I just say, I LOVE THIS GROUP!!
Once Bella got over the salmonella poisoning and rotavirus, she started a daily dose of an antibiotic. She stayed the healthiest I think she had ever been in her whole little life. It was at that point when we really started to see many changes for the better in her. We did this for eight months and then weaned her off the medication to see how she would react. I’m happy to say, that we have been sick free for months. I’m hoping that we can continue on this road because it has been wonderful not having her sick every few weeks and on medication after medication.
Today, Bella is 4 years old and she’s happy, healthy and full of life. She attends a special education preschool program three full days, and one half day, and goes to an autism treatment center all day on Thursday. She receives PT, OT & SP at school along with discrete and trial training/ABA therapy and also goes to private therapy in town for PT, OT & SP. We, like most people, have our good days and our bad days. But what matters most to us is that she continues to thrive and progress in all areas of development. She has taught us many things in her life, especially PATIENCE. THANK YOU to this wonderful support group for their love, understanding and compassion and allowing us to share our story with you.