Testing and Then Some...

Yesterday was a long day in St. Louis full of medical tests--for all three of us!


First of all, I should probably begin by saying that Adam and I both joined the Be The Match bone marrow registry in hopes to save someone's life if we were to someday be a match to one in need of a bone marrow transplant. After only being in the registry for 4 months, Adam received a call and was told that he was a possible match for a 61-year old man in Indiana with leukemia. For confirmatory testing, Adam had some blood drawn to double check that he was a good match for the recipient. It came back that he was a good match and Adam will be donating his stem cells via PBSC in April. The video below explains the donation process.





The appointment yesterday at St. Louis University Hospital yesterday was for Adam's information session. Adam completed a full physical with a hematologist/oncologist, received an EKG and chest x-ray, and provided a urine sample and blood test. We also got to see where Adam will be doing his donation--which will take five and a half hours! Yet, a small price to pay for potentially saving someone's life!


After all of the testing for Adam at St. Louis University Hospital, we headed over to St. Louis Children's Hospital for Wade's appointment with a geneticist. Although we already know Wade has SDS, we wanted to follow up with a genetic counselor in St. Louis to talk about parental genetic testing to confirm that the two genetic mutations Wade has for SDS came from each parent. This is the most common explanation for Wade's diagnosis-- making me and Adam each a carrier of SDS. However, sometimes, in rare instances, both mutations can come from one parent. All of this information can help determine the likelihood of another child's chances of having SDS. If Adam and I are both a carrier of SDS, the chance of having another child with SDS is twenty-five percent (shown below).

The genetic counselor also discussed the options available for prenatal testing when we decide to have another child. They will be able to test the baby for SDS with the amniocentesis test. She provided us with the phone number for the Prenatal Genetics clinic at Children's.


After talking to the genetic counselor, the geneticist came in and provided us with information about Shwachman-Diamond Syndrome (nothing we didn't already know). He then said that he would like to do a full-body x-ray in order to get a good look of his bones. So we left the clinic with three orders--genetic test for Adam, genetic test for me, and x-rays for Wade.


First we hit up the lab, where it took forever to register three different people. (I'm so freaking sick of signing the HIPAA). Since they were unsuccessful drawing blood from Wade last week, they had to try again. Luckily, a really good phlebotomist was able to get a vein on Wade (which is near impossible)! There were tears, but at least it was only one stick. They also had to take blood from me and Adam for the parental genetic testing--and no tears from us!


Lastly, we headed down to the Imaging Center for Wade's x-rays. The x-ray technicians were awesome in getting the images taken quickly, since Wade was crying from being held down. It actually wasn't a horrible experience like I thought it might be. Maybe I expected the worse--but it was relief to be done in about 10 minutes!


So, a long day came to an end around 5:30pm! Adam and Wade were both troopers for having so much work done on them. We anticipate all of the results and I'll fill you in when I know more!

Appointment Last Week

Sorry for the late post, but W had an appointment up in St. Louis last week to see his GI doctor. My mom went with me for this visit and we stayed with friends the night before. Our day started early because he had a 7:30am appointment to get an ultrasound done of his liver. His liver enzymes had been elevated and they wanted to take a look at what was going on. Poor W had to fast for this procedure and he was not that cooperative when they did the ultrasound. It didn't hurt, but my little boy hates being held down. The ultrasound tech was able to perform the ultrasound, but then had to do doppler--which meant Wade had to be quiet. So, luckily she let him take a bottle during this, otherwise he wouldn't have been quiet.

Grandma and Wade playing in the waiting room.

We finished the ultrasound before 8:00am and had a huge gap in our day because our clinic appointment with the GI doctor wasn't until 1:30pm. We originally thought of going to some thrift stores in the area to pass our time, but since the weather was amazing we went to the St. Louis Zoo. We were able to save money on the parking and the Children's Zoo because we were there so early. We enjoyed the weather, the animals, the carousel ride, the train ride, and the ice cream! However, around 12:30pm, we had to head back to the hospital for our other appointment.

Mommy and Wade having fun at the Zoo.

Back at Children's, Wade had a 6-month follow-up appointment with his GI doctor. He explained the ultrasound results from that morning to us. They found some abnormalities with his liver and some fatty deposits on his pancreas--all to be expected since he has Shwachman Diamond Syndrome. They believe that this is all caused from SDS, but to be sure, they've ordered lab work that would test for any other metabolic disorder or mitochondrial disease that may also elevate liver enzymes and cause these abnormalities. In addition to the ultrasound results, I mentioned my concern with Wade's poor weight gain in the last three weeks (he only gained 2 oz in the last 3 weeks). However, the doctor and I both believe that since he has learned to walk, W is now burning more calories and that has been playing a part in his weight gain. So, it's not an immediate concern, but we will still do weekly weight checks. Lastly, I had to confront W's doctor about his rude nurse that is super condescending to me. I explained the several events in which she is unprofessional and I requested to see a different doctor so that I wouldn't have her as a nurse. He is going to speak with the director of the GI clinic to request a change.


Before leaving Children's, we tried getting W's blood drawn that the GI doctor ordered. However, the lab techs couldn't get a good vein (go figure!). So, we'll have to try again on Thursday when we go up to visit a Geneticist. So, after an early morning ultrasound, a trip the zoo, an appointment with the GI doctor, and getting poked in each arm, we finally headed home! What an exhausting day for all of us--but the zoo was definitely worth it!

Wade is Learning!!

Since the start of enzymes and getting tubes placed in Wade's ears, I must say that a huge improvement has been made in Wade's development. He is taking off in speech/language, motor skills, and overall development. Below is a list of developmental milestones that Wade has accomplished:

• Receptive Language--It's finally clear that Wade makes sense of what we are asking or saying. It started by me saying/signing "drink" while eating in his high chair. After seeing/hearing me, Wade searches for his cup, grabs it, and takes a drink. He also looks at the door if I ask, "Wade, who's here?". Another example is asking Wade if he can pat-a-cake (without me clapping my hands as a clue). He'll reply by clapping! He also understands bath time. When he's naked and I say, "Wade, let's take a bath," he walks straight to the bath tub full of excitement.
• Expressive Language--After months of signing to Wade, he finally started signing back! His first sign was "more" but now it has turned into pointing at the cabinet full of snacks or pointing at my plate for more food. Wade also started signing "dog" every time he sees a dog in a book or in person. We're working on many more signs such as shoes, bath, drink, daddy, mommy, chicken, pig, fish, etc. In addition to signs, Wade finally started talking. Although he only has one word down ("kitty"), he is trying to say more things and sounds. He says "da-da" but he doesn't say it only around Adam. I'm still waiting for him to figure out the letter "m" so I can hear "mommy" for the first time. 
• Motor Skills--As you may know from posting a video, Wade is now walking! In addition to this, he has learned how to stand up on his own. He's getting better and faster every day, as he practices all day long. Climbing is also fun for Wade, especially if he can climb on top of mommy or daddy. And, crawling is now a thing of the past.
• Other--Other milestones and activities that Wade can do include playing "pat-a-cake" and clapping, waving bye-bye, giving kisses, nodding/shaking head (but not to say yes or no), and drinking from a cup.

We're so proud of our little guy for making such great progress. Below are some videos that capture these great moments.

Ear Tube Surgery

Today was the day that our little guy got tubes in his ears. With any kind of surgery, I was nervous and scared, but also hopeful for the results (no more ear infections and closing the gap with his speech/language delay). We stayed with some friends last night that live in St. Louis so we would be that much closer to the hospital. We had to check-in this morning at 6:30am for an 8:15am surgery time. Since Wade couldn't eat or drink anything before his surgery, he was sucking away on those fingers. 

Luckily, they had a play room area for kiddos while they're waiting for surgery. After asking if the toys are clean and sanitized, we let Wade play to distract him from being hungry. Wade fell in love with a "Cars" car in the play room. Wade even made a friend, Collin, in the play room who was one month younger than him getting tubes in his ears too. (Collins parents thought Wade was really young since he's "so small" but they were probably shocked to find out that Wade is actually older).

After some good playing time, Wade received his dose of tylenol/codone. A few moments later, the anesthesiologist team came in and asked a few questions, then took Wade away for surgery. (Although sad, I didn't cry, and neither did Wade!) Adam and I stayed in the room and watched TV until his Otolaryngologist came in to talk to us. She explained to us that surgery went great and that there was thick fluid in each ear, so he was definitely in need of the tubes. She also said to schedule a clinic appoint for 4-6 weeks from now. 


Adam and I kept waiting until we finally received a phone call in our room. It was the nurse in the recovery room and she told us that Wade had woke up and we could come see him. We grabbed our bags and headed for the double doors for the recovery room. As soon as those doors opened, I heard a baby crying and I knew it was Wade (a mother knows). I instantly grabbed Wade from the nurse's arms and tried to calm him down. I could tell that Wade was confused and his eyes weren't even opened yet. He smelled of the gas anesthesia and he was coughing and throwing his head back. (To my surprise, he did not have oxygen on and his stats were great!) After about 10 minutes of jumping between mommy's arms to daddy's arms and no luck of Wade calming down, the nurse gave him more codone and some gas drops. They said to walk around with him and after about 15 minutes of walking around the Same Day Surgery floor, he finally calmed down.


We went back to our room and I tried to get him to eat something. Once I got his cue of finger-sucking, I fed him a bottle. A couple minutes later, a nurse came in to collect his vitals. As soon as she walked in the room, Wade perked up from laying on my chest and giggled at the nurse. I was completely surprised at how fast it was for Wade to laugh and flirt as if he had never had surgery. Here it was, less than an hour after his surgery, and he was back to his normal self. (This was a completely different experience from his bone marrow biopsy back in December.)


After instructions of how to use ear drops and signing some paperwork, we were discharged at 10:00am. We left the hospital and headed home. Since arriving home, Wade re-visited with his kitties, played with some toys, and is now napping.

Although nervous before his surgery, I am very pleased at how well Wade did today. I pray that he no longer has ear infections and that his speech/language skills will improve soon. Thank you to everyone who thought or prayed for Wade today that his surgery went well. Prayers are very powerful and always welcome!