SLIDER

Meet Caroline



 

She is born

In early 2007, Caroline was born by emergency c-section. I was admitted into the hospital the night before due to decreased fetal movement and was induced, which was fine with me because she was 9 days overdue.

She did not tolerate labor well at all, so my OB decided to perform a c-section. I will never forget the first cries she made – there were three of them, so precious and so weak. 

I still didn’t think anything was wrong, until I realized that I kept waiting for people to be happy and no one seemed happy – everyone seemed serious – no smiles. After a few minutes, my doctor leaned over the curtain and told us that it looked like she may have some kind of syndrome.  I really couldn't understand what he meant, but I remember feeling a deep sinking feeling in my heart.

The neonatologist then came up to me and said that they were moving her into the NICU. They showed her to me briefly and then rushed her away. My husband and I decided that he would go with her, while they finished my surgery.

Based on her symptoms and physical appearance, the doctors initially gave my husband the diagnosis of Trisomy 18, a fatal chromosomal disorder. 

At 12 hours post-delivery, I finally got to be rolled into the NICU to see her for the first time. She was such a delicate, tiny little girl (born 5lbs., 13 oz., 18 inches long), with tons of red hair, just sleeping away, yet she worked so hard to breathe even with the ventilator in. I could not believe that this was my baby, so weak and full of leads and IVs and on a vent, and I could not believe that she would leave us so quickly. For the first 10 days of her life, we kept getting told that our sweet girl only had a short time with us before she passed way. We kept trying to have hope, but those first few days were extremely difficult for us – the feelings of despair were almost absolute.

Thankfully, we prayed for a miracle and it happened! Her genetic test results came back and showed that she did not have Trisomy 18.  Instead the results showed that parts of her 9th and 1st chromosome are missing. 

It was such a joyful moment. From that time on, we determined to try to stay positive about any troubles ahead and to be grateful for the opportunity to give her baths, sing to her, hold her, rock her to sleep, in other words, to raise Caroline. 

About Caroline's Chromosomal Disorder

 

Caroline's chromosomal disorder: 9p-, aka Alfi's Syndrome, with a 1q duplication


What is 9p-?:  9p- is an extremely rare anomaly, in which a very small piece off the top of one of the 9th chromosomes is missing.

Is it common?:  No.  One out of every 4.5 million people have a deletion of this part of their 9th chromosome.   

What do children with 9p- have to deal with?:  They're born with "a wide variety of physical and mental delays, and many have numerous surgeries for corrections of their cranial facial areas, heart, kidneys, palate, ears, etc., as well as years of therapies for physical and speech related issues." (9pminus.org)  The life expectancy is not known but many people live into their 30s and 40s.   

What does the 1q part mean?:  In addition to missing part of her 9th chromosome, Caroline's also has a 1q chromosomal duplication. 

Is 9p- + 1qdup as rare as 9p-alone?:  It's even more rare! It This combination has been medically documented only one other time - her cousin Oliver has the same combo but that's it. That means Caroline is one of two complete originals and will be full of surprises. 

The First Year

 

Life became a sweet and grueling trek after Caroline was born.  And her NICU stay of 7 weeks only got us over the starting line of that trek.

We felt like we were kidnapping little Caro after being discharged from the NICU! But, she was all ours, and we learned quickly that we were capable of caring for her. 

She came home with a:

G-tube with bolus feeds every 2.5 hours and continuous feeds at night
Need for O2 24/7
Weight of 7lbs 10oz (we didn't realize how tiny she was until looking at pictures of her later) 
Heap of meds
Plethora of doctors appointments - like 7-10 the first week we were home!

The next few months following are a blur of those dr appts, feedings, O2 saturation worries, weight checks, PT, OT and speech appts (speech helps with feeding).  Her pediatrician advised us to only take her out as little as possible because of the risks to her health (RSV being a primary concern, but her frail body and immune system made her susceptible to anything).

Thankfully, her first re-hospitalization of 5 days waited until October of that year.  She had what turned out to be a UTI.   But the hospital didn't test for that until about day 3.  Before that time, they were testing her for more complicated issues - a classic problem for kids like Caroline - medical professionals skip over the simple to assume it's something unusual with her.   As parents, we've learned one way to advocate for Caroline is to look for medical professionals who 1) methodically look at her as they would any other kid, and 2) sincerely listen to our observations because we know her best.

C went in for a heart surgery at the end of that month and, because of complications, had a tracheostomy done.  Click on the first several links of November 2007 to learn more about that significant part of her life and ours.
 

'Toddler' Years



At a little over a year old, Caroline had a surgery to correct her craniosynostosis, meaning the bones in her skull fused too early and needed to be reshaped.  

Surprisingly, that surgery went very well.  She remained stable throughout and recovered quickly. Her head looks wonderful, and, while it’s hard to measure scientifically, Bryce and I strongly believe that the surgery helped her significantly with her development.  More details here, here, and in the first 4 posts of May 2008.

During her 'toddler' years, we continued w/the doctor appointments, physical therapy, occupational therapy and speech therapy.  We worked a lot to try to get her to eat more by mouth.  Several wonderful people with Nevada Early Intervention Services gave Caro lots of help and support.  In August of 2008, we got to start having in-home nursing care for Caroline during the day, and after a few less-than-helpful nurses, we found an excellent nurse that has been a wonderful help to our whole family.  (Lots to say on this subject - feel free to email me if you have any specific questions about in-home nursing care.)

Many of our other fun and hard times are in the blog archive.  Here some highlights you might enjoy:





 Today 

 


Life is normal and stable for us lately - a blessing that we can't be thankful enough for but we try!  

Caroline continues to be a beautiful member of our family, who loves her toys, clapping, songs (w/the volume on high!), and school fun. 

She's currently in kindergarten and taught by a fabulous teacher from CCSD.  She also has a wonderful OT, PT, and Speech team.  Her progress is slow - she can't quite sit up on her own for more than a few minutes, but we have hope that she'll continue to improve. She is visually impaired and has moderate hearing loss in her left ear and severe hearing loss in her right ear.

Caro's a friendly, loving, and sometimes indifferent big sister to our newest addition, Ivy.  We love being a family of four, despite getting even less sleep. 

There's much more to tell you about this special girl - her friends and family, her schooling, her example.  Watching her will increase your faith in God.  I'm thrilled to get to share her story with you.
Princess Caroline as Cinderella -- Halloween 2012



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