Things get a bit hairy

Here are a few pictures from Nolans first 2 1/2 months, before we ended up back in the hospital

Other than waiting 12+ hours longer than we had expected for him to make his arrival, we had a pretty uneventful stay in the hospital and were discharged the very next day. Of course, I am leaving out the fact that days 2-4 of his life were filled with almost constant crying on his end until my milk miraculously came in somewhere between day 4 and 5 giving us a few moments of peace and quiet.

Really though, we were on cloud 9. We were spending our days cuddling with the most perfect beautiful baby ever, and he just happened to be ours; and other than some slow weight gain in the beginning, which is pretty common among breastfeeding infants, we had no reason to fear ending up back in the hospital.

Nolan started spitting up an excessive amount right before his 2 months checkup. While I understand “all babies spit up” I knew this wasn’t normal. Picture exorcism style spit up, spraying (and soaking) the chair, yourself, the crib, whatever happened to be in his path. I'm talking soaked, head to toe, and having to completely change clothes, undergarments included. We ended up getting some reflux medicine from Nolan's pediatrician, with hopes that this would be the answer to our problems.

On the morning of September 5, I woke up around 5am and saw that Nolan had slept through the night. After freaking out and confirming that he was, in fact, still breathing; I started to smile, we really do have a perfect baby. I crawl out of bed, planning on feeding Nolan and trying to get a couple more hours of sleep before we start our day.

This is when I realize something isn’t quite right. When changing Nolan’s diaper I notice that it is dry, as in he had not gone to the bathroom ALL NIGHT LONG. Maybe our perfect baby is already potty trained? I also noticed there was some sediment in his diaper. The closest thing I can describe it as is little grains of sand. In my nursing opinion, I assume it is uric acid crystals, also known as “brick dust”, feel free to Google it.

At this point, I am worried, not out of my mind worried, because I always assume nothing is actually wrong, but still worried. Nolan struggles with nursing, he just wasn’t really interested, keep in mind he just went 8 hours without eating and should be ravenously hungry.

The next couple of hours are pretty uneventful. Joe wakes up, we decide it’s no big deal and I will call the doctor when they open. Joe leaves for practice, and I just cant shake this feeling that something is wrong. I decide to get ready and head to Fort Worth so I will be there when the doctor’s office opens, stopping by practice on our way to assure Joe everything is okay.

 After several phone calls to Joe, my parents, the nurse at the doctors office (which only resulted in me becoming extremely angry at her for asking if my 2 month old son had played outside and could have put sand in his diaper, and advised me to watch him for the day and call back the next day), Nolan and I headed straight to Cook Children’s Hospital.

Nolan’s lab work was completely out of whack when we got to the hospital. His blood sugar was 48 (normal is 60-100), white blood cells were 4x what is normal (which is huge for anyone, especially an infant), liver enzymes were extremely high, clotting factors were off, ammonia was high. We were pretty lucky that we ignored the nurse’s advice and decided to go straight to the hospital.

I wont go into too much detail about our hospital stay, but here is the just of it. We had several pediatric specialists looking after our little boy, including a hospitalist (Nolan’s general doctor), an infectious disease doctor, gastroenterologist (GI), endocrinologist, and a metabolic geneticist. Since being in the hospital we have had follow up appointments with the last three, and have also seen an eye doctor.

Let me start by saying, Cook Children’s truly does have the best doctors you can ask for, we were thoroughly impressed with the level of care Nolan received and with the amount of time each doctor spent with us each morning explaining the plan for the day. We knew each and every day that our team of doctors were working on finding an answer and getting Nolan well enough to go home.

Throughout the whole stay we were continuously told that Nolan was quite the “puzzle”.  The doctors were really working as a team, we had several doctors in each area all working together trying to figure out what was going on. Nolan fit the description of several different illnesses, but for each one he was missing a key element ruling it out. Each doctor had their own theory and one by one Nolan would prove them wrong, all except for our metabolic geneticist, Dr. B.

Dr. B presented us with a disorder called Congenital Disorder of Glycosylation Type 1B, an extremely rare but totally treatable disorder. No parents want their child to be diagnosed with a genetic disorder, but if it had to happen this seemed harmless enough. In telling us about CDG 1B, Dr B briefly discussed another type of CDG, CDG 1A. CDG 1A was a much scarier option, but based on Nolan’s clinical presentation Dr. B was fairly certain this was not what Nolan had.

So, on September 14, after 10 emotionally and physically draining days in the hospital, we were finally sent home. Dr. B had her test sent off and we were expecting the results in the next couple of weeks.

            Dr B called us with lab results on September 18, Nolan has CDG Type 1A, a much scarier form of CDG. We were devastated, how do you process information like this? Our perfect and beautiful baby boy had inherited a genetic disorder that will effect his physical and neurological development as well as every organ in his body. Not to mention 20% of infants diagnosed with CDG 1A don’t make it to their 1^st birthday.

            It didn’t seem real, and sometimes it still doesn’t. We are still convinced we have the most precious perfect baby boy ever; however there is a grieving process we have to go through. Though we aren’t grieving the loss of our baby, we are grieving the loss of the life we thought we would have, the life we thought Nolan would have. Gone are most of the dreams we as parents have for our children. Even the smallest things like playing on a tee ball team to riding a back seem unrealistic. Now we are more concerned with his blood sugar levels, and achieving basic milestones such as being able to sit up, walk, and even speak.

 I will post a CDG mini lesson soon for those of you who have never heard of it. Until then, one of our sweet friends wrote a blog post about Nolan and CDG and you can find it here.
I wont lie, I am a little hesitant to tell you to go read her blog, after you read her blog my lack of writing skills will be even more obvious. Really though, if you are looking for a new blog to follow I strongly recommend her, I find my self lol'ing every time I read.

Here are a few pictures from the hospital. I hesitated to put the top right one in because he looks so bad, but I thought it showed how bad he was looking, these chunky cheeks of his are all due to swelling, as you can see in the bottom picture he was a skinny little boy. On our way home we had to stop and eat some BBQ with Papa.

We did have some fun while in the hospital, all of these were toward the end of our stay when Nolan was starting to feel better. Of course I had to throw one in of his sweet baby mullet.