Apert Syndrome Creates Joy in Family

Born looking different

Megan recalled the first moment she realized that something might be wrong with Edison.  She said, “The second they laid him on my check after he was born, he looked a little different, but they had used a vacuum on his head, so I wondered if maybe that’s why he looked different.  Plus, when they first come out, they are gross, so I didn’t really know, but they immediately took him away to the table. Then I sensed a weird feeling in the room, like a weird vibe, and I thought, ‘Oh crap, something is wrong.’”

Upon seeing his son for the first time, Josh noticed that all of his fingers were fused together.  Thinking that was it, Josh said, “Oh okay, so he has webbed fingers, no problem, we can deal with this.”  After spending time with the nurses, they started to notice other abnormalities.

Apert syndrome

A few hours after he was born, a pediatrician visited Megan and Josh.  He told them that Edison either had Apert syndrome or Pfeiffer syndrome.  Upon doing further research he confirmed that he thought Edison had Apert syndrome.  He referred them to Primary Children’s Hospital.  

When they arrived there, they met with a geneticist, ENT, plastic surgeons, and neuro surgeons.  The geneticist confirmed that Edison did have Apert syndrome. 

Apert syndrome is a genetic disease in which the seams in the skull close earlier.  This results in an unusual face and head shaped. Individuals with Apert syndrome typically have a flat, elongated forehead, and bulging eyes due to shallow eye sockets, and fusion of the digits.

Requiring several surgeries at a young age

Edison was four months old when he had his first surgery, a craniotomy. Josh said, “They had to go in and create a way for his skull to be expanded to make room for his brain.  We’ve done two of those pretty intense, long surgeries. I like to think of it like braces for your head. They put devices on his skull that we had to turn twice a day, and we would open his skull a millimeter everyday.” 

Edison has also had several surgeries to separate his fingers and toes.  Josh said, “He has had all of his fingers released and that was two separate surgeries, where they have to do every other finger on the releases to make sure the blood supply is there so they don’t lose the fingers.”

Around his first birthday, Edison was also diagnosed with hydrocephalus.  This required him to have a surgery to place a shunt in one of the ventricles in his brain.  A shunt is placed to help drain spinal fluid from the brain, preventing too much pressure from building up.

The joys of having a medically complex child

Despite all the surgeries, Megan said, “He is the most happy, pleasant kid in the world.  I feel like you couldn’t ask for a better, more pleasant child.” They have learned to find joys in the little things.  Their first child was walking around nine months, something Josh said they were excited about. However, when Edison started walking when he was almost three, Megan said, “..we were crying, and it was a way bigger deal.”

Josh says he is learning to celebrate the simple things with Edison.  He said, “..the sweet things are sort of the things that we celebrate everyday with our daughter, but for him, they take more time, more development and a lot of work.”

Choosing Apert syndrome over again

“That’s easy.  Even though it’s challenging.  The challenges are so worth it..I don’t even feel like it’s a question of is he worth it. He is pretty high-functioning, and he’s happy and pleasant, he’s just like a normal little boy who has to have a lot of surgeries. ” Megan said in reference to if she would choose to do it all over again.  

Josh wholeheartedly agreed saying, “..when you care for a child who requires a different kind of attention, your capacity to love is increased dramatically. I would just tell anybody that your life changes in the most remarkable and positive way.  There is very little downside. Yes, we have to watch our son hurt, and that’s the hardest part, but the happiness and the joy and the progress overshadows any negatives a hundred thousand million times over.”

The post Megan and Josh: Apert Syndrome appeared first on Orangesocks.org.

Carrying on despite two fatal diagnoses 

Fatal Misdiagnosis

At their 18 week ultrasound, Katherine and Jeff were expecting to find out the gender of their baby.  When the ultrasound tech got quiet, they knew something was wrong. Katherine recalls, “I noticed that the person scanning kept going back to Bella’s long bones and her arm and her legs multiple times.” Her doctor decided to draw her blood and screen for the common trisomy disorders.  When those came back as negative they were referred to another hospital.

“The doctor’s first sentence, which I’ll never forget, was, ‘Your baby is not doing very well.’..the doctor went on to explain that not only were her arms and her legs measuring shorter than average, but her thoracic cavity and rib cage was much smaller as well. This had led them to a diagnosis of what’s called thanatophoric dysplasia, which is a form of dwarfism, but it’s a lethal form of dwarfism.”  Katherine added.

Choosing not to terminate despite being encouraged to

Despite the doctor’s heavy influence, Katherine and Jeff decided to continue with the pregnancy.  Katherine said, “..both of us agreed that there was no chance that we wanted to terminate this. We knew that we might not get much time with her, but we wanted to give her any chance she had.  We didn’t choose the day she was conceived, and we refused to choose the day that she would die.”

To everyone’s surprise, during another ultrasound, there was growth in Arabella’s rib cage.  Something that shouldn’t be happening with her diagnosis. A month later, more growth. This prompted doctors to re-evaluate the previous diagnosis.

Short rib-polydactyly 

With an incorrect previous diagnosis, doctors were struggling to figure out which form of dwarfism Arabella had.  Finally, they came up with another diagnosis, Short rib-polydactyly syndrome.

 Katherine recalled, “They thought they saw an extra finder and an extra toe on the ultrasound..it was at this point they told us that Short Rib Polydactyly syndrome once again is 100% lethal.”

Misdiagnosis brought confidence

Jeff had this to say about the doctors’ misdiagnosis, “The very fact that they had misdiagnosed the first go-round gave us some confidence that they may have misdiagnosed the second, so while it was hard and we had not scientific basis for hope at that point, we had hope.” 

“They weren’t bringing her back to die”

Prior to the birth of Arabella, Jeff and Katherine were prepped on three possible scenarios of how the delivery might go; all three were grim.  Katherine shared, “My husband has researched burial plots, and I researched and found a foundation that send burial gowns made out of old wedding dresses, and though we had hope, we were also prepared for the possibility we would not bring our daughter home.” 

Katherine described the birth of Arabella as, “She was born on a Sunday around 12:30, screaming her head off, which I knew immediately was a good sign..they took her right away for assessment..I asked if someone could go please check on my baby and tell me how she’s doing.  They sent someone over to the assessment room and she came back a few minutes later and said, ‘Your daughter scored nines on her APGAR. She’s doing great, and they are going to bring her back to you in a couple of minutes.’ 

They weren’t bringing her back to die; they were bringing her back a very pink, very much breathing beautiful baby girl.”

A second misdiagnosis

After Arabella was brought back to Katherine, she never left her side again in the hospital.  They were sent home after three days with no breathing assistance and no monitoring technology.  A few months after she was born, they met with a genetics specialist who diagnosed Arabella with Ellis-Van Creveld or EVC.

Both Jeff and Katherine carry the recessive gene that contributes to EVC.  They have a one in four chance of having a child with EVC. Katherine and Jeff are expecting another child who also has EVC.

A final word

When asked to share her final thoughts, Katherine had this to say, “My final word is give your baby a chance.  We wouldn’t trade what we have been through for 10 healthy babies…surround yourself with good community and sit back and watch what the Lord might do.  

She continued, “It can be pretty incredible to see.  It’ll give you a perspective on life that you wouldn’t want to trade for anything else.”

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