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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.”

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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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Receiving the Best Gift Ever

20-week ultrasound reveals limb difference

Up until their 20-week ultrasound, Casey had a perfectly uneventful pregnancy.  She expected for the only news that day to be the gender of her baby. She recalled, “We knew that something was wrong as she (the sonographer) kept coming and going from the room.” Casey looked on the screen and noticed she couldn’t see her baby’s hands.

She loudly asked the sonographer, “Can you please just show me where his hands are? Please show me his hands.”  The sonographer was unable to locate his hands, which confirmed Casey’s instinct that something wasn’t right.  

Medical staff went above and beyond

Casey’s doctor was not in the office that day but she was able to speak with them over the phone.  She informed Casey and her husband that their son had a limb difference. Not being familiar with a limb difference as extensive as Owen’s, she was unable to give a prognosis for the rest of Casey’s pregnancy.  “I just remember crumbling to the ground, feeling completely crippled in pain,” Casey said.

One of the biggest blessings of that day was the sonographer.  She knelt down on the floor next to Casey and held her hands. They cried together and she reassured Casey that everything was going to be okay.  “A lot of the other parts of that day escaped me because of the pain, but I will always remember the love that woman showed,” Casey said.

Casey and her husband were sent to a specialist that day to get more information about what to expect for the rest of the pregnancy and after birth.  

C-section wasn’t in the plans

When she first discovered that she would deliver Owen via c-section, Casey said, “I was just really upset at the thought of having a c-section.  I had my thoughts and plans for a birth.” However, it ended up being a relief for Casey.

She felt that her doctor was a pillar of strength for her throughout the course of her pregnancy and encouraging to what Owen’s life would look like.  Casey said, “It was almost a relief when we found out that we were going to schedule this c-section, because that was my assurance that this woman who had walked me through what was probably the most difficult situation of my life was going to be with me to deliver my baby.”

Not noticing his differences

Casey described how she felt about meeting Owen.  She said, “I was really nervous..what if I meet him, and the only thing I can think about are his differences?”  To her surprise, when she saw Owen for the first time, she described him as “genuine perfection”.  

Casey and her husband said to each other a day after he was born, “I don’t see anything but Owen; this is our baby, and everything is perfect with him, and he’s just the way that he is supposed to be.”  

Grieving during pregnancy 

Casey described her biggest challenge with Owen was when she was pregnant.  She said, “I had to work through a lot of grief and a lot of sadness surrounding his diagnosis, and i think that had much more to do with my own heart that it had to do with Owen.”

Casey had several friends who were having normal babies and she wanted that normalcy to fit in with them.  Something she says was, “..a selfish mindset on my part, and I thought this would be such a burden.” Since his arrival, Casey realized how wrong she was, saying, “You will not feel this sadness once you have the opportunity to meet your child.”

“Owen is the best gift I’ve ever been given”

Understanding the amazing impact Owen has had on her life, Casey said she wants to be able to share how capable people with limb differences are.  “I felt like it was really difficult for me to find people to connect with or even find people with limb differences to the extent that Owen was going to be born with ..so I really feel like that is something that I’d want to share.”

10 months later, Casey looks back and wishes she would have known how great it was going to be.  She felt like it would have helped her be in a better place for the second half of her pregnancy.  She said, “I wouldn’t change it for anything. Owen is the best gift I’ve ever been given.”

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Journey from fear to love

An unexpected punch to the gut

Hoping to find out she was expecting another girl at her 18-week ultrasound, Miggy excitedly went to her appointment.  She was there with her husband and her three-year-old daughter. When the ultrasound tech started acting weird, they knew something was wrong.  

Miggy recalled, “..the doctor came in, and we asked, ‘Is everything okay?’ He said, ‘No, no..while her head, heart, spine and lungs look fine, all of her limbs are misshapen, deformed or in some cases, missing bones all together.’  That was like a punch to the gut.” Her doctor continued to talk, saying possible diagnoses, but Miggy felt like his words were water in her head and she was sputtering unable to catch her breath.  

Left with a series of unknowns

Their doctors advised them to see a specialist ASAP.  “The biggest thing was that it was such an unknown. Is this condition compatible with life?  Is it not? Is she going to live? Is this fatal? There was just a huge unknown for what it meant.” said Miggy.  

The first thing Miggy and her husband did was cry.  She said that they mourned very hard for the first 24 hours.  After calling some family and friends, they had some friends from their local church come over.  Miggy said, “They came and gave us a blessing, and we talked with them, and we just prayed. I will say that we felt a lot of peace right away.”  

Specialists are left not knowing

The following week they went to the children’s hospital.  Miggy called the appointments with the specialists “sobering events.”  She explained that while these five men have several decades of experience between them, none of them had seen a case like hers.  

Miggy was handed a paper that had their ‘best-guess’ diagnosis on it.  After looking it over for a few minutes, she handed it back and said, “That’s not her,”  Deep down she knew that wasn’t the diagnosis for Lamp. They continued on with the pregnancy, seeing the doctor every week for monitoring.

Finding out her actual diagnosis

Up until she was born, there were many unknowns surrounding Lamp’s limb differences.  They expected there to be several complex issues related to her limb difference. To their surprise, she had no other medical complications.  As soon as Miggy saw Lamp she said, “She’s perfect.” Miggy and her husband both knew that she was theirs, they just loved her.  

Lamp was diagnosed with microgastria limb reduction.  Miggy explained, “She has a wheelchair..she is missing most of her left arm.  Her right arm is also much shorter; it stops where a typical elbow would stop.  She doesn’t have fully formed hands. She has a hand that has three fingers all fused together.  Her legs are shorter and are different lengths.”

Using a blog to share positivity about disabilities

Miggy has a blog called, thislittlemiggy.com where she documents the joys of having a daughter with a disability.  She shared some of the joys by saying, “The joy is that you love her as much as you do the rest of your kids..she is such a naturally happy and joyful kid, and she always has been..she is funny and bright..she is a joy to raise on every level.”

Now looking back, Miggy says she is grateful for their terrible grim ultrasound where they first found out about Lamp. She said she was happy she received the information up front and was able to prepare for it.  However, she said that even though it showed what her disability would be “it was so inadequate in telling us the picture of who she is.”

On her blog, Miggy also interviews people with disabilities and parents of children with disabilities.  Something she attributes to Lamp saying, “My eyes have been completely opened to this whole new world of what it’s like to live in a body that is disabilities.  I see it from a whole new perspective.”

Learning to adapt 

Lamp has been able to thrive with her limb differences.  Miggy shared, “She writes with her feet, and she can feed herself with her feet.  Her feet are her hands.” In fact Lamp is so good at writing with her feet, her school can no longer justify offering occupational therapy anymore. She writes at the same level as her peers.   

Proving that she is differently abled and isn’t going to let anything stop her.  Miggy said, “I really do see through her what humans are capable of, and I feel like I see ability and possibility whereas before, I really did just see disability.”

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