ROAD TO THE DIAGNOSIS
Updated: Jan 15
Here's the blog post I wrote not long after we received a diagnosis for our sweet boy, Jack.
My heart is so full. I don't even know where to begin...
On October 5, 2016 my sweet boy turned 10 months old and was diagnosed with Congenital Disorder of Glycosylation, Type 2.
At about 7.5 to 8 months old we started noticing his eyes making clicking movements and crossing a little bit. I emailed our pediatrician and told him that we noticed these eye movements to see what he thought. He said it looks like he has Nystagmus, which is an eye condition where the eyes shake, usually it's horizontal and they shake quite a bit, his was vertical and just a little bit. He asked me if I noticed anything else about him. When he asked that I realized, oh he's not sitting yet, he's not rolling much, not saying Mama, Dada... Even brother who crawled at 14 months and walked at 20 was sitting at 8 months...
I knew then something was up, I just didn't know what. He said he thought we should go see a Neurologist to see if there was anything else going on.
We went to see Dr. Morita. She assessed Jackson, asked us questions, and said she wanted to start with an MRI.
On September 6th, 2016 we took Jackson to Primary Children's for his MRI. It was the beginning of this process and it was really hard. When we arrived at 5:30am it was dark and no one was there. Addison, Jackson's Dad, was questioning if I made the appointment at the right place. Soon a lady came around the corner and let us in!
Our appointment was at 5:30am and she said the doors don't open until 6:45am but you can come in. We waited. Finally got to go back and found out a nurse didn't show either. It was quite the morning. Jackson had to fast so waiting longer wasn't my favorite thing... He did so good though thankfully. He cried a little when they put the IV in but was over it pretty quickly.
They're so good at Primary's. Let you hold them and be right there with them. It truly is an amazing place. We walked back to the MRI room and I held him while she gave him the anesthesia. She warned me that some babies fight it and as soon as she said that he started to cry. He did not like it at all. I set him down on the bed because at home I lay him down with his binkie and blankie. (I know I hate people touching me when I'm tired so I wanted to see if that would help). I rubbed his head, talked to him, and kissed his cheek. He finally fell asleep. It was so heartbreaking. That baby never cries, so to see him upset was so sad. He did not like that at all. They wheeled him back to the big MRI machine and we walked out. I bawled. We went and got some breakfast while we waited.
When we got back they took us back to the recovery room. We helped wake him up, tried to feed him some apple juice which he did not like at all, so I made him a bottle and he downed that. He was so sleepy...
I sat by him all the way home and let him sleep.
We all took a nap when we got back to Gram and Papa's house. After his nap he was so much better. A lot more alert and seemed to be back to his normal happy self. That afternoon Dr. Morita called me and told me the results came back normal! We were so glad to hear that but then again left wondering what is going on?...
On September 13, 2016 we took Jackson to get an EEG. This would test brain activity to see if he was having any seizures. Some people can have seizures when they sleep which can cause development delays. I had to put him to bed 2 hours later and wake him up 2 hours earlier and not let him take a nap before his appointment. We had to drive to the hospital and of course he fell asleep on the way there. They have you do that so that they will sleep during the test. They like to see their brain activity awake, as they go to sleep, and asleep. This was done at the Outpatient Building at Primary Children's Hospital. Again an amazing place. Not to mention how cute it is. They make it so fun for the kids and this building has an amazing view of Salt Lake City.
They put all the little monitors on his head and wrapped him all up. We were dying, he was so cute! He looked like a little chubby mummy. This test was A LOT easier then the MRI. We were with him the entire time and nothing bugged him. He was an angel.
Doesn't he kill you? Cute little chubby mummy!
The technicians left and we waited for him to fall asleep. We let him relax a bit and then we put him on his tummy because that's how he loves to sleep and sure enough he fell asleep...
The technician came back after about 30 minutes and said we're all done. He had some really cool hair after that. Then we went down to the lab for some blood work.
While we were waiting on the results from the blood work we went to see the ophthalmologist, Dr. Young, at Primary Children's Hospital. Getting in to see her so quickly was a complete miracle! When I first called they said we were looking at December or January... (It was September) I thought my baby will be 1 by then! I called to see Dr. Young's schedule and they said they had an appointment the next Friday. Wow, yes please! I called back to see if there were any cancels and there was! Tuesday, we got an appointment for the following Tuesday.
On September 20, 2016 we took Jackson to see Dr. Young. She looked at his eyes and said everything looked great. He has a little bit nystagmus but nothing much. His eyes also crossed so she gave us a prescription for glasses hoping that it will help his eyes straighten out. We will go back in November. If they don't, we will do a little eye muscle surgery to fix that. (He did end up having that eye muscle surgery)
Everyone asks... how can they tell what prescription a baby needs for glasses?! She did it manually. They could for adults too but since we can talk ;) She took a lens and held it up to his eye. Then looked at the back of his eye and can tell what he needs. We went the next day and ordered him a pair of glasses.
Waiting for those killed me... I wanted my baby to see right away! Patience... Blah! ;)
Every doctor appointment they would all say what a different case this was and they weren't sure what was going on... The first few months of Jackson's life I just knew there was something special about him. There was something about him but I didn't know what it was. It all makes sense now...
We were told the blood work would take a couple weeks. Some would come back faster then others. I received a call and we made a follow-up appointment with Dr. Morita, the neurologist. The lady on the phone said that his thyroid was low and she would talk to me about it at the appointment. I wish she would have said we may have a result so Dr. Morita will talk to you more about it at the appointment. I knew this was a possibility but for some reason it's like I forgot and I wasn't expecting a diagnosis... (his thyroid is fine!)
On October 5, 2016 I took Lincoln and Jackson to Dr. Morita's office for the follow up visit. Dad was out of town on a work trip. Lincoln was so good. I told him that he was coming with me to take Jacky to the doctor and that he would need to be good and quiet. He was perfect. At one point the doctor left the room for a minute and he said, Mommy talking to doctor? I said, yes I am talking to the doctor. He said, okay! And continued playing. He's the sweetest, best big brother. Tender mercy number 2,349.
The first time I heard the words Disorder of Glycosylation, Type 2 I didn't really know what to think. It's a lot to take in when you receive a diagnosis for your precious baby. It's hard to have unknowns. It's hard to think about all that they will go through in this life.
But that's just it... It's just in this life. It's all earthly stuff. His spirit is perfect, his body isn't.
We got this baby boy!
It's almost been a week since we received his diagnosis and it's been life changing. I've seen tender mercy after tender mercy. My heart has been on fire, I've felt the spirit so strong. I know that Heavenly Father is so aware of me, Jackson, & our family. I know that Jacky was sent to us for a reason. I know that everything happens for a reason. I know He prepared me for this calling & it's a HUGE blessing. This would be a completely different experience if He hadn't. Tender mercy 2,350.
(Since we received this diagnosis we've worked with a genetics doctor to find the gene associated with CDG and they can't find it. So he's still undiagnosed. They think CDG, Congenital Disorder of Glycosylation, showed up on his blood work because he is a carrier. Right now Jackson has an undiagnosed genetic disorder.)
I worked with people with disabilities in college for about 7 years. I worked at a preschool for kids with Autism, a summer camp for people with disabilities (it was SO much fun!), I was a manager for a residential program, I took college courses, & it became my passion. I wanted to do Special Ed or be an advocate for people with disabilities. When I became a stay-at-home Mom when my oldest was born in 2014 it caused me to take a break.
Now I'm back!... I get to be an advocate for people with disabilities again... with my own son. That wasn't my plan at all. I loved working with them, I absolutely loved it. They made me so happy but I didn't want that for my own kids. You don't want your kids to have to go through so much...
It wasn't my plan, but I know it's His & it's way better then mine.
So here we go...
...And look at where we are now!
Thank you for reading!