NGLY1 Profile: Kaylee, age 4

Patient: Kaylee, age 4

Parents: Kelsey and Daniel

Sibling(s): Justin, age 2

Prenatal:
At about 20 weeks pregnant my OB discovered that Kaylee only had a 2 vessel chord and was a lot smaller that she should be, at the time the chord was thought to be the only reason. We monitered her very closely from that point on. At about 28 weeks I started having twice a week non stress tests (NST's) and weekly ultrasounds. Almost every time I went in for her NST's she showed little or no movement even after they would use the buzzer to try to irritate her, which resulted in ultrasounds to make sure she was ok, she always checked out in these ultrasounds. At 33 weeks she had a large ultrasound at a specialty clinic to get exact measurements and a good estimate of her weight. She had a follow up ultrasound at 37 weeks which showed that she hadn't grown at all between the two. I went to my Dr. appointment directly after that ultrasound and they admitted and induced me that afternoon. After several hours of labor they noticed Kaylee's heart rate drop with each contraction and we had to do an unplanned c-section. She was born 4 lbs 2 oz and 18 in long. Due to her size she was admitted to the NICU and stayed for 8 days. Her lungs were fully developed and she appeared healthy, their only concern at that point was her ability to eat and maintain her own body heat due to her size. She was in an incubator for several of those days and spent 2 days under the billy lights for what they considered mild jaundice. She also had an NG tube placed to help her eat. By the time she was released at 9 days old she was eating on her on and cleared as healthy.


Diagnostic journey:
  At about 10 months of age we started noticing that she was more that a little bit delayed. She was rolling over but not scooting or crawling at all. She also had been very small her whole life, but it had not been concerning because she had been growing on her own consistent curve. At this point she had stopped growing and her pediatrician started showing a lot of concern. At 11 months of age we saw her first specialist, a GI Doctor. She had recommended an NG tube and continuing to a G-tube shortly after. We had to quit Kaylee's breastfeeding cold turkey and move her to formula so we could see exactly how much she was eating. After a few days of this we discovered that she was consistently taking only about 7 oz in an entire day, which is way too little!! At this point we transferred her care to our Seattle Children's hospital so that we could have it all done in one place, and they have fantastic financial aid. We quickly scheduled her NG placement at 11 months of age because of how little she had eaten and the had dropped for about 16 lbs to about 14lbs. Her weight showed immediate improvement from the NG tube. At the time she also had blood drawn and showed elevated liver functions and low white blood counts. About a year later we placed a G tube and she is still on this today.

  Soon after seeing her GI Dr. we started seeing a biochemical geneticist and a variety of other Dr.'s. Her geneticist suspected she had a mitochondrial disorder. She was pretty quickly tested for several of the more common ones via blood tests, and had a brain MRI, muscle biopsy and liver biopsy all at one time when she was about 15-18months old (I don't remember her exact age). Her MRI and muscle biopsy were clear, but her liver biopsy showed some cirrhosis of the liver, and at the time they told us she might eventually need a liver transplant. Since then her liver functions have continued to stay about the same and they no longer believe a transplant is likely to become necessary. As well all of the blood tests we did over the next 1 1/2 years came back negative for all known mitochondrial disorders they could test for. We had discussed at about 3 years of age a whole exome sequencing test but they were having some problems requesting them and at this point her Dr. thought that anything we found out would be informational and have no treatment so we held off on the testing for a while. We did her test in April of 2013 and got her results in September (almost 4 years of age, 3 years after we began testing) which showed she had mutated NGLY1 genes which her doctor knew nothing about. He did some research and in December we were referred to Dr. Hudson Freeze and from there we were able to meet Cristina and several other families. 

    In the mean time off all the big tests we also did hearing tests which came back normal, an eye exam which showed that her sight was normal. We did swallow studies, liver ultrasounds, bone age X-rays, hip and spine X-rays and countless blood tests to continue to check her liver functions and white blood cell and platelet counts. Which were both low at some points but normalize at times. We discovered that her spleen is destroying her platelets, which we still are not sure why but believe it's because her spleen is working too hard because her liver isn't functioning properly, we have discussed the possibility of needing a stint to be placed to bipass her liver if her spleen continues to be enlarged and work too hard.


Symptoms:
Kaylee has had:
elevated liver functions
low white cell counts
low platelet counts
cirrhosis of the liver
enlarged spleen 
very low production of tears
lack of muscle tone

Physical delays:
crawls (started at about 2 yrs of age)
pulls up to stand 
takes some steps with the use of a gait trainer (walker)
Is just beginning to try to use an ipad for communication, she has no words
She has very poor fine motor skills, has difficulty with purposeful movements to complete a task
She also uses foot braces for very tight heal chords, significantly tighter in her left foot.