Giving Thanks for Good News!

I know that it has been a while since I've typed a blog post...but the saying "no news is good news" holds true for us! We have been very thankful for the good news and progress! Here is an update on both Wade and the baby girl/pregnancy.

Thankful for good news during Thanksgiving!

Wade's Update:
Since the last post in September....

• Wade has been improving in speech therapy and OT. He is making more sounds and words at his own pace. He has also strengthened his core muscles and is making great progress! 
• In October, Wade was finally weaned off the bottle for milk. Before, he would drink milk from only a bottle and now he is independently drinking from a sippy cup! 
• Wade has been gaining weight! We now only weigh him on a monthly basis. In September, Wade was 18 lbs, 0.5 oz. In October, he was 18 lbs, 13 oz, and now for November, he is 19 lbs, 5 oz!
• He was supposed to have his annual bone marrow biopsy in November, but we pushed it to February 2013 for insurance/financial reasons. 
• We also started a family cancer insurance plan with Aflac so in case one of us develops cancer the plan pays cash for various things, such as initial diagnosis, bone marrow transplants, travel, etc.
• Wade scared mommy on Monday this week with a trip to the doctor. He woke up very warm (101.3 F), with a cough, and wasn't himself. We got into the doctor's office right away and they did a CBC, blood culture, strep test, and a chest x-ray. The CBC results indicated that it must be something viral. The blood culture, strep test, and x-ray revealed nothing. We were sent home with antibiotics (just in case) and later that day, Wade was feeling much better. It must have been a one-day thing because he is back to his normal self!

He is drinking from a sippy cup now!

Big boy (23 months) enjoying his meal at McDonald's!

Baby Girl/Pregnancy:

Since the last post at 20 weeks...

• I have had ultrasounds every 4 weeks to check the growth and development of baby girl. Each ultrasound revealed normal growth and no sign of IUGR! 
• The last ultrasound at 33 weeks, she was estimated at weighing 4 lbs, 12 oz and was in the 56th percentile! That was W's birth weight at 40 weeks....so now I get to experience pregnancy with carrying an average size baby! I guess in a way I was spoiled by only having to push out a 4 lb baby, but now I can hope that the average size baby will be healthy!!
• I submitted the paperwork to the St. Louis Cord Blood Bank to reserve the baby girl's cord blood in case W may need it someday. Usually, you donate a baby's cord blood to the public bank, but since her sibling has a blood disorder, we can bank her cord blood privately for Wade if he needs it.
• The nursery is complete! Thanks to my mom, we put up the vinyl tree decoration and thanks to my husband, he hung up the wall hangings! The color scheme is light pink, dark pink, and green. The bedding is flowers/garden. See picture below!
• We have a name picked out....but it's a secret! 

Baby girl's room! Tree vinyl design is from Simply Said.

First Steps Review

Tonight, despite the tornado warnings and storms, we were able to hold Wade's IFSP review meeting (even if most of it was in the basement). We reviewed his goals made in February and discussed his progress since the last meeting. A few things were also updated as he is growing up and some of his routines have changed. 

A few things to be proud of:

• Wade has completely closed the gap with physical therapy and he's right on target for physical development for a 20 month old. Therefore, he has been discharged from PT (we will definitely miss his therapists, but luckily we're all neighbors!). Although he should continue to work on jumping and throwing/catching/kicking ball skills, there is no need for PT anymore.
• Of the 12 goals that were set in February, Wade accomplished 9 of them within 7 months! That’s 75% accomplished and let me tell you--his mommy and daddy are so proud!!

What to keep working on:

• He will continue to receive speech therapy and occupational therapy once a week. We will also keep our nutritionist consultations for advice/weight checks.
• His speech goal is to say more sounds/words and continuing to sign for communication.
• His feeding goal is to be completely weaned off the bottle by the time the baby comes (January). He eats solid foods and drinks juice from a sippy cup just fine, but still wants the bottle while being held for comfort. I haven’t been very firm in weaning him because I know how important it is for him to consume those calories. However, it’s time for him to be off the bottle!
• His OT goal is to strengthen core muscles, shoulder girdle, and fine motor skills, including the pincer grasp. OT will also help encourage the PT skills that he should continue working on (jumping and ball skills).

20 Weeks and Counting!

So, the half way point in my pregnancy has finally arrived! The second trimester is treating me pretty well and feeling the baby kick and move around is truly awesome! So far, the pregnancy has been great--including less morning sickness than with W! However, I'm gaining weight and showing different than before--my love handles have expanded even more and I hate it!

Yesterday, we had our 20 week ultrasound and met the Maternal Fetal Medicine doctor for high-risk pregnancies. The ultrasound was very exciting and we found out the gender--GIRL!!!! Now my mind is racing with nursery decor, bedding, names, etc! Although we'll re-still use a lot of Wade's equipment and things, I'm still excited about seeing some pink in our house! 

Since we're not doing an amniocentesis test to check for the SDS gene, the only thing the high-risk doctor can do is keep an eye out for IUGR (inter-uterine growth restriction) with this baby. We aren't sure if Wade was IUGR because of SDS, for a reason created by me, or if something went wrong with the pregnancy or development of the placenta. The measurements taken of Baby Girl in the ultrasound showed measurements right on track for 20 weeks. That was a big sigh of relief to hear that the development is normal so far. However, we'll repeat another ultrasound in 6 weeks to check development and growth again. I'm so glad that with this pregnancy, we'll be more cautious and actually do more than one ultrasound! Still praying for a healthy baby! She sure does look cute already!

August Update

I feel like I haven't made a post in forever! Sorry about that, I promise to keep posting! W hasn't had many serious things going on, but there are a few updates to mention:

• W's stools were still really loose on the pancreatic enzymes so the GI doctor finally bumped up the dosage. As of July, he now gets three capsules before he drinks a bottle of Pediasure and two capsules before a meal.
• After about two weeks of the enzyme increase, I told his doctor that his stools have not improved. So the GI doctor explained that sometimes the enzymes' effectiveness can be maximized if the child also takes a proton-pump inhibitor medication (usually prescribed for acid reflux). So, W has been trying out Prilosec to see if his stools improve. The compounded medication is nasty (and I'm talking NASTY because I've tried it) and trying to get W to take the medication was a nightmare. For the first several days, Adam and I struggled with keeping the the medicine in W's mouth from injecting it in his mouth with the syringe. Then, I tried putting it in applesauce, then chocolate pudding, but still no luck with W actually taking the medicine. Finally, I found a fruit juice that masks the nasty flavor of the medication and W is finally able to take his Prilosec. And, I'm happy to say that his stools have finally improved. He actually creates formed stools now!! Hopefully, since we're noticing a change in his stools, we can also notice a change in weight gain? (We've only been waiting for him to gain weight for about 7 months now!)
• We did go to the pediatrician in early August because W was cranky and pulling at his ears. Luckily, no ear infection was present! But we did find out that his right ear tube that was still holding on is now working its way out! I'm frustrated because his left ear tube began working its way out within 10 days of surgery and now his right tube started working its way out 6 months later! The pediatrician ordered a hearing test to make sure W still has good hearing with those tubes coming out. Finally, a happy note with his ears because he passed the hearing test with flying colors!
• Over the weekend, W pinched his finger in a sand bucket and it formed a blood blister. I instantly worried about it turning into an infection and wouldn't you know it--it's infected! I put antibiotic ointment on it tonight but I'm calling the doctor tomorrow. Darn infections!

6 Month Follow-ups

Two Fridays ago, W and I headed up to St. Louis for two follow-up appointments with his specialists at Children's. First we saw his Hematologist and there were two big topics of discussion--Neupogen dosing and baby #2's cord blood. W's doctor received dosing information from the Severe Chronic Neutropenia International Registry for Neupogen that differed from her dosing. She's waiting on the literature/studies that based their decisions but she basically told us that we have two options when it comes to dosing W's Neupogen: 1) current dose that's given on MWF (her suggestion), or 2) smaller dose given every day of the week (SCNIR's suggestion). I found some Neupogen curves online that demonstrate the difference in dosing and how it affects ANC counts, risk of infection, and bone pain. Although the MWF dose is currently working, I can see the benefits for giving Neupogen daily. However, that's 7 pokes for W in one week, rather than 3. Any advice from other SDS-ers? 


The second topic of discussion with W's Hematologist was the various possibilities since I'm expecting baby #2. Like any genetic disorder, the likelihood of baby #2 having SDS is 25%. So, leaving a 75% chance that the baby will not be affected by SDS, we want to save the cord blood for Wade, IF he were to ever need a bone marrow/stem cell transplant and IF baby #2 has the same HLA match for Wade. Once again, a 25% chance exists that baby #2 would have the same HLA as Wade, making it a good match for W to receive the cord blood if needed. I asked the doctor about a cord blood registry that she knew of that banked cord blood privately for a sibling donor. She told me about the St. Louis Cord Blood Registry, a public bank. Although this is a public cord blood bank, they also do what is called a directed donation, meaning that the cord blood from baby #2 will be saved in our family's name only. They are no time constraints on storing the cord blood and no fees in collecting or storing the cord blood. The only time fees would come into play would be if we get the cord blood out specifically for Wade. However, if baby #2 is not an HLA match with Wade or if Wade were to not need a transplant, we can always donate the cord blood back into the "public" part of the bank to be used by anyone else who may need it.


After Hematology, we saw W's GI doctor. I had some questions regarding W's lack of weight gain  in the last six months (total gain of 6 oz in six months = not good enough). We are still waiting for a food log analysis from W's dietitian, but I can already bet that W's pancreatic enzyme dosing needs to be increased. I believe he's eating more than what the enzymes can digest, resulting in loose stools and no weight gain. His current dose is 1 capsule for solid food and 2 capsules for a bottle of Pediasure. The GI doctor also thinks that W's enzyme dose needs to be increased, but he would first like to see the food log analysis. Because I'm me, I asked the question, "What if increasing his enzymes still won't help him gain weight?" and his reply was, "Well, if that's the case after optimizing his enzyme dose, then I would refer you to endocrinology, because we would have exhausted the possibilities on the GI and metabolic side of things." So, that's still a possibility if increasing enzymes still won't help W gain weight. SDS-ers: Is this common to have an Endo specialist? What is their role with the treatment of SDS?


So, after a morning full of labs, appointments, and questions/answers, my brain is now overflowing with "what if's" and endless possibilities that I have to wait out....and I'm not a very patient person!

I'm Pregnant!

Well, I'll get to the point: We're expecting our second child in January 2013.

Baby #2 at 7 weeks.

Although it is hard to make a decision about having another child after having one SDS child, we decided to rely on the reward outweighing the risk, even though we don't know for sure what God has planned for us. My husband and I always wanted two kids relatively close in age, so we are not letting SDS stop that. 


Obviously there are pros and cons to choosing to have another child with the risk of SDS. We may not be correct in our thinking, but we arrived at this decision together, and that's all that matters.


Pros:

• W will have a sibling
• We will have our family of four
• The baby may be completely healthy (25% chance affected with SDS, 50% chance of baby being a carrier of SDS, and 25% chance of not being a carrier at all)
• The baby may be a match for W someday if he were to need a bone marrow transplant
• If baby does have SDS, then mommy and daddy already understand the disease and it's treatment/outcome
• We are capable of handling whatever God blesses us with. (If God brings you to it, He'll bring you through it.)

Cons:

• Baby #2 may have SDS too (enough said)

Although there is a lot on my mind regarding the worry and "what if's" of Baby #2, I'll save that for another post. Stay tuned...

Kicking it Up a Notch

With the help of therapy, Wade is pretty much amazing for improving his skills in walking (even walking backwards) and squatting. He has also started to show more interest in half-tall kneeling and he has even went back in his development to master crawling and tummy time (the correct way)!


However, he is still low tone (especially in his stomach) and could be walking with better alignment. So, in order to correct these problems, the First Steps Program has ordered some therapy tools to assist him.


First, to correct his alignment, they ordered shoe inserts to help stabilize his feet and prevent him from walking on the insides of his feet. They hide inside his normal tennis shoes and we didn't have to buy any special shoes! Wade is a champ with the inserts because he has never complained or lost his balance with them.


In addition to the shoe inserts, Wade also has TheraTogs that he wears for 30 minutes a day. The TheraTogs are a stretchy outfit that is worn tight to the body so that it increases body awareness and helps improve Wade's tone and posture. Unfortunately, Wade doesn't like the TheraTogs as much as his shoe inserts. He is very whiny when wearing them so I usually try to let him play outside so he isn't focused on the unpleasantness of wearing the TheraTogs.

W unhappy about wearing his TheraTogs.

Adam's Donation Day

If you didn't know from reading this post, Adam was a match for a 61 year old who has leukemia! He was going through the process of taking Neupogen shots to prepare his blood for PBSC donation. Last Wednesday night, we all headed up to St. Louis for Adam to go through the PBSC process of donating his stem cells. We stayed in a hotel the night before because Adam had to be there by 6:30am to get started. The nurses gave him his Day 5 of Neupogen and drew some blood. Then they hooked Adam up to the apheresis machine so it could filter his blood to collect just the stem cells needed for the patient. Here is a picture of Adam just getting started on the machine.

He had to sit in that chair in that same position for 7 hours. He watched two movies and played games on his phone. Mommy and Wade hung out at the hotel and Union Station so we wouldn't be in the way at the hospital. When we returned to the hospital around 2:30pm, Adam was finishing up and they bandaged his arms where the needles were. Wade missed his daddy and had to check out what they did to him!

What did they do to you, Daddy?

I'm so proud of my Daddy!

Update on Recent Testing

Update on Liver Enzymes: 

Due to Wade's elevated liver enzymes, he had some blood work and urine tests collected to test for mitochondrial disease or any metabolic issues. (see this post). These tests all came back normal and the reason why his liver and pancreas looked the way it did in the ultrasound is because of SDS, not anything else. Thank God!

Update on Bone X-Ray:

The geneticist ordered a full-body bone x-ray since SDS patients typically have skeletal dysplasia (see this post). The results from the x-ray indicates what they would typically find with SDS patients. The geneticist did not find any additional concerns with Wade's bones. He just suggested continuing physical therapy to increase muscle tone.

Update on Parental Genetic Testing:

To confirm Wade's SDS genetic confirmation, they tested me and Adam (see this post).We're currently still awaiting these test results.
**4/26/2012 Update: The genetic test from me and Adam confirmed that each of us carry the SDS gene. Therefore, since we are both carriers, it is a 25% chance that other children we conceive would have SDS too.

Weekly CBC's:

As a way of figuring out the best dose for Wade's Neupogen, we do a CBC weekly--on Monday's. We originally had Wade on Neupogen MWF for about three weeks. Then his counts were too low on Monday, so we changed the dose so he would receive it M-F. After one week of M-F, they noticed that his ANC was still too low on Monday. So next they changed him to receive Neupogen daily (M-S). After one week of daily injections, his ANC count on Monday was 9,450! WOW! So, the Neupogen really does work but the hem/onc doctor said it doesn't need to be that high. So now we're back down to 5 days a week, but instead of skipping Saturday & Sunday, we're skipping Tuesdays and Fridays to keep his counts a little more balanced throughout the week.

Down to One

Here is an update on Wade's ear tubes. Ten days after surgery of getting the tubes in, Wade had a 15-month well-baby visit with his pediatrician. After looking in his ears, she confirms that his left ear tube is sitting at an angle and working it's way out. I was so shocked to know that this happened within 10 DAYS!!?! 

Adam and I didn't get too excited about it since he hadn't had any ear infections since getting them in. We had our post-op appointment today with the ENT doctor in St. Louis. They performed a hearing test and luckily he did a lot better than before tubes. They asked me if I had noticed anything with the tubes and I explained to them what my pediatrician said. The Audiologist looked in his ear and confirmed that the tube was out of the eardrum and now just hanging out in the canal.

So, when we actually saw the ENT doctor, she looked in his ear and obviously saw the same thing everyone else has been seeing. So, she asked for a nurse to come in and help hold Wade down so they could extract it. The doctor was able to retrieve it in less than a minute. Of course Wade cried because he was being held down, but I wonder if it actually hurt inside his ear?

Now, we have to watch out for any ear infections in his left ear for the next 6 months before we see the ENT doctor again. If he starts getting ear infections--it's surgery time again. :(

But, the only good thing if he does need another tube in his left ear is that we've already reached our insurance's maximum out-of-pocket for 2012!

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!

Services for Little Guy

Yesterday was a 6-month review for Wade's IFSP (Individualized Family Service Plan) with Missouri First Steps. We all met at our house and I was surprised that everyone showed up! We discussed how Wade met his goals written in his previous plan and we updated the plan to include new goals, such as correcting alignment with walking/standing, saying simple words, using common signs, gaining strength in his core, eating a variety of foods, and keeping up with a high-calorie diet in order to grow. We increased services and added a new one, so now Wade has the following services:

• Speech Therapy--once a week for 60 minutes
• Occupational Therapy--once a week for 60 minutes
• Physical Therapy--once a week for 60 minutes
• Nutritional Consultation--once a week for 30 minutes

I'm going to be busy keeping up with all of his therapy appointments, but luckily the sessions take place in the home. 

Also, I called the intake coordinator today at the Sikeston Regional Office (Division of Developmental Disabilities) and Wade automatically can receive services because he's already in the First Steps Program. The Sikeston Regional Office sets me up with a caseworker to be able to find resources, fill out applications/paperwork for various services/programs, and get other services for Wade that First Steps doesn't offer. He'll receive this until he's five years old! 

Neupogen is Working!

After one complete week of being on Neupogen, we did a CBC yesterday to see where he was on his counts. His ANC was 1165--a record high! We are so happy!

Discovering Resources!

This seems to be my full time job lately--finding resources for funding for expensive medications and the nutritional supplements that are considered over the counter. Our insurance company considers Pediasure Peptide and AquADEKs vitamins as "over the counter" and therefore are not paid for. I've been trying to find resources to be able to help us out since Pediasure Peptide is $166 for a case of 24 and Wade needs to drink 2-3 a day. 


I'm submitting paperwork to Abbott Laboratories to hopefully have them assist me with the price of Pediasure Peptide since our insurance denies coverage. Hopefully they will be kind enough to provide us with product or at the very least a partial reimbursement!


I've also found a great program to receive some freebies just for needing to be on pancreatic enzymes. Zenpep, a brand of enzymes, offers a program called Live2Thrive, in which anyone with a Zenpep prescription can receive free enzymes until age 2 (then after that age, a $50 voucher for each refill), free ADEK vitamins once a month, and your selection of free nutritional drinks (Scandishake, Scandical, or Carnation Instant Breakfast) once a month. Wade was on Creon, a brand that only offers freebies for Cystic Fibrosis patients. But after finding out about the Zenpep program, we're switching brand names and now we'll be getting his enzymes for free until he's two years old and free one-month supplies of vitamins and high-calorie shakes! This program is Awesome!


Earlier this week, Wade started his Neupogen shots and he needs them three times a week. The original specialty pharmacy, Coram, that the doctor called the prescription in at told me that EACH shot would cost $279.73. This was going to go towards his deductible, rather than paying a prescription copay. After having a week supply (3 shots) delivered to us, I questioned why this price was so high. So, I called our insurance and basically found out that Coram isn't their "preferred" specialty lab. So I asked who was and wanted a quote from them to compare the costs. They put me in touch with Accredo and I spent about 45 minutes on the phone with them to find out that a 28-day supply of Neupogen would cost........are you ready?.......$40 total. So, needless to say, we're switching pharmacies to Accredo. For a 28 day supply, I could have paid $3356.76 with Coram, but now I'll be paying $40 for a 28 day supply!! I was frustrated that I spent so much time on the phone and on hold, but this call was definitely worth it!!


And, I received a call yesterday from the Severe Chronic Neutropenia Registry to let me know that they received some of the paperwork for W. She asked for the rest of the paperwork from his doctor and then they could begin registering him into the registry. Remember, this is the registry that provides Neupogen for FREE once we're signed up, which may take about a month or so.

Long Day at Children's

Well, yesterday was an exhausting day at Children's Hospital, but luckily, W was very pleasant even though he missed out on his normal naps. We had to two appointments in one day and we stopped along the interstate on our way back home to meet his nutritionist for some free samples of nutritional supplements. 


First, at 9:30am, W needed to complete a hearing test. This was a very interesting ordeal since babies cannot talk to say when they hear a sound. They first had to "trick" Wade to turn his head when a sound went off by lighting up a box with a moving toy in it. Our smart cookie kept anticipating the box to light up and he looked over at the boxes without a sound going off. Needless to say, his test results showed a lot of "false positives". Anyway, W can hear, but he could definitely hear better if fluid wasn't in his ears all the time.


After the hearing test, we saw the ENT doctor. This visit was seriously the most "to-the-point" visit I've ever encountered with W. She came in and said, "Well, I see that Wade has had several ear infections lately. Can I take a look in his ears?" After confirming that he still has fluid in his ears, she continues to say, "Well, I think he's a great candidate for tubes. When would you like to schedule his surgery?" So, five minutes later, surgery is scheduled and we're on our way. Quick and easy!


After grabbing a bite to eat in the hospital cafeteria, we headed up to the Hematology/Oncology clinic. We were supposed to just see a nurse for W to receive his first shot of Neupogen, but we were able to sneak in a visit with the doctor. She was very talkative with us and we discussed several issues, such as testing me and Adam for genetic confirmation, fighting insurance for coverage, submitting paperwork to the SCN Registry and the SDS Registry, and the pros/cons of an elective bone marrow transplant before cancerous cells are even found. After talking for a while, he finally received his first dose of Neupogen. We had to stay there for an hour to make sure he didn't develop a reaction to it. We waited, no reaction, and after 5 hours spent at Children's, we were finally able to head home! We had one tired puppy who fell asleep in the parking garage...

Who is this Boy?

So...Wade has been on enzymes for two weeks now and I think I'm seeing some positive effects of the treatment:

• Active Play: Wade has been dancing, moving, throwing and banging toys and just plain excited to play! He "talks" while he plays and screams with excitement. He is definitely exploring and I've noticed him sticking his tongue out when he's "thinking" and figuring something out.
• Appetite: He has been sucking down bottles lately. Enough to where I've started making 6 oz bottles instead of 5oz every 2-3 hours. He's also been eating more solid food, instead of throwing it and playing with it.
• Development: In the last couple of days, Wade began taking his first couple of steps. We're all really excited to see him walk.

Watching him change into this excited, energetic, and happy boy makes me so PROUD and BLESSED!

W's First Steps!

So...after several months of cruising and walking behind walker toys, Wade finally got enough courage and strength to take a few steps on his own last night! He can't stand on his own yet without hanging onto something. However, hanging onto something else, he can now walk towards someone. Last night, we caught it on video....

We're so proud of our little guy! Soon he will be running around the house chasing the kitties!!

Finance Headache!

Well, I would say that I'm pretty organized and pretty knowledgeable when it comes to finances--since I'm a business teacher and all. However, these medical expenses and insurance claims are giving me a major "finance headache". I am currently keeping three spreadsheets to better track W's insurance claims, medical history, and medical payments paid for each year so we can claim them on our taxes.

Spreadsheet #1--I started keeping an Excel spreadsheet for all insurance claims shortly after I had W, knowing that paying the medical bills was going to be confusing. Luckily, I signed up online to see the EOB's online and I could better track my claims, copays, and the amount paid toward deductible and coinsurance. I have this spreadsheet color coded and I even started keeping one very similar to it for me and my husband.

Spreadsheet #2--This spreadsheet was developed last week after receiving some advice from other SDS moms to keep an electronic version of W's medical history.  I knew that it would be easier to start this now rather than later and only have to go back one year, instead of going back 7 years if I decide to start this document 7 years from now. I currently have four spreadsheet tabs to track various data on W:

• 1) Calendar of Appointments--calendar of all doctor visits including date, who we saw, reason for visit, result of visit/diagnosis, and any prescriptions prescribed.
• 2) Weight checks--monthly weight checks up until 13 months, then weekly. Now that W started enzymes, his nutritionist wants weekly weight checks. I also included a graph on this tab because I'm cool like that. ;)
• 3) CBC's--a track of all CBCs that W has had and his ANC for each. I'm working on deciphering each CBC report and this website has been very helpful at calculating the ANC.
• 4) Prescriptions--a list of all medications he has been on, including the date, cost, where filled, and when to reorder.

Spreadsheet #3--This spreadsheet I started just a few days ago after speaking to our new tax preparer. Now that our medical expenses are so high, we can claim medical expenses on our taxes. At first I thought I could use the same data from my insurance claims spreadsheet, but the IRS cares about the dates you paid your medical expenses, not dates of service. So, I've developed yet another spreadsheet to keep track of our expenses paid for each year. In this spreadsheet I'm tracking amounts paid for medical, prescriptions, medical miles, and glasses/contacts. I'll also have to print bank statements and highlight the amounts that match our medical expenses.

If you have received a headache just by reading about this, now you understand my "finance headache". If you haven't received a headache, you are more than welcome to do this for me!!

Something New...

Today I took W to the doctor because I suspected that he had an ear infection. He was also congested with a runny nose, but no fever. He in fact did have an ear infection (in both ears) and the doctor was more concerned with his congestion than normal. So, they did a breathing treatment in the office, which helped. They also swabbed for RSV and luckily that came back negative. 


We now have another antibiotic to go through for 10 days (yippee---insert sarcasm). Also, they sent home a breathing machine for us to use at home for a week. So now, I have to give breathing treatments to W every 4-6 hours. This is something new that we've never done before with him. Luckily, he tolerates them well and I'm home with him to ensure that they get done!

First Week of Enzymes

W started taking enzymes and AquADEKs vitamins on January 17. He needs an enzyme before every bottle or solid food feeding and the multivitamin once a day with a fatty snack (ie. peanut butter). The enzymes are little capsules and the multivitamin is a crushed up chewable tablet.

Let me just tell you that it has been a stressful week, for both me and W, to get the medicine down. You're supposed to mix the enzyme with applesauce, then feed it to him on a spoon. Yeah, that didn't go over well when W tried taking the spoon with the precious enzymes and either flinging the applesauce, spitting them out, or getting them all over his hands.


Luckily, I have the wonderful support of the SDS yahoo group--so I turned to other SDS moms and received some other ways to give enzymes. Suggestions included chocolate syrup, pudding, pear sauce, putting it in a straw, putting it in a syringe, and just dumping the enzymes straight into his mouth, then offering the bottle/sippy cup.


I tried all of them except the pear sauce, but luckily I found a method that works better than the rest. Believe it or not, the dumping it in his mouth and offering the bottle method has seemed to work the best! It's still not a perfect method, because W is now learning that when he sees the enzyme is in my hand he should glue his mouth shut! Arrggg!

SCN International Registry

Today I spoke to the representative to get W started in the Severe Chronic Neutropenia International Registry today--an organization that monitors clinical course, treatment, and disease outcomes in patients with severe chronic neutropenia. As a gift, this registry provides Neupogen to participants for free! Once he's set up in this registry, we'll then get him involved in the Shwachman Diamond Syndrome Registry, too.


I'm very excited to have his medical records be sent in for research in regards to treatment options. And of course, excited to have his Neupogen be provided for us--what a blessing!

Filling in the Gaps

W was born at 40 weeks and he was 4 lbs, 12 oz. They considered him IUGR (intrauterine growth restriction) because of his size and my placenta was tested and came back positive for placenta inefficiency. Initially, he did well with APGAR scores of 8/8, but at about 7 minutes of age he developed grunting, retractions and poor color. 


W was diagnosed with pneumonia and we were told he would be in the NICU for 7-10 days to receive antibiotics. He was intubated, then on a CPAP machine for about 2 days, then finally weaned to a nasal cannula. His first CBC at one hour of birth was normal, then WBC and ANC decreased and remained neutropenic since. Assuming he had an infection, an infectious work up was done but tests for Parvo, CMV, HIV and respiratory PCR were all negative. After a few days, they allowed me to breast feed, however, I also had to pump. Due to slow weight gain, we fortified my breastmilk and we did pre and post weights for intake. W was also tachypneic (breathed fast) and was not allowed to breast or bottle feed if his rates were above 80bpm--so they gavage fed him sometimes. After his dose of anitbiotics, negative reports for infectious diseases, and a passing car seat challenge, W was discharged from the NICU on oxygen. He was in the NICU for 20 days and remained on oxygen at home for 2 weeks.

Getting ready to go home from the NICU!

Due to his complications, we knew we had to see several specialists to figure out why he was so small (IUGR) and had low white blood cell counts (ANC). Read on to see his series of specialist visits...


In February 2011 (2 months), W was classified as Failure to Thrive with slow weight gain. He was sent in for labwork to test for cystic fibrosis and other malabsorption issues. All labs came back normal!


In March 2011 (3 months), he saw Hematology and was diagnosed with benign congenital neutropenia and we were told to complete monthly CBCs and report to the ER if he had a fever of 101.5 or higher. During the months, his ANC numbers were consistently low, even as low as 32 in July and 0 in August 2011. The hematologist wrote in her doctor's notes that she suspected Shwachman-Diamond Syndrome, but never mentioned it to me.


In April 2011 (4 months), W's pediatrician diagnosed him with low muscle tone. We were referred to an early intervention screening and we began the process to receive physical therapy and occupational therapy services.


In June 2011 (6 months), W started physical therapy once a week and occupational therapy (for feeding) twice a month. He also saw Neurology because of his low muscle tone and they discovered a very mild case of spastic diplegia, but it was recommended to just continue with physical therapy.


In July 2011 (7 months), W saw a Cardiologist because he was sweating during some feeds. The cardiologist didn't seem concerned and an EKG was normal, so he referred us to Pulmonology because of his fast breathing. The Pulmonologist ordered an upper GI  swallow study to look for obstructive lesions but none were found. We also saw a GI doctor in July because of W's acid reflux and our concern with the large volume of his spit up. He said reflux was so common with this age, that basically he would have to outgrow it.  He prescribed Periactin as a way to increase gastric motility, however, the medication made W a zombie, so we took him off. The GI doctor did tell me that he agreed with the Hematologist about "her hunch with Shwachman-Diamond Syndrome".

In August 2011 (8 months), we finally got in at the Genetics clinic. The geneticists job was easy because two other doctors had already suggested Shwachman Diamond Syndrome and all he did was order the genetic test to confirm it. We also moved from Colorado to Missouri in this month!!


In September 2011 (9 months), we met W's new GI doctor in STL. By this time, W had learned to sit up and his spit up amount decreased, so we discontinued his acid reflux medication. We also started services in Missouri for speech therapy (feeding), nutritional consultation, and occupational therapy.


In October 2011 (10 months), we received the lab results that confirmed that W has Shwachman Diamond Syndrome. We also met his new Hematologist in STL and she answered the many questions we had about SDS. She also ordered a bone marrow biopsy in December 2011. She explained that he would have to undergo a BMB yearly to detect any changes that could lead to leukemia.


In November 2011, (11 months), W had an ear infection.


In December 2011 (12 months), Wade had his 1st birthday!!! He also had another ear infection. Also, his GI doctor ordered lab work to detect pancreatic insufficiency, since that is hallmark of SDS patients. W also survived his first bone marrow biopsy!

In January 2012 (13 months), lots of information came in. He had his third ear infection in a row and was referred to an ENT specialist (we see her next month). W's bone marrow biopsy reported no abnormal cells! However, his ANC numbers are so low that his Hematologist recommended Neupogen shots 3x/week (which he begins in February). Also, his pancreatic tests came back and indicated that he does have pancreatic insufficiency and needs enzyme replacement therapy. We started enzymes and ADEK vitamins on January 17. Also, on January 19, his occupational therapist noted that he needs more services, especially physical therapy due to him locking his hips all the way out and in for stability.

13 months old!

In the Beginning...

The most miraculous day of our lives happened on a cold day in December 2010--I went into labor with my first child. After laboring at home for the first 5 centimeters, I finally arrive at the hospital ready for my epidural. I remember the excitement and adrenaline that I had to finally be in the labor and delivery room. I also remember my body trembling and feeling embarrassed that I couldn't control my shaking. (I asked the nurses if it was normal, and apparently it is--whew). After listening to the instructions to push, I pushed through three contractions with all my might. I finally was told, "He's here, he's here" and they threw my little bundle of joy on my stomach. All I was thinking was, "he's gray, why is he gray?" and all I could say was, "ahh, ahh, ahh". For once in my life, I was literally speechless.

The speechlessness was soon to be followed by complete obliviousness and then later, numbness. You see, when W was born (at 40 weeks), I thought everything was normal in my L & D room. However, by the time I was pushing, I had about seven medical staff members by my side--two OB doctors, two delivery nurses, a neonatal doctor, a neonatal nurse practitioner,and a neonatal nurse. Based on data received on the fetal monitors, they knew something was up, but we were all surprised to find out what it was. My little one was born on his due date and weighed 4 lbs, 12 oz. Shortly after the speechlessness, I remember someone saying that he's not crying the way he should be, so they wanted to do some tests in the NICU. I remember a nurse holding him up to take a picture of him before they took him away from me. 

 
As they took him away, my husband and friend followed them to the NICU. While alone, I quickly grabbed my husband's laptop and uploaded a picture to facebook--I couldn't resist. I was on cloud nine and still shaking with excitement that I had a baby! I was so giddy and happy that I made it through labor and delivery! When my friend came back, she explained in the most assuring way she could that W was having tests done and they stuck and IV in through his umbilical cord. Agreeing with her that this was what was best for him, I was still grinning from ear to ear that I had a baby, even though this baby was not in my arms nor healthy. Still oblivious to the fact that this experience was not the "norm" for a newborn baby, our stuff was gathered and I was wheeled into the NICU to meet my husband and see my son.

While in the NICU, the transition from obliviousness to numbness hit me when a doctor dressed in the full gown get-up approached me and said, "I'm sorry, we cannot let you see your son until he is stabilized." With my husband and friend by my side, I "listened" to this doctor explain things regarding my son. However, to this day, all I can remember from this conversation was that she was wearing glasses with thick purple frames. Words flew out of her mouth and landed somewhere other than my ears.

Still blank and numb, they wheeled me into my postpartum room, taught me how to pump, and told me and my husband to "get some rest". Ha. I think I stared into the darkness for about three and a half hours wondering, hoping, praying for my baby to be okay.

Finally, at four in the morning (four hours after delivery), a NICU nurse came into the room and said, "We finally have your son stabilized and you can see him now. However, you cannot touch or hold him. And, just to warn you, he is connected to a lot of machines and wires."

I fly out of bed and grab my husband. We follow the nurse to the NICU and we finally see our son. She was right, he was connected to a lot of machines, but I looked completely past that and only saw my tiny little miracle--and he was alive!