Miley and Heterotaxy

Miley's story for Rare Disease Day 2014
When I was about 35 weeks pregnant Miley stopped moving so we went for an ultrasound. They found out that she possibly had only one kidney. We went back to the doctor and were told to get another ultrasound  and a second opinion.

The second opinion confirmed she only had one kidney and that her tummy was on the wrong side. So they induce me at 38 weeks and 6 days. It took all day (a Wednesday) for her to arrive. Five hours after she was born she vomited bright green bile. She was then air lifted to Royal Children’s Hospital Melbourne at 4 AM on Thursday morning. We drove there.

When we arrived at the hospital, she had all these scans and tests and the end result for Miley was Situs Ambiguous, stomach on wrong side (right sided), one kidney (solitary left kidney) (which we knew) but she also had malrotation of the gut, two speens (polysplenia), midline liver (liver lays across her body) and two uterus, two cervixs, two vagina and one out hole (Uterus didelphys dicolpos).

So at 2PM (she was less than 12 hours old) she has major bowl surgery to untwist her intestines and she had her appendix removed. Miley then  spent 2-3 weeks in the hospital.

Also the poor thing couldn’t get off the morphine as she had withdrawals three times. We had a meeting with the genetic team and they told us that Miley had been diagnosed with Heterotaxy-Polysplenia Syndrome and this was based on her features of left-sided heterotaxy which they believe caused her stomach to be on the wrong side, her intestines to be malrotated, liver to be midline and her multiple speens.

They also believe this caused her single left kidney and double uterus and cervix’s. The doctors told us that this “spelling mistake” came from a mutated gene that came from my husband and myself but they can’t tell us if Miley is a dormant or recessive.

Heterotaxy syndrome is a rare birth defect. It’s a very rare syndrome that affects the heart and other organs. 1 out of 4 million births are affected and 15% of them don’t make to their 1st birthday. Thankfully Miley isn’t in that 15%.

The beginning of the word (hetero-) means “different” and the end (–taxy) means “arrangement.”


What is your story? Share with us your stories and help to build a community to assist those affected by rare diseases to feel less isolated.. Thank you!

 

 

1 Comment
  1. I have had the pleasure of watching this gorgeous bubba grow into the bright and happy little girl she is today. Every day she proves to those around her that no matter what is going on in the world, tomorrow is a brand new day worth waking up for. Although she is too little to know what she has been through in her short life, she still brings a smile to everyones face with her strength. Her parents are amazing people, doing everything in their power to keep Miley smiling.. a truely admirable little family and I love you all xxx

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