We discussed all of the possible options with the doctor, tried to understand as much as possible as far as the realistic outcome for this little baby. We explained that we had 2 other daughters at home that were expecting a baby sister.. and he agreed to support us in any decision we made for her but also said that the first step would be if she actually made it to the full term 40 week mark. We agreed and began planning; met with the Neonaologist that would be present for the delivery for a very realistic approach to how things would likely happen. We were told that since her lungs were so small, as soon as the cord was clamped, she would attempt to take that first breath, and essentially wouldn’t be able to because of the size of her lungs–at which point she would quickly slip into a coma from lack of oxygen and we would be able to hold her and love her until she was gone.
Through discussion with the physicians both OB and Neonatology, we decided to proceed with a C-Section at 38 weeks to give this little one the best chance possible. When she came out, if the Neonatologist saw any sign of respiratory effort, he was going to work with her but also respect our wishes to not pursue things like a ventilator which could have caused more damage than anything to her tiny little body. The big day came, I think we all held our breath when the doctor said “one last tug and she’ll be here”………..and then the sweetest little cry I have ever heard, and another, and another. Then they brought me this precious baby girl who was proving them all wrong!
Carsyn spent 87 days in the NICU in New Orleans–we drove about an hour each way every day to see her around working and trying to maintain our other kids’ regular schedules. There were lots of up and downs, so much learning, and each day was a new beginning because technically according to the doctors, she shouldn’t have made it through the day before. In the first few days after she was born, a Genetecist examined her and based on clinical appearance, diagnosed her Pina Shokier Syndrome which is a fatal genetic disorder, in which most babies do not survive birth or much past 5 months of age. He wanted to complete the genetic testing but warned us that the results would take 12-14 weeks and that she likely would not be around at that point. We told him the plan was one day at a time, we actually did the full Exome sequencing, and of course Carsyn was still here to see the results come back as “normal”–nothing to indicate any of the issues she was actually born with.
From head to toe, it seems that the last little piece of every body system, the last finishing touches on every aspect of the development process just stopped. Carsyn was born with a PFO in her heart that resolved on its own; she still currently has a moderate ASD and small VSD, Pulmonary Hypertension, and occassional pulmonary edema–and of course her Pulmonary Hypoplasia which requires her to be on oxygen 24 hours a day since birth. They did not want to risk aspiration, so she initally had an NG tube for feedings because she does also have a submucosal cleft palate and structural abnormalities throughout the sinus/Orapharengeal system. Around 1 month old, Carsyn was continuing to progress and the doctors’ tone changed from trying to get her home with hospice, to trying to get her home to continue thriving. That’s when they did a routine eye exam and found her Colabomas and an optic nerve pit–all of a sudden we had a new diagnosis of CHARGE Syndrome. But this was a good thing because they now thought she had more of a positive chance of surviving than the previous diagnosis!
We continued working to get Carsyn’s oxygen requirements to a level that could be managed at home, they decided to put in a G-button for permanent feeding access, and we got to bring her home just before she turned 3 months old. Since then we have had numerous other findings. Of course the Exome Sequencing came back normal August of that year and we did the CHD7 testing specific to CHARGE Syndrome which came back normal shortly after that as well. Since then, we have moved to Texas to pursue more options for medical care and have been very glad we have done so. Because of the submucosal cleft palate, there was always fluid in her ears and we hoped this was the cause of her hearing impairment, and we had tubes placed in December, along with an ABR. In October, Carsyn began experiencing Infantile Spasms, a form of seizures that was later diagnosed in January. Her MRI is abnormal with the Corpus Collasum not forming completely, her EEG continues to be abnormal although we have seen an improvement in the seizures with the current medication she is on. Developmentally she is very delayed–she has overall poor muscle tone, is still unable to hold her head up, although she can move her arms and legs pretty well, she is overall very limited. We are unsure of the extent of vision loss, but she is considered legally blind. She is considered deaf as well, currently doing a hearing aide trial and hoping to get insurance approval for a cochlear implant. It is very difficult to communicate and interact with Carsyn because of the vision and hearing deficits, which makes it very hard some times, especially for our other daughters. The ENT has ruled out CHARGE Syndrome clinically in addition to the negative genetic testing, so we are back to being undiagnosed. Her kidneys were previously termed “small” but they have always functioned well enough, so there is still no explanation for the initial Oligohydramnios that may have lead to some of these other growth delays.
Our daily routine has changed dramatically but I have no idea what we would do without her. Our lives, and everyone that she comes in contact with, are forever changed because of this little one. We are still working the system to try and get further assistance to support our private health insurance because we know the expenses will only increase as time goes on. My husband and I both still work full time, and we still manage to maintain our kids previous schedules and after school activites around Carsyn’s daily routine which includes medications, tube feedings, therapy appointments, doctor visits, and hospital stays (although those are very minimal thank goodness!).
We tend to get caught up in the daily chaos and although it is extremely draining, at the end of the day when we put Carsyn in her crib with the lights off, and her mobile lights up, the faint hint of a smile on her face reminds us that this is what family and life are all about.