First, let me start by saying how much each of mean to me. Your continued support has, at this point, lasted a bit over a year. Some of you are family. Some of you are personal friends who I’ve known for years. Some of you are “virtual” friends. Some of you are followers who love Everly.
Second, let me also tell you that, though I did not think things could get any harder, they did.
Third, I've thought long and hard about this message I'm sending you and have had it in the queue awaiting publishing since the weekend. I've also spoken with my husband, he has read this and he is fine with this going out.
I have shared all parts of this journey with you and this is an important part. A big part.
I need to make a quick timeline to help refresh your memory of this last year to better understand the latest news.
August 2013. Had Maternity 21 screening which looks for Trisomy 13, 18, and 21. Less than 1 percent risk out of 10,000. No concerns.
October 2013. Atour 20 week ultrasound, choroid plexus cysts were found on her brain. Referred to high risk clinic.
October 2013. High risk OB sees hole in her heart and tells us that she suspects something called Trisomy 18 which we had never heard of before. She tells us that it is a fatal genetic condition. I refuse an amino to confirm the suspicion. They refer us to a fetal cardiologist.
November 2013. At fetal cardiologist's office, he isunable to see any problems or concerns with Everly’s heart or development. He gives the all clear but asks us to come back in a month. We rejoice and celebrate this incredible miracle! Dismisses the suspicion of Trisomy 18.
December 2013 Return visit to fetal cardio’s office and this time he finds a large hole in her heart (VSD). Suspects Double Outlet Right Ventricle. We are shocked but thankful this is repairable and not fatal. Still no additional concern of any genetic anomalies.
January 2014 Return visit to fetal cardio’s office and this time he tells us that he also suspects coarctation of the aorta in addition to the other congenital heart defects. Weare crushed but still again feeling glad that it is repairable and not fatal. Still no concern of any genetic anomalies.
October 2013 – February 2014 Continue to also be seen by OB doctors twice weekly, one visit for biophysical (ultrasound) and one for non-stress test. No mention or concern still at this point of genetic anomalies, even though my mom and I had done research and knew to ask about clenched hands as markers.
At birth, there was suspicion of some chromosomal abnormality and a FISH test was ordered. Results came back on 2/25 that she was Full Trisomy 18.
Fast forward to October 6, 2014. We went in to the geneticist for the first time since birth so we could help them to see the “other” side of Trisomy18. While there, we found out that her original test at birth stated that she was borderline Full Trisomy. Basically what that means is that she was close to being considered Mosaic Trisomy 18, which has a much longer and better-fairing prognosis. Mosaicism occurs when the extra 18th chromosome is only found on some cells inthe body, not in all like in Full Trisomy. Many children with Mosaicism can walk, sit up, feed themselves, eat bymouth and SO much more. But the biggest thing is their life expectancy is much, much longer and can be into the 30’sand 40’s. In addition, the medical community typically offers those children surgical interventions like heart repairs which drastically improves their quality of life as well as their lifespan.
In hearing her borderline status, which was news to us, we requested her to be retested and so she was. I didn’t think too much about it honestly because at birth they said it was close enough to be considered full (though they hadn’t told us this information). About two weeks later, I received a phone call from the counselor that stated Everly’s test came back that she was indeed MOSAIC Trisomy 18!!!! I was in shock and utterly speechless. We decided to schedule an appointment with the geneticist to get more details and more about what this diagnosis this means from a genetics standpoint before sharing with everyone. In the meantime, I was on cloud nine knowing how this would change her life and ours drastically! I would not lose my daughter so soon, she could live life with us. I felt the blessing of God and that He had answered our prayers from so long ago. Though she wouldn’t be whole, she would be here for a much longer time! What a cause to celebrate!
In the meantime, we decided right away that we needed to get her G tube surgery with this new info. So we met with GI who then ordered the Upper GI which found her malrotation of the stomach. We also told our cardio at our appointment last Monday (November 3) and she was completely caught off guard by the new diagnosis. She then said she would need to think about it but given the new prognosis, heart repair or banding could possibly be a consideration!!! I was jubilant!
Her first smile at about 33 weeks.
That follow up appointment with the geneticist was also last Monday (November3) in the afternoon. My intent for going was to try to get some information about Mosaicism. However, my husband had a doubt about the validity of this new test because Everly had mouthcare (breastmilk) about two hours before. The test was a cheek swab. He was concerned the test picked up some of my DNA instead tainting the test. So, he requested that this test be redone. They redid the test then—she had mouthcare again with breastmilk about 5 hours prior this time as I was not anticipating having her retested. Results were due in on Friday, November 7.
As you can surmise, I was devasted, distraught being a better word, at the thought of retesting. However, I had faith that God would show up in this new test as well. I knew my husband, coming from an atheist viewpoint, could not just believe that the result was what God had wanted. He needed to question it. I also knew that that I was to honor my husband and this included going through with the retesting.
Baby Everly at 20 weeks. Love this one.
Last week was almost unbearable. I finally had a breakdown last Tuesday. It all came crashing down at once and it was just too much. The days couldn’t pass quick enough. My heart was racing, my prayers more determined. On top of the waiting, his sister and his brother-in-law came into town on Thursday so I needed to put on a happy face. Though I was looking forward to their visit, I just was having a hard time coping with it all. The year seemed to come to ahead this exact week.Then Friday morning came.
I knew when the caller-ID said “Caller Blocked” who itwas. I also knew the minute she spokethe first word what the news would be. I can’t quite remember what she said but I do recall hearing “this rollercoaster” and “Full Trisomy” somewhere in the call. It was like February 25 all over again. The same darkness reappeared. The same abyss. I couldn’t speak. And I couldn’t understand it in my human, earthly existence. Why, God? It didn’t make any sense to me at all. Jimmy was beside me and I had the phone on speaker and I just handed him the receiver and walked away. My baby, who just got a second lease on life, would not be with me like promised just four short weeks ago.
I just did not understand.
This “roller coaster” the counselor spoke of was a ride that I didn’t seem to be able to stop, let alone get off of at all. It’s like the cruelest of jokes. From way back last year with our first Maternity 21 test all the way to that moment.
It was all a cruel joke.
I had to make the call on Monday to tell the surgeon with whom we had met the Thursday prior (remember that scare? Yes, that was the very same week as all ofthis!) of the new results. I received a phone call message later that day from him stating that “given the new Full Trisomy diagnosis the benefits of repairing her malrotated intestines would not outweigh the risks of surgery seeing that the prognosis in Trisomy 18 children is that they live less than 2 years.” **Please know that I still think he is a great surgeon from all I have heard and I honestly believe that this sentiment is not exclusive to him alone. Many use what they've been taught, statistics, neonatologist and geneticist recommendations, etc.**
Another cruel joke.
My daughter was offered this same repair not days before…what was so different about her now? She still has malrotation of her intestines and complications of which could turn into an emergency at some point just as cautioned us at the appointment.
Forget about repairing it and heart repair…ha!
Now, of course, I'm not going to just leave these issues like this and I have messages waiting to be returned and doctors to now visit, but I want you to know what it is like to have a child considered "not worthy" (my words, yes) of an operation, a repair, an intervention that would be offered to ANY other child without Trisomy 18. I now have to fight.
I’m defeated. I’m not going to lie.
I pray this feeling is temporary and that I will just pick myself right back up, dust myself off and get moving. I’m really starting to get Job and how he must have felt to some small extent. Setback after setback and still you must move. In the face of severe adversity,you must seek God because without Him, there is no hope.
I know all of this in my head, but my heart is in about a million pieces again.
Like I said, I will pick myself up but right now…
I. Am. Just. Here.
It all boils down to the fact that I will still praise Him while this storm rages. I know the blessings that He has provided and that He will continue to provide. I know that I will continue to ask for healing in her body and that I would ask for intercessory prayer for her. I have my arms around my little miracle whoI’ve been immeasurably blessed to hold for going on 9 months. I can’t discount the hugeness of this fact alone. We are SO blessed that she is still with us this many months later. I have two boys who believe in the power of our God and who in the face of what our family endures daily still hold Him in reverence. Our family has an amazing support system surrounding us that has kept us fed, uplifted and overall just wrapped in love. For that, we are blessed beyond measure.
I know in my broken and hurting heart that we will overcome this hurdle (though that word seems so insignificant in light of theenormity of this situation) but it’s going to take some time. This year has taken its toll and this pastweek was most certainly a pivotal point for me.
Your prayers, messages, texts, calls and emails are so treasured by me and I thank you for those over the past year.
This whole “prolonged grief” combined with the incredible joy of being Everly’s mom mixed together is an emotional and sometimes difficult journey.
I know it’s been hard with lots of twists and turns.
I know that it still continues.
I thank you for going alongside us.
With much love and appreciation,
Crystal
