The truth is, none of this makes sense. Avonlea is a complete mystery.
Between all 7 of our OBGYNs at our obstetrics practice, 3 perinatologists (from both Presbyterian and CMC), 1 neonatologist, 1 pediatric cardiologist, 1 trisomy researcher and 2 genetic counselors, we have been given a lot of information and a lot of opinions. The facts as we know them are: Avonlea has Trisomy 13, and Trisomy 13 is a terminal condition. She's going to die from Trisomy 13. Plain and simple…
All of these physicians and medical professionals have widely varying opinions on what the diagnosis actually means for Avonlea: her likelihood of surviving the birth process, how long she might live outside the womb, and what measures should and should not be taken to care for her (comfort-care only vs. full-intervention). Each medical professional we've seen gives us advice based on their previous experience with Trisomy 13 babies or based on their personal values and, of course, everyone's experience, opinions and advice are wildly different.
We leave each appointment more confused then when we walked in! We're positively overwhelmed with conflicting opinions and with how to grieve in the midst of it all.
I guess I should mention that our second-opinion amnio results came back positive for Trisomy 13. Surprise, surprise…
I don't remember how many cells were tested from our first amnio? I do remember that the genetic counselor with Presbyterian told us that every single cell that they tested during the kerotype showed the extra 13th chromosome, indicating "full" Trisomy 13 (a layman's term meaning that every cell in her body would have an extra 13th chromosome present). There is a version of Trisomy 13 called mosaicism, wherein an extra 13th chromosome is not present in every cell- the Trisomy is broken up throughout the body, integrated in with some cells that are healthy that do not present an extra chromosome. The prognosis for a Trisomy 13 baby with mosaicism is likely to result in the child living longer, potentially years with significant neurological disfunction. In Avonlea's case, however, the fact that every cell tested did show an extra chromosome, the doctors at Presbyterian do not believe her to have mosaicism.
When we got our results back from the second amnio, the genetic counselor with CMC told us that 19 out of the 20 cells tested presented the Trisomy 13. She explained that the one healthy cell could indicate mosaicism, but it could've also been a culturing issue during testing (the extra 13th chromosome fell off of the cell during testing), or it could've accidentally been one of my cells. We were given the option to have 10 more cells tested and we took it. All 10 cells came back positive for Trisomy 13… which does seem to indicate, in the lab's opinion, that the one healthy cell was either mine, or the result of a culturing issue.
This doesn't completely rule out mosaicism, but these results definitely indicate that mosaicism is most likely not present in Avonlea's case.
However, if Avonlea does have "full" Trisomy 13, she has one of the most "perplexing" cases the doctors and medical professionals have come across. She has no outward disfigurations that tend to be common in Trisomy 13 babies: her face is beautiful, no cleft-lip/ palette or fused eyes/ nostrils, and several of her ultrasounds have shown us that there are no missing or extra digits, no clubbed or clenched hands or feet, and that her femurs and ankles appear straight and proportional to the rest of her body. Her internal anomalies are all mild… Her brain did split into two hemispheres, whereas in most Trisomy 13 cases, the brain does not split. Her kidneys, although they appear "too bright" on the ultrasound, are functioning normally and her heart, although misshapen, has great function and blood-flow. Her growth appears to be on-track as well. Although she is on the smaller side (consistently in the 20th-30th percentile), she is not by any means "off the charts."
All of this could mean that she has a chance of making is longer than average after birth? But at the same time, the simple fact that she does have Trisomy 13 means that she could just as likely pass away in-utero before we even make it to term. There's no way to predict, no percentages, no answers…
And while we're waiting, we have a lot of truly heart-wrenching decisions to make…
We have to decide what levels of respiratory support we're comfortable with Avonlea being given should she survive birth. Trisomy babies often have much difficulty breathing on their own after birth because their brainstem is not developmentally mature enough to tell the lungs to breathe. Some respiratory support options are very invasive and do not guarantee that she'll ever be able to be taken off that support and breathe on her own. Others are less invasive but potentially useless depending on her condition.
We'll have to decide what measures will be taken as far as intervention goes if or when she starts not to do well… a lot of those decisions cannot be made until she's born and we have a chance to assess the situation after she's been examined by a geneticist and neonatologist. We're dreading some of those decisions, though… We already know that open-heart surgery is on the table as one of the decisions we'll have to make based on her ability to thrive during her first few hours/ days. If she survives birth, we truly can't imagine holding her, seeing our daughter... there in front of us, alive… being asked to make life-or-death decisions for her tiny little body. Trying to weigh the consequences of potentially selfish attempts to keep her alive against the agony it could cause her if she only has a short while to live.
We're also having to make other kinds of decisions no parent or parent-to-be should ever have to make. Funeral arrangements… No parent should ever have to do this for their child. Decide between burial and cremation, plan a memorial service. After all of those blood-curdling medical decisions we could have to make, the inevitable outcome of her diagnosis is that she is going to die. At some point. And we're going to have to attend her funeral...
That saying? You know, the one I mentioned before that I HATE? "God won't give you more than you can handle"
Well I still HATE it.
If God thinks that we are in any way capable of handling THIS… He is wrong. And my God is never wrong. THAT proves that this stupid saying is a bunch of bull. HE will help us through this. HE will carry us through all of these decisions. HE will give us wisdom and hold us up. And that is the ONLY way we could possibly make it through this.
But right now? We are weary… heavy-hearted… terrified… and confused.
Please pray for us:
…that the Lord would give us peace and joy over the next several weeks as we prepare for Avonlea's birth…
…that He would grant us wisdom to make the very best decisions for Avonlea if/ when the time comes after she's born…
…that God would preserve us financially and not allow this situation prove detrimental to our business or livelihood…
…that our marriage would continue to flourish during this trial and grow us closer together…
…that others' lives would be touched by Avonlea and that the Lord would use her in amazing ways, during whatever time she has left, to make His goodness and power known and to bring glory to His name…
And most of all:
…that God would work a huge, amazing, inexplicable MIRACLE and HEAL our daughter…
We love her so much. We feel like we know her so deeply already… we want her. We do not want this fate for her that the doctors have already written in stone. We desire life… long life… for her. The time we've spent trying to grieve, accept and process through her diagnosis have been torture… hell on earth. The incarnation of weeping and gnashing of teeth.
Please continue to stand with us, in faith, and pray with us for the desires of our heart listed above! We need the body of Christ more now than we ever have, more than we could've possibly imagined we ever would.
All our sickness, all our sorrows
Jesus carried up the hill
He has walked this path before us
He is walking with us still
Turning tragedy to triumph
Turning agony to praise
There is blessing in the battle
So take heart and stand amazed
When you cry to Him He hears
He will wipe away your tears
In the midst of suffering
He will help you sing