Regan: Goldenhar Syndrome

Inspiring life despite a diagnosis

Agenesis of the Corpus Callosum, Goldenhar Syndrome

Knowing Something is Wrong

During a routine ultrasound Regan was told that her son, Matthew, had some abnormalities with his brain. Regan shared, “Actually the doctor didn’t know a whole lot. He just said there was a problem with the sonogram, he had to Google it. He didn’t really give us a lot to go on. But he told me what it was.”

His diagnosis was agenesis of the corpus callosum. The corpus callosum in a piece of the brain that connects the two hemispheres. Agenesis means a lack or absence. Matthew was going to be born without his corpus callosum.

Agenesis of the Corpus Callosum

The exact nature of Matthews diagnosis was undetermined. People with agenesis of corpus callosum or ACC, vary in how they are affected. “The pediatrician said that a lot of people have this, and they never know, and they may live perfectly normal lives while other kids have very extreme cases. The biggest symptom that Matthew has is low muscle tone.” Reagan said.

Surprises in the Delivery Room

“Where is the pediatrician? This baby has issues.” These are the first words Regan heard as Matthew was being born via c-section. It was clear that something else besides ACC was going on. Matthew was born with facial abnormalities and was missing an ear.

The Only Person in the World

Matthew was diagnosed with Goldenhar syndrome and when his family did genetic testing, they discovered he has a random extra chromosome. ACC is very rare, Goldenhar syndrome is also very rare, and his extra chromosome, Matthew, is the only person in the world who has it.

Regan said, “What is interesting though is his extra chromosome, they looked through the bank of all the chromosomal disorders and there is not a match. He is the only one that we know of.”

The Challenges of Raising a Child with a Disability

“He is delayed, so just understanding that he may meet milestones that other kids..but just ltr and some things he may never meet. Just understanding all of his physical and mental needs is a challenge.” Regan said.

Matthew is fed through a G-tube, has a cecostomy to flush his bowels. One of the other issues they struggle with is speech. Matthew uses a communication board to express what he wants or needs.

There are a few people who know how to care for Matthew. Regan said, “Not really knowing how to deal with his needs, I think that puts a little more pressure on us as his parents. You don’t get a day off, because you don’t really have people that you can have your kids spend time with.”

Letting Them Know They are Loved

“One thing I always made a point of is that he always knows that he is loved. Because I didn’t know what to do everyday to help him and I just wanted to make sure that he was loved. The other thing I found out over the last 12 years is that there are other moms like me.” Regan said.

She continues saying, “Even though our kids have different conditions and different challenges, there are a lot of us out there that support each other. Social media has made the world smaller. It is easy to find people that you can connect with, find people that you know and get a support system.”

“I never would have planned to have a special needs child. I never would have volunteered to be in this position, but this has changed my purpose in life. I have a bigger desire to help other people. It is interesting how things that God puts into your life really causes you to look at everything differently. It makes everything more special.” Regan said as she closed the interview.