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!