Sleep studies, swallow studies & more

Wanted to update you all on some studies James had done before being discharged from Lurie Children's.

James had an initial sleep study done when we got to Lurie in August that showed some mixed sleep apnea that they attributed to his prematurity. Mixed meaning central apnea (unexplained short lapses in breathing, likely due to prematurity) and obstructive, possibly due to his smaller jaw, his feeding tube, positioning, etc. Nothing to worry about at the time, just wanted to give him until his due date to repeat to see if he matured and grew out of the apnea. The plan was to repeat the study just prior to discharge. So, we waited.

August 15, the day after arriving at Lurie, we tried breastfeeding and it didn't go well as far as his ability to swallow. He almost right away had a drop in his heart rate and oxygen saturation which was a sign that something was wrong. The speech therapist felt feeding him thin liquids, either breastfeeding or by bottle, weren't safe. James could be aspirating. We were switched to thickened formula which wasn't a huge deal at all since James has quite the suck. He was put on nectar thick formula which was regular formula with a little rice cereal added and continued to get breast milk via the NG feeding tube. We thought and were told that these issues were again possibly related to his prematurity and that he may grow out of it in addition to his new diagnosis of 22q11.2 deletion/Di George/22q (I'll just call it 22q to make it easier) which often causes swallowing issues in the kiddos. The plan was to do a swallow study to actually see what was going on and if he indeed was aspirating, but they wanted to wait to do this until he was term, or his due date, to give him the benefit of the doubt. So, nothing to do but wait for time to 'cure' his swallow or to determine if it was the 22q causing troubles.

Fast forward to September 11: James' due date and also my birthday. Already an emotional day as it was when James was 'supposed' to arrive and kind of brought everything into perspective (we had a baby two months ago who had not left the hospital and had yet to come home where he belonged). At this point I was back to working part time so had gone to work in the morning and had a pretty great day to start with - a very sweet patient of mine came to visit me and I got a phone call from a therapist who occasionally comes to help out to wish me a happy birthday. For not working together often, it was very thoughtful of her to remember my birthday. It's often those little things that make your day, right? Then things went sour.

I arrived at the hospital that afternoon and was told that James was going to have his swallow study done in 15 minutes. Everything seemed very rushed and I just wasn't mentally prepared for it to happen. I was also told that he had his sleep study the night before - wait what? It was supposed to be the next night. Why were they doing the sleep study and swallow study so closely together? It stressed me out so I can't imagine how it felt for little James. A night with tons of wires on his head being poked and prodded followed by a bumpy and bright trip to a different floor to be positioned and fed all kinds of different things. Sounds simple for an adult but for a little baby? It was a lot.

Needless to say, it didn't go well. In the world of rehab you aren't supposed to say fail but for lack of a better word, he failed the study miserably. We started with feeding him his nectar thick liquids and right away his heart rate dropped. He aspirated (or nearly - the speech therapists try to stop him from actually aspirating anything into his lungs, they catch it when it penetrates into the wrong tube and stop him before it gets worse). We moved on to syrup, a slightly thicker liquid. Again, he failed. We tried honey thick and by this point he had totally shut down and wouldn't even take the bottle in his mouth, a sign that his body had had enough. The speech therapist seemed stunned, I was shocked, upset, and angry. We didn't expect it to go this poorly. The only safe recommendation that she could offer was that we should not be giving him anything by bottle in order for us to go home. If we continued to try, he likely would continue to have drops in his heart rate which equated to five more days in the hospital each time it happened.

My heart broke for James. He loved nothing more (besides his momma and dad) than his bottle. To have to take it away from him was tough. I know, you're thinking he probably had no idea what was going on, but it was a special bonding time with him and you could just sense his pleasure when he got to drink out of the bottle. He still got his pacifier which is probably his third love in life and continues to be. That kid loves to suck!

About an hour after the swallow study we got a visit from the sleep medicine doctor for a discussion on results of the sleep study. Unfortunately nothing much had changed since his initial sleep study a month prior. This wasn't good news as they had anticipated things to change as he matured. He was still having central apnea that they couldn't explain and in addition he had some abnormal EEG results which prompted us to get involved with a neurologist for a formal EEG which again showed some more abnormal firing of brain waves in his right temporal lobe. What does this mean? We don't know. He felt it was not suggestive of epilepsy (seizures) which can be common in 22q. White brain matter necrosis/tissue death/damage was brought up but I don't understand what this will mean for James down the road besides more difficulties. We'll cross that bridge when we get to it. All we know is "it's common in preemies." Kind of the answer to all of our problems, and if that isn't the answer then "it's the 22q."

We were left with a recommendation that James be placed on a little oxygen overnight to help with the sleep apnea which then somehow turned into them saying he should wear it all the time. Such a bummer because he had been off all oxygen and support for a few weeks at this time. Isn't a huge deal for us besides having the tube to deal with, especially now that we're home and trying to move around and have pets who sometimes think this nice long tube is a toy.

All in all, September 11 was a pretty disappointing day. I cried to the staff and we begged them to move along and do what they could to fix what problems could be fixed so that we could get him home. We had had enough and it was time to get him out of there. On our way out to try to piece together what was left of the day for a birthday dinner, the nurse practitioner finally gave us a little hope when she said she would start him on oxygen right away and a new medicine for reflux to see if that would help him out. There was some question that reflux was related to the apnea. Thank god, I just wanted something to be done. I just felt like we kept getting news and nothing was actually being done about any of it.

To quickly follow up on where we're at now with all of this:

-We do a repeat sleep study in early December and until then James has to stay on 0.5 L oxygen and wear a pulse oxygen and heart rate monitor to alert us of any apnea. None that we've noticed to date since he's been home. 
-Since he came home on 9/21 we had not done any bottle feeding until he saw the speech therapist again on Mon, Oct 6. She felt that we could try 15 ml 3 times a day of syrup thick formula for practice.
-We had a repeat swallow study again on Weds, Oct 8. Again, did not go well. Similar if not the same results as last time meaning his swallowing issues are likely because of 22q, not prematurity.
-We are in the process of scheduling a g-tube (surgical placement of a feeding tube in his stomach) for a more semi-permanent solution to his feeding issues. The speech therapist feels that once he is able to eat solid foods and drink by cup his issues will resolve as this is often the case with other 22q kiddos. Fingers crossed!

Little did we know they found something else on his swallow study that would lead to a new diagnosis and more problems down the road... on to the next post... 

Di George Syndrome

It's taken me awhile to write this post because it's hard to know what to say. James was diagnosed with 22q11.2 deletion syndrome, a genetic disorder due to a partial chromosome deletion, commonly known as Di George syndrome. We got the diagnosis in Wausau and two days later we were transferred to Chicago. Insurance finally agreed to transfer him as all the specialists he has needed to see are in one place at Lurie Children's Hospital.

It's difficult to describe the syndrome because there's so much to it and it varies so much by child, so I won't try. I'll link to a couple of the better websites below.

To start with, his neonatologist suspected something may be up after getting news about his heart defect in combination with his 'small mouth' that we don't think is that small. He was difficult to intubate when he was born and now we're told he has a small jaw as well. Usually whenever there are a couple things a little off, the doctor will get genetics involved as it's their specialty and job to determine what's going on. I remember being upset and still am to hear that anything is 'off' or wrong with James. He is perfect in my mind and always will be. The geneticist that got involved in James' case was in Madison so photos were taken of James to be sent to him. This was a rough morning; the lights were turned on full blast in his room and he was held down in different positions to photograph his head, hands, feet, mouth, throat, everything in multiple positions. Stop examining and scrutinizing my baby like he's a specimen. It was hard to watch, especially because we felt that this was silly and there was nothing wrong. They were wasting their time.

Time went by and one day our nurse came into our room and said that the genetic results were back and that the doctor wanted to speak with us. We had all but forgotten about this. Papa Hoge was visiting and he was asked to leave the room. My heart absolutely stopped beating and hit the floor. I couldn't breathe. I knew something was wrong. James' doctor, nurse, social worker and nurse practitioner all came in the room to give us the news. I don't remember how the conversation went but I just remember feeling like my world was collapsing around me. How can this happen? I have never heard of the diagnosis but I just thought this meant James was going to die young. That was my question, "what will his life expectancy be?" They didn't have too many answers and handed us a printout describing Di George. They also told us not to look too much into it online, that many cases posted online are worst case scenarios and that he may very well be just fine as this syndrome varies greatly.

Bring on the tears. Adam was holding James at the time and I just took him and cried. There was this instant feeling of wanting to protect my baby from everything that was going to come. The tests, the judgements, whatever life will bring and throw his way. It makes me cry just writing this because all I want is for James to live the most normal, happy and healthy life possible -- all things that he may very well have, but we didn't know that at the time.

Fast forward through all the tests that followed. We have basically been told that it has been determined he likely has a mild form of the syndrome. We don't know anything for sure as many issues surface and come with age and him growing and developing. His calcium levels are normal, his lymphocytes are on the high end for the syndrome but a little low for a baby his age, his kidneys are fine, his heart defect is something he can live with for now, he hasn't had any infections that we know of, he doesn't have some of the typical facial features, and he's growing on the normal curve for a preemie. All positives. His feeding issues are where things get confusing. Are they because he is a preemie and these are normal preemie issues or is this the Di George? We don't know. Hence his long stay in the hospital and allowing him to grow, mature and sort things out. We do know there are no obvious palate issues but there may be some hidden issues that aren't easily observed, hence the swallow study we will soon be having.

Until then, just know that this little boy is so loved and is getting the right help and is in the right place to grow into a strong, happy and healthy boy. He will be OK! We go about our days as if this diagnosis hasn't changed anything because really, it hasn't. If anything, it's changed our perspective and we love him that much more. We take everything day by day because that's all we can do.

U.S. National Library of Medicine - 22q11.2 Deletion Syndrome
22Q Foundation