My beautiful, thriving daughter Charli is now over two years old. It has been a challenging two years and she wasn't always thriving. It took until Charli was 10 months old for her to be diagnosed with Kabuki syndrome but the first sign came at our anatomy ultrasound around 20 weeks gestation: She only had one kidney.
I'm generally not one to over worry about things. She otherwise seemed to be healthy and the one kidney was functioning fine with plenty of amniotic fluid. That was all I needed to know. Hippie Husband took a little longer to come around to this mindset, but eventually he did. They monitored my pregnancy closely with regular ultrasounds (also to make sure there was indeed only one kidney). I did have Braxton Hicks contractions which did land me in the hospital once. This prompted regular stress testing. All of these came out fine.
I had an uneventful vaginal birth at full term. She was a healthy 7 lbs 2 oz, 19.75 inches. Her head was tiny (which we knew from her ultrasounds) but everything else seemed to be normal. There was a little bit of meconium in her amniotic fluid when my water broke, so they monitored her a little more closely for signs of distress. Mostly they monitored her temperature and blood sugar levels which had to reach a certain level before we could be released. Otherwise they would make us feed her formula. Thank goodness, we escaped that although she did seem to struggle with breastfeeding. Her body temperature also got a little low so they had me hold her skin-to-skin (why don't they have you do this anyway - noted for next time). She failed her hearing screening. They assured us that was very common, especially with vaginal births and with girls. We scheduled a second screening for two weeks later (which she did pass, just barely) and off we were, one happy family of three!
Although I was new at being a mom, I felt like I had a good idea of what I was doing going into it. You know, I have three nieces and all my friends have kids. I know what to expect. Oh, wait, it's true what they say - "Every kid is different." My kid had a hard time breastfeeding and at her two week check up had lost nearly a pound. I was told I had to supplement Charli with formula to get her weight up. I cried. She guzzled down the formula like she was starved. I cried some more. I had been starving my baby! I quickly requested to have a breast pump. Apparently there is an art to pumping just like there is to breastfeeding, and, let me tell you, I have no artistic ability. But I did manage to pump until she was five months old. We'll get to that later.
My kid also didn't sleep very well. She wasn't colic but she kind of was. I shrugged it off. I mean, babies cry. That's what they do. But something wasn't right. Now that she was getting a full tummy she started throwing up quite frequently after eating. Her doctor said she has reflux and prescribed some Ranitidine (Zantac). This seemed to help for awhile but eventually we'd switch to another medication to see if that worked better. She also started to display signs of stomach pains and was starting to get constipated. I decided to take her off of the medication since it didn't seem to be helping much and I felt like it was causing her the other issues. So I did what I could following the advice to feed smaller amounts more frequently, wait to lay her down after eating, and elevate her head. We managed ok. Every so often she'd projectile vomit EVERYTHING up and everyone would have to change and we'd have a big mess to clean up. The worst was always when it happened in the car. I'll never forget the time I was with my mom. She of course thought Charli was dying (not literally but you know what I mean). It was the middle of winter and in the evening. I had to pull off the road and get her out and of the car seat and comfort her. Understand, when she threw up, it came out of all openings. It's really unsettling to was a bunch of milk come out of your baby's nose while she gags and sputters like she can't breath. As she writhes in pain, scared I imagine since it probably feels like she's drowning. It's extreme and unusual, but after so many times of it happening, I was used to it. It was our normal.
I returned to work when Charli was only 2 months old. I continued to pump. It was difficult. My milk production wasn't all that great. I realize now that it was probably due my diet lacking in sufficient calories combined with my stress and lack of sleep. It's hard to eat enough and get enough sleep and not be stressed when your baby doesn't sleep and is never happy without being held. It felt like I was constantly attached to a machine. Even in the middle of the night. In between when she woke every two hours. I remember bottle feeding her in a stroller while I pumped. It was awkward, but I found some magical way to make it work.
As she got older I noticed she had very jerky movements. Her arms were constantly flailing. At 4 months old my aunt pointed out Charli's eyes. When it's your own child and you see them everyday without seeing other children at the same age you tend to overlook or miss oddities. At least in this case I did. Her eyes had a constant movement and she wouldn't look at you or focus on much of anything except lights. She loved bright lights. At her 6 month check-up her pediatrician immediately said we need to have her eyes checked. Apparently she had noticed it at 3 months but wasn't sure. At 6 months it was unmistakable. The eye doctor diagnosed her with nystagmus, which is really just the medical term that describes the eye movement. It came at no surprise as I had already done my research and basically arrived at the same determination. The cause was the real question which of course he could not answer. He said her vision was limited but he would be unable to determine to what extent it was impaired until she was older. He referred us to a neurologist and we went back to our new life.
Remember how I said earlier that I stopped pumping at 5 months? That's when Charli started getting formula, completely being on formula by 6 months. Charli was just over 6 months old we spent Valentines Day in the hospital while she was treated for RSV. I didn't give it much mind at the time, but it's very significant to me now as well as the fact that she lost her hair at this time. It happened gradually and again I overlooked it. As I look back at pictures now, I can't believe this wasn't alarming to me or anyone else. She also soon started to show clear digestive issues with constipation becoming a real concern.
Her development progressed, only mildly behind on milestones. Nothing unusual or notable. She was rolling over by 7 months and sat on her own by 9 months. It was also about 9 months that she got an ear infection which of course she was prescribed amoxicillan for. Shortly thereafter she another respiratory infection. The doctor assured us this was common following an RSV infection and they prescribed albuterol nebulizer treatments. Somewhere around this time we also started giving her Miralax as recommended by her doctors to combat the constipation.
This was also about the time we finally got in to see the neurologist. At her consultation the doctor pointed out that Charli had low muscle tone, or hypotonia. She ordered an MRI to see if we could find something that could be causing the nystagmus. She also suggested we see a geneticist.
On June 14, 2012, the geneticist diagnosed Charli with Kabuki Syndrome. She based this on her medical history and certain physical characteristics such as high arched, broken eyebrows, long eyelashes, large palpebral fissures (large openings of the eyes), flat broad nose, a protruding ear, fetal finger pads (the pads of her fingertips are conical or come to a point), short pinky fingers, high arched palate. Her diagnosis would later be confirmed by a blood test that stated:
This patient was found to be heterozygous for the above described alterations in exons 4 and 34 of the MLL2 gene. The p.W141X alteration in exon 4 has not been previously reported in the literature; however, given that it is a truncating alteration, it likely confirms a diagnosis of Kabuki syndrome. The p.R2860H alteration in exon 34 has not previously been reported in literature, thus its clinical significance is unknown.
When we received this diagnosis, I will never forget the doctor saying how sorry she was and how "this is always the hardest thing to have to tell parents." With her serious tone Hippie Husband and I both kept waiting for some bomb to drop like she only had 6 months to live. All she told us was that she'd have some developmental delays. Well, we already knew that. With her hypotonia and nystagmus we were already anticipating developmental delays. This time we were sent home with a packet of information, resources, referrals, and lots of unanswered questions.
To be continued...
