The doctor gave Nicole a grim diagnosis for her unborn son, Jacob. He found a large cyst growing on the back of his brain which caused Jacob’s brain to form differently.  She was given the option to terminate the pregnancy.  The doctor didn’t think Nicole would be able to carry Jacob to term.  Before making a decision, Nicole and her husband went for a second and third opinion, with each new opinion they got they were given more hope.  After Jacob was born, he was diagnosed with a single gene mutation and Tracheomalacia.

No Former Diagnosis: Learning as You Go

Jacob’s single gene mutation has never been documented before.  “We are learning about Jacob as we go,” said Nicole.

Jacob is now 15 months old and has spent the majority of his life in the hospital.  He is delayed but the cause is unknown.  Specialists aren’t sure if it is because he’s spent over a year in the hospital or because of the differences in his brain. Jacob is being watched by neurologists because this is something completely new in the medical field.  “When they look at the brain scan, they can’t find one similar to Jacob’s,” Nicole said.

During one of the brief periods of time when Jacob was at home, he was having sleep apnea spells.  This led him to the Tracheomalacia diagnosis.

The Hardest Part is All the Unknowns

When Nicole was pregnant, she was told they would have to wait to see how Jacob would be affected by the cyst.  When you’re given news like that, she said, “You don’t know what to do with it.”

Having a single gene mutation diagnosis doesn’t mean anything because of all the unknowns.  They don’t know how long he will live, what his mental capabilities will be, or what his life will be like.  Once the reality of it sunk in, they relied heavily on her special needs education training and all the resources available to them.

Spending so much time in the hospital has been difficult.  “We’ve almost lost him quite a few times,” Nicole said, “and no one can tell us why or what’s causing it.”  Jacob has had major surgery on his trachea to try to fix his Tracheomalacia, but he still has sleep apnea spells.

When he isn’t in the hospital and they go somewhere, Nicole has to take oxygen and suction equipment in addition to his oxygen monitor.  All the time in the hospital and complications with taking Jacob out has been a huge adjustment for Nicole and her husband.

With all these challenges, “you start to see who your true friendships are,” Nicole said.  Fortunately, their family has always stood by them.  However, Nicole and her husband lost many friends who couldn’t handle their “new” life.

Finding Joy Despite Diagnosis

Having a child with single gene deletion is not an easy journey but they would not change anything about him. “The joy Jacob brings us is just one of a kind,” Nicole said.  Jacob has defied the odds and done things doctors didn’t think would be possible.  That gives Nicole so much joy and hope.

Jacob has taught them to enjoy the little things and live in the moment.  Nicole remembers the first time he smiled and the first time he babbled.  She says its the little things that happen every day that matter.

From the very beginning, their extended family has been supportive and helpful.  One of Nicole’s sisters trained in using all of Jacob’s equipment so she can take care of Jacob so Nicole and her husband can have a break sometimes. Because of the Tracheomalacia, Jacob has severe breathing problems if he gets sick.  For that reason, much of the extended family hasn’t met Jacob in person, but they “know” him from pictures and stories.

Words of Advice: “Appreciate the Little Things”

Letting go of any expectations she had about having children has helped. “Let your child be an individual and allow them to develop in their own time, in their own ways,” Nicole said.  It is difficult for them to do this but they do it by living in the moment.

Nicole says to Celebrate every milestone and victory is what gets them through each day.

Having multiple streams of support help them on tough days as well.

The doctors and nurses at the hospital know Jacob well and always take very good care of him.  After Jacob was diagnosed, Nicole read multiple blogs to find parents who were in a similar situation as her.

When she finds people who have similar situations, she sends them an email to ask them questions.  Nicole belongs to a “tribe” of moms who offer advice or a lending ear when it’s needed.  “Surrounding yourself with people in similar circumstances is super helpful,” Nicole said.

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