It's been so long since I've blogged that I can't quite figure out where to start but am feeling the need to blog. Since I've never really shared my blog with friends and know that only a handful of people read it occasionally, I haven't been very motivated to keep it up. At times like this though, it is so good for me to think in terms of blogs. It sort of helps me to organize my thoughts and feelings in a specific way that is good for me I think. So, if you are reading this I'm sorry for the long absence an I hope that you will forgive me if I jump back in and write from time to time.
In order to maintain some sense of linear thought in this blog I will assign this post to the task of a quick update on things that are not meant to be trivialized, but will be summarized for the purpose of this post.
I last blogged about infertility and the emotional journey that this caused. We did our first IUI in October and became pregnant! I guess this almost never happens and the doctor's were thrilled with the success. I could designate whole blogs on how we told our families, and how unbelievably pinch myself thrilled we were to finally be pregnant. Husband often called it the countdown. We wondered for years when we would finally become pregnant and all of a sudden with one phone call from the doctor the countdown had begun! July 19th we were due. It couldn't come soon enough but I decided not to wish the time away but to enjoy every little thing about pregnancy. I bought maternity clothes was earlier than necessary, lifted nothing heavier than 10 lbs, stopped drinking caffeine completely, and all of the things that you are supposed to do without thought of sacrifice. I would love to say that no one on earth was ever more thrilled to be pregnant than we were but I'm positive that many others feel the way that we did.
We had complications in the first week of finding out that we were pregnant, but after that it was smooth sailing. We found out fairly quickly - at about 12 weeks - that we were likely having a boy. At our 18 week doctor's appointment that was confirmed and we began to plan for our son in a more specific way. His name is Cole Elijah and I will conclude this post by attaching emails that I wrote to family and friends about him.
February 23rd:
Brian and I received devastating news Friday about our baby. Let me first say that I apologize for sending this out to you via email instead of in person but we are just not ready to have conversations about this at this point. We got a call on Thursday night from our doctor that some "serious concerns" were raised from our Anatomy Scan ultra sound that we had on Monday. They rushed us into a specialist on Friday and things are much worse than we originally feared. The baby has something called Skeletal Dysplasia which is 100% fatal and there is no question as to the diagnosis.
The most likely scenario is that the pregnancy will continue to full term as my body will keep him alive until then. Most likely he will be born and die shortly after birth, unable to breathe on his own. This is a very rare diagnosis and is not genetic or chromosomal. According to the specialist this just "happens." They call it a "sporadic" condition meaning it sort of happens at random. This is really all that we know at this point. We are being sent to Cedars Sinai hopefully this week to meet with a team of doctors (the best in the world) who specialize in Skeletal Dysplasia. This is not to confirm the diagnosis because that has already been confirmed (3 doctors have confirmed this.) There are several forms of this dysplasia and they hope to narrow it down so that we can tell more precisely what we are looking at so they know how to treat me and the baby as we prepare for his birth. Ultimately we will know if we are looking at minutes, hours, or weeks of life for him. Sadly we are praying for - and our likely best case scenario is that his life is short so that he does not suffer.
Please pray for us. We went from Monday where we learned he was a boy, and a very active little guy at that - to Friday where we learned that our dreams of raising our son were shattered. We don't know how to process this mentally, emotionally, spiritually, or even how to go on with life with this news. Please pray.
We wanted to email just a few close friends and family and feel badly for sharing such bad news. We aren't ready to inform everyone, and frankly we don't have the energy to do so, but we wanted to let those of you know that have been so close to us on our journey. We will keep you posted as we learn more. Brian's grandma died this weekend as well so there is much to be done in the week ahead and we will keep you informed as we have news to share.
Thank you for your support and prayers. If you live in town forgive us if we sort of hibernate for a while trying to wrap our brains and hearts around all of this.
March 6th:
Some of you have received various updates so forgive me if some of this information is redundant but we have received lots of questions about our visit to Cedars Sinai so I thought I would send a quick update.
Our visit to Cedars Sinai was very informative. We met with the only doctor in the Skeletal Dysplasia Research Center through Cedars Sinai who specializes in pre-natal diagnosis of SD. She was able to quickly tell that our son has something called "Cornelia de Lange." There are over 380 types of skeletal dysplasia disorders and we knew from the previous diagnosis with the team of perinatologists that we were not looking at Dwarfism or any of the other types of normal-abnormalities like many of you had mentioned in your emails to us. Dr. Krakow confirmed this very quickly (she was part of the research team that originally identified the gene that is "cornelia de lange" so she is intimately familiar with this particular dysplasia and knew right what to look for) and informed us that not only was our son missing arms, and his bones were too small keeping his organs from developing, but that his skull was VERY small and his brain was unable to develop. Even the mildest cases of Cornelia de Lange cause moderate to profound retardation and ours is not a mild form. In her words, if our son were to survive outside the womb - "a child with down syndrome would be a rocket scientist compared to him" in regards to cognitive abilities. She went on to say that if he survives birth he would never know who we are, have the ability to speak, or be cognitively aware of his surroundings. They can't say how long he will live - inside my womb or out. Our prayer is that the Lord will take him home and make him whole so that he never has to struggle outside the womb.
Friday we met again with a geneticist and the original perinatologist that gave us the diagnosis and both confirmed their original theory that this condition was "sporadic" meaning that any genetic mutation likely started with him and would only become "hereditary" if our son reproduced - which obviously he will not therefore it is genetic, and not hereditary. Basically what this means that at a very high end, worst case scenario, we would have a 1 ½% chance of this ever happening again. Essentially, they are saying that this happens at random and has nothing to do with Brian and I, and simply has to do with this baby not forming correctly. Although this is good news for future children, it doesn't change our current situation.
As far as how we are doing... it changes day by day. As much as we desperately want him to be with us as long as possible, we saw the photos in 4 D ultrasound at Cedars Sinai and it is horrifying to think that our precious son be held captive in a body that is already so malformed and so clearly not whole. I selfishly want him with me as long as I can and yet desperately long for him to be made whole, even if that means in heaven. I can't bear the thought of watching him suffer. I long to hold him in my arms while he is still alive so that I can pour all of my love into him even if just for a moment and at the same time I pray for God's mercy that he would never have to know life outside the womb and never have to struggle for breath or life. The hardest part for me to understand is why the Lord would choose to answer our prayer for a child only to take him away from us. I am mad about his room that will be left unfinished and my baby shower that was half planned, and my stroller, and crib and bedding that I had made such big plans for, and all of the other little things that I had picked out for him, and yet I don't care about any of that! I just want my son to be whole!!! I do take comfort in knowing that one way or the other the Lord will make him whole, either miraculously on earth, or by taking him to heaven. We are grieving, we are angry, and we don't understand, and we are telling the Lord all of that. I don't pretend to see His hand in all of this, but I know that He has never felt closer and I can feel Him walking this with us. We have been so blessed by all of the amazing people in our lives who have brought flowers, left text and voice mail messages, sent cards and emails, taken us out to dinner, prayed for us, and reminded us that we are not alone through all of this. Our arms are empty but our hearts are full.
We will keep you posted as we learn more. Right now what we know that our son is not meant for this world. We know that in any scenario outside of the Lord choosing to heal him, he will not be with us much longer. We are praying that God will mercifully take him home without suffering.
March 11th:
Many of you know that our son was given a fatal diagnosis just a few weeks ago. Sadly, this update is to let you know that our son Cole Elijah went home to be with the Lord. At a doctor's appointment on Monday we learned that he was no longer ours and we "had" him on Tuesday.
It goes without saying that these have been an excruciating couple of days for us, but we find such peace in knowing that he is now whole and will never have to struggle for life here on earth. We are also thrilled that Cedars Sinai is using his little body for research and hope to learn something about Cornelia de Lange that will help other families. We are also thankful that the Lord provided both of our families to be close to us during this time. My parents moved here just a few months ago - hoping to be close to their grandbaby, but what a blessing that they have been so close during this time. Brian's parents happened to be home from Fiji because of the death of his grandmother. It is such a blessing to be close to family during this time as we are all grieving together.
I am going to be off of work for several weeks and Brian and I hope to go away in a couple of weeks to spend time together after I recuperate a bit from his birth. We have made arrangements with a local mortuary to cremate him (after we get him back from Cedars Sinai) and hope to have a family service before Brian's parent's have to go back to Fiji.
Thank you for your prayers and your thoughtful concern over the last few weeks. Please continue to pray for us as we adjust to this new reality. We are so thankful that Cole has been made whole, but our hearts are broken. We feel empty - to no longer carry him in my womb, and not get to carry him in our arms is devastating. We are angry that the one thing we have begged God for He has denied us. We can't pretend to see His hand, but we are desperately clinging to Him because we know He is the only way through this kind of hurt and pain.
