3

Hear and There

Over the past couple weeks Louie has had four different doctor appointments, besides his usual therapies. First we saw his pulmonologist (lungs) as a follow-up and medication review. Lou is doing well on his twice daily Flovent 40 mcg inhaler, which is considered his maintenance inhaler to maintain clear lungs. He also has Xopenex to use as a “rescue” inhaler, for asthmatic-like attacks, but thankfully we have not needed to use that inhaler much at all. The impending season of upper airway infections is hovering over us so we have a new game-plan for that as well: if Lou seems to be more congested or coughing more than usual, like a cold is coming on, I will use Flovent 110 mcg three to four times daily to nip it in the bud. The doctor also brought up the idea of starting Lou on a three-times-per-week dose of antibiotics, not as a preventative measure, but rather an anti-inflammatory measure, caused by viral infections, which Lou is more prone to getting. We are sitting on that idea for now and will go down that path if needed. As a last resort, for airway issues,  we have Decadron on hand, but that is a systemic drug and inadvertently decreases your immune system some, which is obviously not at all what Lou needs. It remains a very last resort to prevent a  hospital stay- let’s hope we never have to mention it again.

Next we saw the immunologist for follow-up as well, who re-checked his immune functioning cells. Overall, most cells are functioning as they should, some remain at lower than ideal levels, and some are absent. Compared with his last check, he is better in some areas and the same in others- so good news, we are not getting worse. However, the immune system is so extraordinary that each cell has a very important role; the lack of function of some, and lower functioning of others, can have a fairly significant impact overall. Thankfully Lou’s IGg (antibodies) are at great levels, so unless Lou gets hospitalized this winter, we will not go forward with IGIV- IGg infusions. The infusions would basically give Lou the immunity of the IGg host, so we joke that everyone would benefit from such an infusion as you would gain immunity without having to go through the battle of having the illness. However, the infusions are extremely expensive and would require a central line (IV into the heart) or painful subcutaneous (under the skin) infusions. Again, let’s hope we don’t have to talk about that again.

Third, we saw the ENT doctor, basically for follow-up but also out of my inquiries about Lou’s middle ear. Good news is that his ears are the cleanest they have ever been. I have been lavaging them in the bathtub, using a 12 mL syringe and bath water, and all his ear crud flows out. Woohoo! I was pumped to know that my ingenious invention was working. Lou doesn’t even mind the procedure either, he actually thinks it’s funny, like most things 🙂 I then went into explaining how Lou isn’t walking, his speech is still mostly babbles, and he is quite unsteady, all of which seem to point to an equilibrium issue, which lies in the inner ear. Lou has not had many ear infections, thankfully, but I feel as though they have sort of been neglected. We then had a tympanogram done, which measures the way the eardrum moves, and it should produce a graph that resembles a hill. Lou’s results were flat in both ears, representing little to no movement to stimulus. This often occurs when there is too much pressure behind the eardrum, thus restricting the movement. When we were in D.C. he actually had flat results as well, but we were told that it was due to all the crud in his ears; now he has no crud and still has abnormal results. (I have a feeling he has always had this issue.) A common way of dealing with it is to get tubes (grommets) placed, to allow the fluid to drain out, for the Eustachian tubes to open, thus allowing the inner ear to better equalize pressures. We scheduled the procedure on September 23rd in the morning. It will require general anesthesia but is a same-day surgery. Now let’s hope we do need to talk about this again, so I can tell you that he is talking and walking better after tubes.

Lastly we saw an allergist for the first time, as another specialty not yet explored, and out of recommendation from the pulmonologist and immunologist. We want to make sure there isn’t an allergy that we are overlooking, as Lou continues to vomit and have ongoing congestion. The allergist explained that there are two ways to test- on skin and through blood. There is not a blood test for food allergies, but you can test blood for environmental allergies. Lou’s vomiting is so inconsistent, and he has never developed the tell-tale hives, that there is a small probability he is actually allergic to any foods ingested thus far. So, we plan to take some blood while Lou is under for tube placement, and will test for environmental allergies. There are no particular foods I am super worried about, and I don’t want to put Lou through skin allergy testing, so we will not go there, and I will continue to avoid the common food allergens including wheat, dairy, and eggs. We should hear results on the blood testing within a couple weeks of the tube placement.

The current days have me feeling hopeful and grateful. Lou is such an inspiration and is making progress with mobility and cognition every day. I am admittedly nervous about the colder months ahead, but worries are a waste of time, right? Let the vitamins, inhalers and good hand-washing lead us.

 

 

7

Lou is Two!

_DSC3317

August 29th marked Mr. Lou’s second birthday. We had a construction-themed party including hard hats, toy trucks, bouncy ball “rocks,” construction cone squishy toys, blow-up hammers, a construction cake, and my first ever piñata. Cousins Brady and Dylan came, as well as second-cousin Isaiah, with parents Nik and Katie, and friend Griffin with parents Gary and Brittany (with baby Violet in-utero). Esme was involved too, of course, and she was a huge help with preparations and cake-making. Other attendees included grandpa, grandma, mama Lynne, papa Ric, and “GrAunty” Mary, Rose, Gail, and “GrUncles” Mike and John. Aunty Jen and Uncle Jeremy came, and  Jami and Peter completed the party; it was hot, hot, HOT! Thank goodness our air conditioner decided to stop working the day after the party, because we were indoors for the majority of it…….except of course for the “rock” piñata smashing and picture poses.

_DSC3339_DSC3321 _DSC3352 _DSC3353 _DSC3357 _DSC3359 _DSC3365

The rock eventually broke open revealing chocolate for everyone! It was slightly melted unfortunately, so good thing we had a cold refrigerator to stiffen up those little Snicker bites.

And as usual, there were lots of good conversations, food, and an abundance of presents and love for the birthday boy.

_DSC3319 _DSC3330 _DSC3332 _DSC3376 _DSC3377 _DSC3385

The present opening was pretty chaotic, but that’s okay because the kids were having fun. Esme and Brady eagerly opened most of the presents while Lou watched the excitement unfold. He’s mama’s boy and does get overwhelmed with large crowds, so good thing I had those helpers 🙂 Lou was blessed with new clothes, toys and money by the most generous family and friends ever.

I got adventurous this time around and decided to create my own cake for my boy. Here it is! I think it turned out pretty well…a few glitches were learned for next time.

Gluten-free chocolate cake, coconut cream/whipped cream frosting blended with coconut and cocoa, and cookie/fudge center, including candy rocks from Tremblay’s in Stillwater. I made the flags with construction paper and toothpicks and picked up the truck at Tar-jay.

_DSC3325_DSC3392_DSC3396

Louie’s favorite part was when we all sang to him. Music is his favorite.

_DSC3398 Clap, clap!

If there would have been bets on how long Lou would stay awake I would have lost a lot of money. The craziness of the party gave him a second-wind apparently, and he stayed up for the whole thing. SOoo he was up from 3pm to about 9 pm. I couldn’t believe it; a huge change from last year when he crashed mid-party. I will attribute this new endurance to his maturing body, and the various supplements I give him- coconut oil, a special iron mix, fish oil, and probiotic. Let’s keep this boy growing!

And speaking of growing he had his 2 year well-check the day after his birthday, and he weighs 23.5 pounds now! Woohoo. I’m proud of that weight. Considering all he has been through, and the amount of vomit that has come from this sweet boy..he is doing well. He is now on the growth-curve for weight at the 5th percentile! His height is lagging behind however, and he is not on the chart for that one…..yet. Those with TTD do tend to have short-stature though, so he may very well be a little guy. As long as he is healthy we will sleep well.

A BIG thank you goes out to you all for the birthday wishes and support. Keep praying because this boy is held dear to his parents hearts. We love Louie and Louie is love 🙂

_DSC3387

4

Sheena

How could I forget Sheena. She is our first baby and has seen our family evolve. I remember bringing her home as a small, white, fluffy and very scared girl. Her night long yips and yowls were the best practice for having our own (human) children. 

August 8th marked Miss Sheena’s 5th birthday….or is it 35 in dog years? Either way she truly is the sweetest lab there is. Her idea of the perfect day would be lying in the sun gleaming on the dining room floor, while being petted and coddled. Sheena also goes pheasant hunting with Ryan a few times a year, but she is just a lover at heart.

Esme has pulled Sheena’s tail (but knows she shouldn’t) and Louie nuzzles his face in her neck while squeezing her ears. Sheena just lets it all happen and loves anyone she meets. I really love her and she makes us laugh- just the medicine we need 🙂

ImageImage

ImageImageImageImageImageImageImageImage

Image

6

“Louie, no puking!”

The biggest frustration has been Louie’s ongoing issues with vomiting and troubles eating. The issues started around 2 months old, when he would drink an ounce or two and soon after throw-up. Not spit-up; throw-up-everything-in-his-belly vomiting. My first concern, as a nurse was pyloric stenosis, a disorder of the stomach causing perpetual vomiting, requiring surgical correction. We were happy to learn that he did not have that, however, what in the world was causing all this? We tried multiple different formulas (which we used to supplement my breast milk with), bottles, burping positions, elevating the crib, and thickening agents. Nothing made a huge difference and there was no pattern to the vomiting- sometimes he drank and burped well, but mostly he was vomiting after feedings. His weight plateaued at 16 pounds, around age 1, so off to the GI doctor we went, and later decided to place the g-tube. Louie gained about 4 pounds within a few months of the g-tube placement, but the vomiting continued. We were able to compensate for the vomiting by hooking him up to a continuous feeding at night.

Lou has been able to steadily gain weight with the g-tube, but here we are today, at almost 2 years old, and he is still vomiting at least 3 times daily. He also isn’t able to have more than 2 ounces in his stomach at a time. He remains on Neocate formula, and Neocate Nutra, which is similar to rice cereal, as the staples of his diet. The Neocate products are high calorie and hypoallergenic. I feed Lou by mouth with pureed foods as well, but he really isn’t thrilled about it, and after 10 bites- sometimes before then- he typically gags and vomits. Yes, vomit has become part of my every day routine and the grossness doesn’t phase me. But it really, really frustrates me. I spend so much time and energy trying to get my Lou to grow and enjoy food and all the sudden it comes back out. Lou does not do this on purpose and I don’t get mad at him, I just really want it to stop, or at least get better. His gag reflex has improved over the last several months, and he is able to have food in his mouth without gagging. I have tracked the food I give him, to try to find some trend with the vomiting, but even with plain Neocate Nutra he vomits.

Because he has a g-tube I am able to give him boluses- basically a liquid meal through the tube. This is great because if he doesn’t feel like eating – which is usually the case- or he is sick, he can still get the nutrition. Lou also continues to be hooked up to a continuous feeding overnight for additional calories. We don’t know where we would be without the g-tube, it really has decreased the stress of making sure Lou stays hydrated and grows. Esme and I give Lou a talking-to every now and then, and together we say “Louie, no puking!” Lou thinks that is funny, obviously.

For the past 6 months or so I have been doing something that you will think is gross and weird, but it works. Lou tends to puke within 30 minutes of eating, whether it is given via g-tube or mouth, so I catch it in a “puke cup.” We have the puke cups strategically placed throughout the house so if there is a puke coming on you just grab the cup and catch it. And then, I give it right back to him through the g-tube. He doesn’t taste it again, I just put it right back in his stomach, and typically he is then fine. After vomiting Lou acts like not much happened and he continues on playing.

All this vomiting poses many challenges, besides just ensuring that Lou continues to grow and gain weight.

– There is a 75 percent chance Lou will puke if there is food in his stomach during a car ride. Cleaning a car seat full of puke is stinky, hard work.
– Hold Lou with caution or you will get it.

– People stare at you in public, and perhaps think, Why would you bring your sick child shopping?

– The feeding pump, and many feeding supplies must be remembered with all outings, as well as several outfits, and a towel for puke clean-up

– You cannot leave Lou’s side for 30 minutes post feeding, or he will definitely puke- especially if you go to the bathroom 😉

 

I have hope that the vomiting will improve. Because TTD is so rare…. there isn’t enough research to determine why the vomiting occurs, but many kids with TTD suffer with this. Some articles about similar situations with vomiting, showed that it improves around school age and then goes away. We will have a big huge party if that happens, but in the meantime, I continue to catch puke.

3

D.C. continued

The remainder of our stay at the Children’s Inn/NIH included audiometry testing, x-rays, a dental exam, and wrap up discussion. Thursday and Friday were our days to explore downtown D.C. and do whatever we want, before flying home Friday night.

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

Before I forget, here is a picture of that “resting energy expenditure” test. Futuristic looking.

_DSC2910 _DSC2915

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

The audiometry (hearing test) is always interesting with a baby or toddler. Lou was hooked up with special headphones in the soundproof room, and sat on my lap looking away from me. The audiologist spoke to Lou with a series of words, that we had previously discussed as being words that Lou understood. He knows a few signs that he can show as well, like, cow, sheep, pig, and body parts. Of course all Lou really wanted to do was get down and play so the test was not terribly accurate or helpful. It also didn’t help that he has chronic build-up of sloughed skin and also some wax in his ears, so the sound waves do not bounce around like they should. But overall, the audiologist concluded that Louie is hearing well, but he will need to be monitored for the skin build-up that may affect his hearing if not removed periodically.

One of the most interesting test results came from an array of x-rays that Lou went through. Believe it or not, we were able to get x-rays taken of all his bones. Louie actually handled the process fairly well, with the help of Dad’s funny antics and a yellow stuffed animal fish. Ryan held him in various positions under the x-ray machine, while Debbie, a medical student and I, watched the images appear on the computer. It was neat to see his little skeleton and teeny tiny finger and toe bones. The reason for all of this was to see if there were any underlying skeletal abnormalities. And to our surprise he was found to have more dense than usual bones in his central body, and less dense than normal bones in his legs (aka. osteopenia). This aligns with TTD, and not surprisingly, it is not known why this occurs. On the up side, there is not an increased incidence of fractures for some reason, as you would expect with less dense bones. One way to increase bone density is to do weight-bearing activities such as walking or running, and Louie has not been on his feet for much of his life, so implementing more upright activities should help the less dense areas. Unfortunately there is not a medication to help with this, because he has two extremes. Thankfully nothing unexpected (for the researchers) or super worrisome was found.
We also had the pleasure of meeting with Dr. Chambers in dentistry. Many children with TTD have dentition issues, which may be related to the erosion from stomach acid in the mouth during vomiting. Lou had not yet seen a dentist, so this again was a special meeting. Other than some thrush, of which I already knew about because he gets it from his inhaler, Lou’s teeth looked great! Granted, they have not all erupted yet, but he has at least 12. She recommended brushing twice a day with a “smear” of fluoridated toothpaste and to follow-up with a pediatric dentist every 6 months. We will also continue the reflux medication as it suppresses the stomach acid, and thus also protects his teeth during vomiting.

_DSC2916

Our last scheduled event was a discussion with Debbie, the research nurse that was with us at all the appointments, Dr. Kramer, and a medical student, regarding the test findings and to answer our questions. Overall, the test findings were all consistent with TTD, giving us insight as to what to watch out for, follow-up appointment frequencies back home, and of course to provide information for research. They recommended we see a physiatrist (a doctor of physical medicine) to evaluate Lou’s mobility issues and to consider orthotics (we are set to see a doctor at Gillette in the end of August). In a way our sweet Lou was like a guinea pig, but we certainly were not treated like such, and all the testing was safe. It also provided us an opportunity to learn more about TTD and Lou’s case, because after all, the only experts on this are here. They plan on flying us out to visit every 2-3 years.

_DSC2923

We left the Inn on Thursday morning, took a shuttle to the airport, and then a taxi took us to our hotel just down the road from Watergate.

_DSC2965

And then for the rest of the day we walked, and walked, and walked. We tried to see as much as we could, and the weather was perfect.

At one point we were starving and couldn’t find a restaurant, so we bought a “giant hot dog” from a vendor, that turned out to be a 4 bite lunch. It was pretty humorous, but it tasted sooo good because we were really hungry. I think the heat was getting to us 😉

I will now tell you more with some pictures.

_DSC2954  This poem really hit home; it’s beautiful.

_DSC2961

_DSC2973 _DSC2978 _DSC2982

_DSC3021 _DSC3060 _DSC3065 _DSC3070

_DSC3082 _DSC3083

_DSC3111 Yes, I LOVE feeding squirrels. And they loved my potato chips. Ryan was so embarrassed.

_DSC3115 _DSC3119

We can’t wait to go back.

Leave a message by clicking on the heart symbol, to the left, at the top of the post! And tell your friends about this blog so we can spread awareness and help little Lou 🙂