Apologies for the delay! The majority of this was written the day after Father's Day but life can get pretty busy. Thank you for reading.
Dear Annie,
Since yesterday was Father's Day, I thought it would be most appropriate to share this post. It has been awhile since I have had the opportunity to write on the blog to address my sweet little girl. Annie, a lot has happened since the last time we wrote on the blog. Of the many things that have happened since March, there was one in particular that we wanted to share with you.
At the beginning this year (2015), we were asked by Tara (Genetic Counselor) to come to meet with her and Dr Swoboda at Primary Children's Hospital on February 17. That date has quite a bit of meaning for your mom and I. That was the day we were sealed in the Temple for Time and All Eternity, so we knew something special had to happen that day. From the day we received the call about the appointment and until the day of the appointment came your mom and I thought of a million possibilities of what this appointment would be about:
- Are they going to tell us that they were able to confirm one of the many disorders they thought it could have been?
- Will they tell us that they found nothing at all and your illness Annie, still remains a mystery?
- Are they going to give us more insight about our ability to bare more children? And how that would be done?
- OR will they strongly suggest we look for other avenues to have children through adoption?
All of the options were cycling through my mind and heart in the weeks, days, hours, minutes leading up to this very important update. It wasn't until I was in the hospital waiting room that a strong impression came over me that made me think, "no matter what the outcome of this appointment, I have everything I need to be happy. I have a wonderful wife who loves and cherishes me, despite some of the things I do, AND I have you Annie, a Perfected Princess in Heaven, patiently waiting for the return of her slow parents..."
We began to simplify our prayers. Rather than asking for "the specific answer" we longed for we solely asked for "an answer." We felt great peace and comfort knowing that whatever result was given, it was the result that was meant for your mom and me. With that feeling in my heart, we were called into a room to speak with Tara and Dr Swoboda.
Tara began to speak, by letting us know that they had received the results back from our Exome Sequencing Test (genetics mapping) that used the blood of you Annie, and the blood of your mom and I to map our genetics to determine how your illness came about. At your birth, the Dr's believed the genetic mutation (denovo) was complete randomness. While you were in the hospital, other Dr's believed that the genetic mutation was actually caused by a gene that both your mother and I carry (autosomal recessive). The purpose of the Exome Sequencing test was to either confirm which of the two scenarios it was. This answer was the difference between being able to safely have a natural birth, or run the risk of another scary situation again, OR take on a financial burden of genetics invitro and/or adoption. Independent of the results, your mom and I committed that we would find a way to bring the rest of your younger brothers and sisters to this earth. With that said, the way in which we will have children will be one of the following: a natural birth, genetic invitro, and/or adoption.
Annie, through out your short life I found you teaching me principles without to saying a single word. If it would have been up to the choice of your mother and I, you would still be by my side, but we quickly realized your life on this earth was not our decision to make, but instead, it was our decision to accept.
After a few minutes of small talk, Dr, Swoboda and Tara began to talk about the actual diagnoses, CLIFAHDD. For those that want to research in more depth here is a
link to the literature that was recently published just before our meeting with the geneticists. In detail, Tara and Dr Swoboda began to explain that the the mutation that took place was NOT what they had thought and they confirmed that the autosomal recessive gene that they had believed to cause your illness was actually ruled completely out. They confirmed with us that the mutation was a denovo mutation, which meant that your illness was even more rare than we had expected and the cause is till unknown. What we do know is that your illness is one of fifteen cases ever recorded and your case was one of the most severe; which goes to show how special you really are! With the mutation being a denovo mutation (completely random) your mom and I had to ask about the future of having future children naturally. With a smile on Dr. Swoboda's face, she confirmed that your mom and I could have children naturally with a 1% risk of a repeat case, rather than the 25% chance of a repeat. We had been given the answer that we had always hoped for, though we were willing to accept whatever answer was given.
The geneticist asked if we'd be willing to share your medical story with others and we absolutely agreed. We also volunteered to be a resource for other families that have children with similar disabilities. We honestly have learned so much from you Annie Girl and we do not want to hide that from the rest of the world.
Your mom and I are forever grateful for a loving Heavenly Father that knows us perfectly. We are grateful to Him for the many blessings he gives us every single day. We continue to thank Him for the opportunity we have to bear children and to bring more of your brothers and sisters to this earth.
I haven't told anyone this... Sometimes your mom wonders why I enjoy cycling so much. Well the truth is, I never feel closer to you then when I am out enjoying God's creations and I can feel your presence riding closely beside me. That is my opportunity to spend some true daddy-daughter time.
I want you to know from the bottom of my heart that I will NEVER forget you. You will forever have a place in my heart. You will forever be a light for your siblings to look to when traveling through difficult times. Your mission, though short, is complete. You have accomplished the ultimate goal which is to occupy your mansion in heaven.
Until our next ride... Love you Annie Girl.
-Dad
