A routine prenatal ultrasound showed Katherine’s baby had shorter limbs than was typical.  Baby Arabella was misdiagnosed with fatal disorders twice while in utero.  Katherine and Jeff refused to terminate the pregnancy and they are so glad they did.  It wasn’t until she was born that they got an official diagnosis of Ellis-van Creveld syndrome.  Arabella is now a beautiful 2-year-old who has touched many lives.

Parents Continue Pregnancy After First Fatal Misdiagnosis

Katherine and Jeff got a more detailed ultrasound at a university hospital.  “When we went for that scan, both of us were really at peace going into it,” Katherine said.  They were fine with the thought of their daughter living with them for the rest of their lives.  All they wanted to know was what was wrong with her.

The first person they met with after the scan was a genetic counselor.  She told them that their baby was not doing very well.  “That was such a shock because we had just watched her dance across the screen, and she was so full of life,” Katherine said.  She explained that Arabella’s arms, legs, rib cage, and thoracic cavity were all much smaller.  Those indicators meant she had a fatal form of Dwarfism called Thanatophoric Dysplasia.  It was likely her rib cage would not grow bigger than it currently was.  Because of that, there wouldn’t be sufficient lung tissue for her to breathe and she would die.

Katherine and Jeff asked another doctor present if they would have hours or minutes with Arabella after she was born.  She couldn’t give them an answer because no one had seen a live birth with this diagnosis.  It’s not because the babies didn’t make it to birth, all the parents just chose to terminate the pregnancy.  “That was heartbreaking and a little shocking to hear,” Katherine said.

The next head-doctor they spoke with made it clear he did not approve of their decision to continue the pregnancy.  He tried his best to convince them that terminating was the least-painful path going forward.  He also reminded them that they could end the pregnancy at any time because this was a fatal diagnosis.

“We didn’t choose the day she was conceived, and we refused to choose the day that she would die,” Katherine said.

Second Fatal Misdiagnosis Give Parents Hope

Katherine and Jeff had monthly appointments and ultrasounds at the university hospital.  The following month at their appointment, Arabella’s thoracic cavity had grown four weeks’ worth of time.  The same thing happened the following month.  “We were watching this rib cage grow unexplainably, and the second time it grew that much, they told us they didn’t think their initial diagnosis was correct,” Katherine said.

A month before Arabella’s due date, their medical team diagnosed her with Short Rib Polydactyly syndrome and a major heart defect.  Once again, this diagnosis is a fatal form of Dwarfism.  “The very fact that they misdiagnosed the first go-around gave us some confidence that they may have misdiagnosed the second,” Jeff said.  The couple had hope going into delivery day.

Ellis-van Creveld Syndrome Diagnosis Means Chance at Life

The day Arabella was born went better than anyone expected.  “She never went to the NICU, she was on the regular maternity ward.  Three days later we headed home with no oxygen or monitoring technology, just a miraculously, breathing baby girl,” Katherine said.  It was a couple of months later that Arabella was diagnosed with Ellis-van Creveld syndrome, a sub-type of Short Rib Polydactyly syndrome.  There are five sub-types of Short Rib Polydactyly syndrome and Ellis-van Creveld syndrome has the highest probability of living.

It turns out that both Katherine and Jeff carry the gene for this type of Dwarfism.  The gene is auto-recessive which means if both partners carry it, there is one in four chances of having a child with the disorder.  Katherine is currently expecting their third child, Shiloh, who also has Ellis-van Creveld syndrome and a heart defect.  Both their heart defects are repairable which is what’s important.  Katherine and Jeff are forever grateful they didn’t terminate the pregnancy with Arabella.  They have hope everything will work out for Shiloh because it did for Bella.  “This child has life and that’s all that really matters.  The other things you figure out as you go,” Katherine said.

Daughter’s Story Shared Far and Wide

Arabella has an unimaginable effect on many people.  After the initial diagnosis, Katherine started blogging about her.  She continued to do so throughout her pregnancy.  The day she was born, there were around 100,000 hits.  “On the blog that day, we could feel a great multitude of people rejoicing at the fact that she lived,” Katherine said.

Arabella’s wonderful spirit and personality impact many people closer to home too.  Whenever they are out and about people gravitate towards Arabella.  She has a way of engaging with people and spreading joy.  Sometimes they get comments about her size and they don’t hesitate to share about Arabella’s Ellis-van Creveld syndrome diagnosis.  They want to bring awareness and show how happy they are that she is still with them.

“At this point, we don’t even see Arabella as any different than her older sister,” Jeff said.  She behaves like any other child her age and brings her parents endless joy.

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