We've been to ultrasounds, MRI's, fetal echo cardiograms, and meetings that followed with all kinds of doctors and specialists (high risk OBGYN's, pediatric neurologist, pediatric cardiologist, pediatric nephrologist, the palliative care NICU doctor, genetic specialists, etc.)
Basically our fetal MRI appointment was like opening Pandora's box. There was just so much more that could be seen in an MRI compared to an ultrasound. Somehow her development was always normal enough and didn't raise any red flags until now, but the list of issues seems unending.
Here's a synopsis of what we've learned about our daughter's condition over the past month:
Our daughter has some type of genetic abnormality. It could be an extra or missing chromosome of some sort, or it could possibly be recessive gene hiding out in both myself and Wesley. The doctors and geneticists think whatever it is, it is very rare, It's not something that can currently be picked up on routine genetic prenatal screenings. The only way to know for sure is to do a placental biopsy, which is some what risky for both myself and the baby, and results take about a month. It was also very expensive. Since this was only discovered at 33 weeks, we passed on the test, thinking delivery would probably occur before test results even came back.
Instead, doctors will test her DNA after delivery. But here's what we do know, regardless of what caused it:
Her Kidneys
- Her kidneys are very very small.
- At least one kidney is full of cysts.
- During pregnancy, the kidneys are not responsible for waste removal, like after birth. They are only for the production of amniotic fluid. My fluid levels are extremely low. This was one of the first symptoms something wasn't right.
- Overall, they don't think her kidneys are working. Or at least not working well.
- She would require dialysis for her lifetime.
- A kidney transplant would never be an option for her because of her brain condition, below.
Her Lungs
- This will be her first battle at delivery. Her lungs are about 45% the size of a normal newborn's lungs.
- Doctors aren't sure if her brain isn't telling her to practice breathing (aka swallowing amniotic fluid) and this is why her lungs are small, or if low fluid levels are just hindering her lung development.
- For now, she gets all her oxygen from me, but at birth when she has to breathe on her own, she will most likely not transition well.
- Most likely she will struggle to breathe at birth.
- She will probably be blue.
- We need to be prepared that despite all possible medical interventions, she may still not be able to ever breathe on her own.
Her Colon
- Her colon is developed, but not connected to the outside of her body.
- A colostomy is an optional surgery that would basically put a bag on the outside of her body so that waste could be removed. This is a tough surgery for an otherwise healthy newborn. Much less a baby with complications.
- Without surgery we will not be allowed to feed her or give her any oral medications.
- She can only receive fluids and IV medications to make her comfortable.
- Doctors are not sure she would be strong enough to survive surgery.
Her Brain
- This is the worst part. The part that is ultimately incurable and there's basically nothing that modern medicine can do to change.
- The ultrasound we had before didn't show nearly as much detail as the MRI.
- Parts of her brain, especially the back of her brain (the ventricles and cerebellum), are not completely developed. This is the part of the brain that controls language and motor skills.
- The outside of her brain (the cortex) is too wavy. This would most likely mean she would be plagued by seizures. Seizures in this part of the brain are hard to control, even with all current medications.
- Her brain is also asymmetrical.
- As far as what this would mean for her quality life, doctors are much more vague. Obviously, we would know more after she arrived, but for now they believe she would be severely mentally disabled. We've asked for more clarity on what that would mean and here's the most doctors will tell us:
- She would most likely always be non-verbal. With maybe no words, or very few words.
- Most likely she would never walk and have very stiff muscle tone.
- Cognitively, she would not have the ability to learn.
- There is really no hope she could ever live any normal or independent type of life.
A panel of pediatric specialty doctors meet every Thursday to review patient files and make recommendations to parents as a team. Before this meeting they told us her condition is "ultimately fatal" and "incurable". But she is on the boarder between a baby who will be very sick and live for 1-2 years, or a baby who is offered only comfort, or hospice, care.
Today, the panel recommendation came back suggesting hospice care, but ultimately the decision is up to us as her parents on how much, or if, we want to intervene.
No comments:
Post a Comment