Sammy

It's nice when Sam's blog doesn't need to be updated because he has been doing relatively well.
For the past year and a half he has been plagued with nuisance infections like thrush, various ear infections and skin rashes, but he has only been hospitalized once for pneumonia. With his syndrome he has soft bones and broke his collar bone about a year ago. I found out it was broken 2 week later when I noticed a bump (callus) forming. The doctor told me that a callus forms when the bone begins to heal. He also has a high pain tolerance. All I could think of was about 2 weeks previous he had woken up from a nap sobbing. I gave him Ibuprofen as is my rule for him, but that was all he got; Ibuprofen after his nap for 2 days. It takes him longer to heal in general so even after a year his callus remains.
Here he is on his flight with Steve headed to Maryland. That iPad is sure worth it!

Sam was so wired while we were there: running all over and tripping as he went, climbing all over and then flopping out of our arms when we'd pick him up. We had a 5 minute tag team going most of the time. 5 minutes was all we could handle at one time.
But he was AMAZING when he needed to be. He held still when they were taking his blood, even though they had to try twice. He cried, but the kid held still!
He sat perfectly still while the technician fitted him in a chair for a panoramic tooth x-ray. He had to hold on to a bar while biting down on a specific spot, while his head was held in place by 2 bars. I thought he might freak out, but the kid held still.
And finally when he needed to hold completely still for a CT of his lungs, he did so with flying colors. Remember that in between all these tests he was off-the-wall! I was so impressed with his willingness to do what was required of him.
The tests they ran turned out well. They gave us the go-ahead to let him try milk again, a substance he shows a positive for allergy. Apparently allergy to milk is a IgE response, so in a kid who has Hyper IgE's its inconclusive to do a blood allergy test.
The CT of his lungs looked really good. He has healed from almost all of the damage done by his pneumonias!
We learned that the NIH are learning more about Job Syndrome through their studies. The new things are good to know, but also depressing. I don't like to think about all the things Sammy is prone to. The best way to manage is to just take it 1 day at a time. We tackle what currently affects him and let go of the worry of 'could happen'. Each day I asses Sam as to how he is doing and what types of activities he will be able to participate in. It's all done mentally and I don't report to anyone, but it happens all the same. Each night I asses again, using the otoscope or thermometer as needed. His life to me seems fairly normal and I do my best to make it feel normal to him.
Here Sam is playing at the Children's Inn we stayed at, it's across from the hospital.


After a long day we went into DC to see a few sites. Everything was closed but we are still glad we at least walked around. There were so many joggers at night, I'm sure we had 50 go past us on our walk. Here we are in front of the Washington Monument.

I flew with Sam to Bethesda, MD to get him enrolled in a Hyper IgE Syndrome study. I found out that Sam did not get this syndrome from either of us, but since its a defect on one of his genes he has a 50/50 chance of passing in on to his children. There is no cure, but there is a lot of research going on for this immune deficiency and he will have a better quality of life than patients discovered even 10 years ago.
Sammy on his way to the National Institutes of Health

First shuttle ride like a Big Boy. He did great letting all the doctors take thourough looks at him. The coolest part was the 3D imaging they did of his head. They took photos with a large machine that had about 10 cameras. When the image was downloaded they could manipulate his head to see every angle! This is useful since the bones in his head might fuse early and they want to keep track of his progress.
I brought suckers to pacify him because I knew they would be taking plenty of blood. They had about 10 viles and it was making me crazy watching the lab techs fill them up. No less than 4 pokes and 45mins later did they finally get what they needed.
I took Sam to the Smithsonian Zoo & Musuem of Natural History. He basically spent the day in the stroller which was a precursur to how he would spend his days in Disney. Now I have to bribe him to get into a stroller or car seat! He doesn't know if he's agreeing to a few minutes or hours!
To view our trip to Florida visit our family blog at http://www.sfairbourne.net

In reflecting on Sam's first year this weekend, Esther and I both felt like we had aged 3 years in the last year alone. I think I have a gray hair for each of the last 365 days. Not that I'm complaining...

Truthfully, though, we are grateful beyond words to be celebrating Sam's first birthday. He is such a joy to be around, and he truly adds a dynamic to our family that we can't imagine living without.

Though we have no idea what even the next year will bring, we are braced and ready to go.

Dr. Belani (infectious diseases doc) ran into Dr. Steven Holland (world expert on Hyper-IgE) at a conference this fall and he asked about Sam. He is looking forward to meeting our family next summer, as we plan to drive out to Maryland for some tests and to hopefully put together a care plan for Sam. Sam is one of the youngest confirmed-positive cases of Job's syndrome, so they are anxious to confirm if the case is sporadic or if it is carried recessively in our families somewhere.

It's hard to believe it's been just 4 months since we last left the hospital. It feels like such a long time. Sam has been doing remarkably well lately - not without some complications, but nothing like what we expected. We are down to just taking Bactrim twice daily and Pulmicort once daily. We still keep him fairly isolated (especially with school in session), but he's really starting to get around and even starting to walk!

The diagnosis of Hyper-IgE was also confirmed since our last post - Sam's blood was sent to Bethesda (NIH) for Dr. Holland to run tests for the genetic defect that causes Hyper-IgE. Indeed, he has the defect - this really only corroborates the diagnosis, as he is so symptomatic even a negative test would only have shown there is some other possible cause they have not yet discovered. They will eventually want to run more tests on Sam as the years roll on.

Probably the biggest single issue of late is the eosiniphilic dermatitis breakout on his head. It's very itchy and the only non-corticosteroid treatment for it is a cream that we have to use very sparingly. He itches so vigorously at times (especially in his sleep), that he bleeds and creates open sores. He's also been growing some ulcers in his mouth that have made it hard for him to eat comfortably.

On the whole, he's been quite healthy. We are cautiously optimistic for the fall and early winter...

I apologize for not updating sooner - as most of you know, no news is usually good news.

The good news is, we've been home for almost a week now. Sam appears to be doing well, but there are downsides.

We came home with a feeding tube installed, and it's been a real battle to keep it down and taped, especially with an increasingly active boy. Needless to say we are becoming intimately familiar with the best and worst ways to tape, glue and wrap feeding tubes. He is eating about 2/3 of the calories he needs during the day on his own, and we use the feeding tube at night to supplement, and for easy (relative) administration of medication.

Seems as though each trip to the hospital introduces new precautions, medications and processes that need to be administered. It's getting increasingly more complicated to keep sammy healthy.

Having said that, there is no price too great to have the family together. We are just hoping we can get into a rhythm and routine, perhaps generating some free time for luxuries like lunch, personal hygiene, date night, laundry and...sleep?



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Some more ups and downs today. Everything we are doing is focused on getting Sam to eat. He has a tray full of dozens of different types of bottles, nipples, straws, and sippy cups - all potential delivery vehicles for the food he won't eat.

They even tested his CRP and renal function today, changed his antibiotic to try and get his appetite started up.

He had another feeding tube put in this evening, we just couldn't wait any longer. He's been eating a little better, but when you're measuring what he eats in milliliters rather than ounces, just to make it sound like a lot of food, you have a problem. On the bright side, he did actually take about three ounces tonight, over the course of a couple hours. The best news is, he took it from his bottle. The tried and true bottle he's been using for months! So, there is hope he'll re-acquaint with the bottle and eat. We are fine with it either way, we just want to get our baby back home.

It's a beautiful day here in Minneapolis. We spent the morning enjoying the view of blue skies out the 7th floor window, trying a thousand different ways to get Sam to eat.

Dr. Shapiro ordered his feeding tube shut off so he would be hungry, and his IV was turned down to TKO (just enough flow to keep the vein open) to make him thirsty. No sooner was I on the phone to Esther explaining the turning down of feedings than Sam snagged the 1/16th of an inch of tube that was not taped down and ripped it out of his stomach. I didn't know how long it was, but knew I had more line in my hand than was in his nose. By the time the nurses arrived, the tube was completely out. Sam and I were both sprayed in some unpleasant combination of bile, prevacid and elecare. Guess we won't be needing that anymore...

Our neighbor Danielle (who happens to be a speech therapist) had offered to sit with Sam for a while so the other kids could enjoy some mom & dad time. We took her up on the offer, so while we went for a walk around lake Calhoun and ate sloppy ice cream cones, Danielle got Sam to take 1.5 ounces of Elecare! May not sound like a lot, but it really helped us help him get back on the horse, so to speak.

He ate another 2.5 ounces before bed (via a straw), so we're making some progress.

The Pulmonologist on call today informed us that because of the Pneumatoceles (holes) in Sam's lungs and the risk of associated infection, he needs 14 days on the IV antibiotics, rather than 10. It's a bit of a setback, but we'll just do the best we can.

Obviously we'd rather be home together, but we also don't want to bring him home prematurely if he's not on track for a full recovery.

We were also told that his NJ tube is not in his upper intestine, it's just coiled up in his stomach. The reason we were okay with the NJ tube is because it bypasses the stomach, ensuring he does still get hungry so we can continue to work on his recent feeding aversion. We'll be talking with the doctor about that tomorrow.

Our original thought was that it would take weeks to get on the schedule to have Sam's blood tested in Maryland, but when they found out that Sam's in the hospital, they found an opening for tomorrow! The lab techs drew 8mL this afternoon and it is now en route to the NIAID lab in Bethesda.

It will still take 2-6 weeks to get results, but at least we don't have to wait to get things started.

Since Hyper-IgE is where most of the medical team is leaning, it's important to get this result so we can confirm or keep looking.

We are still a little anxious about his Pneumatoceles. We are hopeful that tomorrow's x-ray will at least not show the holes getting larger or abscessed.

More tomorrow...

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We just found out that Dr. Steven Holland in Bethesda, MD will take a sample of Sam's blood and test it for the STAT3 mutation that causes Hyper-IgE Syndrome. This is great news as it will possibly give us a definitive answer on whether it's the underlying source of these infections. We still need to work out the details, but it's very positive news.

Sam's pulmonologist today also warned us that the Pneumatoceles (small holes or cysts) in Sam's lungs appear to be maturing on the latest x-ray. They'll be watching it carefully over the next 24 hours to see if they respond to treatment and Sam's natural (albeit weak) ability to fight off infection. If they start to abscess, further action will be needed.

We are hopeful, but certainly not out of the woods yet...

Today was a very eventful day. Sam has really struggled with eating, particularly from a bottle. So, even though he has been eating some rice cereal from a spoon for the past 24 hours, it's too little too late. It's been 5 days since he's eaten anything substantial and a feeding tube (nasojejunal or NJ) was ordered today. Not a fun procedure, but we all agreed he needs the nutrition. This tube bypasses the stomach, so at least we'll still be able to feed him as he regains his appetite. Hopefully this setback will not adversely impact the duration of our stay. He has 7 more days of the IV antibiotic, and a lot can change in 7 days.

We were moved from the 6th floor up to the 7th floor today. We feel good about this move, as so many of the nurses on 7 are familiar with Sam and we are familiar with them. It's been a hard day filled with hard realities. We miss the kids, we miss each other and would love to see Sam make consistent forward progress. We can't hang our hat on any particular diagnosis or theory yet. We are hopeful and prayerful that Dr. Holland in Bethesda, MD will accept Sam in the STAT3 study. This study would confirm or rule out Hyper-IgE syndrome. There are many other theories swimming around for which he's being tested, this one happens to be the most difficult to do and perhaps one of the more likely culprits.

In a lot of ways this has already seemed like our longest hospital stay yet. A lot of the choices we've had to make as a result of the timing of this round have made it particularly painful. We are grateful for the support of our friends and family. It's easy to feel isolated in situations like this, and the calls and visits are greatly appreciated.

Well, Sam has not eaten any food since Wednesday. He's getting the fluid he needs, but he's losing weight. The doctors are saying he'll eat when he's ready. You can tell from his cry that his throat is still sore and he's not feeling very well yet.

He is still on oxygen through a nasal cannula. His oxygen saturation stays high when O2 is removed, but his respirations/min go up as well. His body has learned to adjust oxygen levels by increasing his breathing rate.

He was moved from Vancomycin to Oxacillin today. The Oxacillin is more targeted to Staphylococcus Aureus, whereas the Vancomycin is more broad spectrum, often used as a "drug of last resort" for methicillin-resistant strains of staph.

He seems to be in pretty good spirits today, with plenty of smiling and talking. If we could only get him to eat something...

Sam has still been fairly lethargic today. He doesn't always appear stressed when he's sick, but he does now. Just this evening he started cheering up a bit. This boy is definitely enamored of his mom - I think in some small way he knows of her importance in his life and treatment. He's a very lucky little boy.

The doctors have some new theories, some old theories, plenty of strange and exotic tests to run, but no diagnosis yet. We won't prognosticate any further until we have something solid. We have resigned ourselves to the fact that this is our new life, so any diagnosis will be good news in the sense that it gives us a direction; a course for treatment, even if not a course for cure.

The other kids are having a blast in Hartford with the Roemers, only occasionally waxing homesick. the family distance is hard on all of us.

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The cultures taken from yesterday's bronch grew staph bacteria. Once again, a common bacteria is causing a very uncommon and severe reaction in Sam.

The good news is we're getting a lot of attention from our team of doctors. Being in the hospital really gives Sam's condition due weight. They are drawing blood multiple times daily to run a bevy of tests and studies.

The bad news is that this pneumonia requires a 10-day antibiotic course that can only be administered intravenously. We are earnestly praying that his bacteria will respond to the antibiotic. The earliest we'd be discharged is next Sunday the 15th. It's a tough sentence, but we feel up to the task.

The kids are staying with Esther's sister's family for the next week or so to allow us to focus on caring for Sam, re-sterilizing his living quarters, and work.

The next few days will be particularly difficult while Sam recovers from the bronch, fights off an infection, and gets back to eating food. We appreciate more than we can express your prayers and support...

Another bronch was ordered for this afternoon. Sam was anesthetized for it again. Due to his history of rare and serious pneumonias, it's no longer safe to assume that a simple 5-day penicillin variant will knock it out.

True to form for our medically complex conundrum, this one is serious. It's not pneumocystis, but the biopsy revealed a large ball of pus in his lower right lobe. It was successfully extracted, and Sam is recovering nicely. He is currently on 3 antibiotics to treat all of the possible infections. Once the culture grows, we'll be able to narrow it down.

Once again our frustration is getting caught up in the short game. The real issue is not the pneumonia, it's what's causing it over and over and over.

The silver lining to being in the hospital again is that this brings the issue to the forefront of the doctors' minds. We need the brain trust to invest some time into getting us a diagnosis and long-term treatment plan. We need the fence on the cliff, not the ambulance in the valley.

Dr. Paulson wanted to see Sam first thing this morning. Not a moment too soon really. Last night was rough, complete with some very labored breathing, vomiting and refusal to eat. Even with our toy stethoscope we were able to hear the rustling in his right lung. We knew what was coming.

The morning x-ray revealed a large occluded patch in his right lower lobe. Paulson conferred with Wheeler and they want us in the ER this morning.

Accepting that this is our new reality goes a long way in dealing with these setbacks. We are emotionally doing quite well. Exhausted but stable...

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Just 10 days after completing treatment for a less serious pneumonia, things really started spiraling downward over the last 72 hours.

We saw Sam's pediatrician Dr. Paulson late last week and his lungs sounded good. The bloodwork, however, told a different story. While his eosiniphils were down (that's good) but his overall WBC was way up, indicating a problem. His breathing really became labored and we went back to our 24-hour pulse-ox/hydration watch.
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We have been able to successfully treat Sam's third round of pneumonia at home. It's fairly safe to say we are through the worst of it. Our round-the-clock hydration and respiratory watch paid off and we only had a couple close calls. He'll continue his antibiotic regimen until next Friday, with a pulmonary follow-up this Thursday. He is also just days away from being completely off his steroid treatment, at which point our immunologist will be able to begin some tests to determine what kind of underlying immune deficieny is afflicting Sam. We are hoping to have a diagnosis soon so we can begin some kind of long-term treatment.

Yep, we cursed it. Things were going pretty well.

Some light sniffles last week gave way to some severe nasal and post-nasal congestion which has put a big damper on Sam's ability to eat. Caloric intake is dropping below where it needs to be. Even more concerning is his inability to shake the sniffles. Twice now it's escalated and his sniffles have turned into pneumonia.

Took him in for an x-ray yesterday and he is cloudy again. Back on Bactrim to try and clear the pneumonia at home. As long as he can breathe, we're trying to keep him stable at home, avoiding the hospital at all cost. We've also discovered a strange sore on his leg that the immunologist is going to weigh in on, hopefully today.

The relative calm of the last four weeks has been a welcome relief. Our lives have certainly not been the same with Sam in isolation - but in comparison to the weeks spent in the hospital, it's a cake walk.

Sam has been taking his Elecare formula very well, and is bulking up quite a bit. We are just 2 weeks away from being off of steroids which will be the gateway to possibly having a diagnosis. We are cautiously optimistic of some smooth sailing for a few months.

Apologies for the delay in posting - it's been a whirlwind for the last two days trying to get everything ready for Sam. He is now comfortably resting in his own crib. Even though it seems we're at the beginning of this medical maze rather than at the end, it's great to be home together again.

I'll continue to update the blog as we attempt to learn more of Sam's condition and how it will impact him and us going forward.

Once again, the silver lining in this ordeal has been our friends and family who have sacrificed much to help us get through. We are humbled by your love and compassion.

Well, it's been a good couple of days. Sam is taking well to the new antibiotic, and is not fighting the oral prednisone (steroid) too much. He actually had a solid stool today (which doesn't sound like a big deal) but after 6 weeks of diarrhea, that's a big deal. Plus, his blood work from today is the best he's had in 4 days.

We are fairly certain we'll be discharged tomorrow, and we are doing all we can to have his room ready. Without a real diagnosis, we are being very cautious with his home treatment. Here is what we know:

1. This is more than just a milk allergy. He has some mild to moderate immune deficiency.
2. His eosiniphil count is very jumpy. When those get too high, his immune system is compromised. The steroids help keep the eosiniphil count down.
3. His neutrophil count is very jumpy. You need neutrophils to fight infections when they first start.
4. He still has a very dangerous form of pneumonia that requires 3 weeks of treatment.

After that, there's not a lot we do know. We are going to do our best to protect him from school germs and other general nasties until we have more answers. His only outings for the next 6-8 weeks will be to the immunology clinic. Stating that is just as much for mom and dad as it is for the reader. It's been difficult coming to grips with the long-term nature of his illness. We are getting better, and we'll take the victories, no matter how small.

Our hope and prayer is that in due time we will have a diagnosis, or at least a long-term treatment plan and prognosis. This little man has big plans, and we need to keep him healthy!

The lab is checking Sam's counts daily now, watching for reactions to the various medications. The doctors think he is having an adverse reaction to the Pneumocystis antibiotic Bactrim. They've moved him to an oral antibiotic now instead (Mepron). I guess they're hoping that will stabilize his white blood count and eosiniphils. The steroid prednisone is now being administered intravenously instead of orally.

Our discharge date was pushed back again (not that we ever really had one expressed, only implied). It looks like Monday or Tuesday now, assuming we can get Sam to react well and take both the antibiotic and the steroid.

Not surprisingly, our doctors do not all agree on everything. We can understand and even appreciate that, but we get a different picture painted for us every time the door opens.