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!

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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.

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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.

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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.

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

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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 🙂

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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 🙂

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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.

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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.

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

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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.

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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.

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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.

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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.

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

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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 🙂

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Washington D.C.

We had the awesome opportunity to get flown to Washington D.C. to visit the National Institute of Health (NIH), where they are studying TTD. Dr. Mendelsohn, the best geneticist ever, hooked us up with the facility at the first notice of confirming the diagnosis. We were set to leave mid-April, however, Lou ended up getting hospitalized two days before we were going to leave. With the help of Debbie Tamura, NIH Research RN, we were fortunate enough to reschedule for this past June. The NIH paid for pretty much everything, and arranged for us to stay at the Children’s Inn, which is a Ronald McDonald-like facility. Our decision to go was completely voluntary, but there was no doubt we would consent. After all, our participation can only help add information (to the limited amount already known) to aid in a cure, and to improve the lives of those diagnosed with TTD.

Our flight to Maryland went just as planned and Lou slept most of the way. Esme was staying with Ryan’s parents in Two Harbors, which I knew she would love, but a part of me felt guilty for not allowing her to take this journey with us. After landing, we waited at the airport for about an hour, until a shuttle came to take us to the Children’s Inn. The weather was hot and a bit muggy, but we were very excited, and too much so, to be bothered by our sticky backs and foreheads. The shuttle ride was about an hour, allowing us to chat with a couple other families who were also heading to the NIH. One sweet older man was by himself, and talked of his recent fight with non-Hodgkins lymphoma. He said “it was luck” that he got accepted into the NIH, and now he is cancer free. They didn’t think he was going to make it so they used a new experimental treatment that worked. We may not meet again, but he was our first NIH friend and I will always remember him.

We arrived at the Inn, but before we were allowed onto the grounds, there was a small building for security checks. We didn’t realize how much security would be involved- there were several officers (with weapons)- who spoke a strict language, and all our belongings went through the conveyor belt screening, like at the airport. We had our pictures taken, forms signed, and were told that if we left and returned, we would go through the same security check, unless we carried a badge. We hoped that we would get badges! It was all a good thing though; the NIH is a very safe place, especially since 9-11.

The staff at the Inn were very welcoming. They gave us our room keys, a welcome folder, and told us that dinner would soon be served; it was “breakfast for dinner” night. We had no idea that we would be prepared meals! We rode the elevator to the second floor and headed down several hallways, passing activity rooms, beautiful artwork, a family room with big screen TV, and a giant kitchen. Our room had two queen beds and a big bathroom. The facility was built in the 90’s (I think) and though a bit outdated, was well maintained. Several other areas were under construction, and a brand new outdoor park was just built.

Volunteers in green shirts were bustling around, preparing pancakes, waffles, fruit, egg bake and beverages, as the three of us peered around for a spot that looked right. There were at least 10 families in the dining room. Each family was with children, some appearing happy and excited to eat, while others struggled to look around, and some looked frail and weak. We were invited to sit by Amanda and 2 year old Jackson, who was in the high chair eating bananas and whipped cream. We got our food and exchanged stories. It was a whole new environment for us; being in a place where all the children were especially unique, and the focus of cutting-edge research. We felt comfortable. We felt humbled. The place was already empowering.

Dear Amanda gave us a tour with Jackson after dinner; they had been to the Inn several times in the past. Downstairs there was an art room, a toddler playing area, a camera that made you look distorted, and a never-ending car ride machine; Esme would have loved that! We toured the different wings of patient rooms, and learned that we had a mailbox, that would be stuffed with toys each day. Volunteers from an array of organizations, served meals most days of the week. We had keys to our designated refrigerator, and had access to a pantry full of breakfast materials, baking goods, and a community refrigerator where leftovers, milk and juice were available for anyone to eat. There were scheduled activities and outings, including a shuttle to the local grocery store- that was wonderful because we didn’t have a car. I took advantage of that the next day. We went to bed early and Monday came quickly.

Our first day at the NIH included an hour registration process of signing consents, getting badges-yay!, and providing all our basic personal information. Then, Debbie Tamura, research RN, took us up several floors to meet Dr. Kenneth Kramer and Dr. DiGiovana. All of us sat in their office, as well as three female medical students. Louie is attracted to females already, and was flirting with them the entire time. He really was- we were all laughing at his winking eyes, and his repeated smile-and-look-away move. They asked us questions about our personal and family history, our skin, my pregnancy, and Lou’s life events thus far. We felt wanted and special. They had been waiting for us, and were so interested in every detail.

Next they gave us an individual skin exam and took a punch biopsy from Ryan and I’s under arm. The tissue will be frozen and thus available for research testing in the years to come. Lou had a biopsy taken months ago, which was sent to the NIH, so thankfully they didn’t need to put him through the same procedure. Ryan and I now share a special scar in the same place.

Then onto Lou’s professional picture session. He was stripped down to his diaper and was photographed at all angles. There was a focus on his hair, hands and feet, which portray features of TTD. Ryan joked that this was Lou’s “Blue Steel” moment (referencing Zoolander movie). The pictures of Louie may be used in future publications and research articles. They agreed to let us know if they use them so we can have a copy, and most importantly bragging rights.

Tuesday morning we again met Debbie in the same hallway at the NIH, and this time headed to a hospital room in the “in-patient” area. A team of two doctors and a medical student awaited us for a special “resting energy expenditure test.” This would help measure Lou’s metabolism, to determine if he is using the same amount of energy/calories, at rest, as a “normal” child his age and weight would use. Kids with TTD typically weigh less and are of shorter stature, leading to question their metabolism requirements. We were skeptical that this would all work out because Louie was awake, happy and ready to play. The test required very little to no movement, while lying under an enclosed clear dome, for at least 30 minutes. So basically what needed to happen, was that Louie needed to sleep for this test to be successful. Ryan took him out of the stroller, the blinds were pulled, only whispers were heard, Lou was brought to a rocking chair in the corner, and was rocked to sleep in Daddy’s arms. Louie was gently placed on the bed and the dome was very slowly placed and maneuvered. An inlet and outlet tube would measure the carbon dioxide and oxygen requirements on a nearby computer, where a formula would convert these quantities to new quantities, then portray and compare metabolic requirements for “normal” and Lou. To our surprise Louie’s metabolism is right where a “normal” child’s would be. This finding is consistent with other TTD children as well. Lou woke up just as the test was ending; it was a successful test and Lou was the youngest TTD child to complete it! The doctors were thrilled and we were proud.

Tuesday also included blood draws from all of us, which I was dreading the most, since poor Lou just wails the whole time, as his tiny veins are hard to find. MANY tubes of blood were taken from each of us, mostly for routine lab tests, and a couple tubes for genetic testing. After two pokes they had the blood they needed from Lou, and I was relieved. The other relieving part was that Ryan made it through his blood draw without the “code” alarm being pulled. Ryan had fainted in the past, during a blood draw elsewhere, resulting in (unnecessary) bells and whistles going off, as would happen if someone is not breathing. It was a funny experience for me, since I knew it was a somewhat common phenomenon, (unlike the lab tech) and we still laugh reflecting on it. But anyway, he made it through this time like a champ.

Our last stop on Tuesday with the Ophthalmologist, Dr. Brian Brooks MD, PhD. What we already know about Louie’s eyes, and so does anyone who looks at him, is that he has congenital nystagmus- a condition in which the eyeball is constantly twitching. He also was prescribed glasses for astigmatism and mild inversion of his right eye. Dr. Brooks has examined many kids with TTD, and he is very seasoned in his profession. He treated Louie with much respect and explained what he was looking for and why. Most kids with TTD have micro cornea/microophthalmia, or basically smaller than “normal” eyes, and he found this to be true with Lou. The main eye-related issue with TTD is cataracts, or clouding of the lens, which is more commonly seen (in the general public) at an older age. There were absolutely no cataracts seen in Louie’s eyes which was a HUGE positive. Cataracts can still develop of course, but the later they develop, if they do, the better. Dr. Brooks agreed with Louie’s prescription, but said that had he not already been prescribed glasses, he would just continue to monitor him since the prescription is so mild. A bittersweet finding since it was such a struggle to get Louie to leave his glasses on, but obviously if he doesn’t need glasses, yay!

And yep, I’m gonna leave ya hanging right here. It’s late and I’m going to bed. Stay tuned for the rest of our trip.

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Welcome!

So I have been wanting to start a blog for too long, and here it is! Please help me along the way blogger friends. I plan on writing in first-person, so from here on out “I” is Mom, Theresa. Thank you so much for the support. Check out the “About” page to learn more about Lou’s journey thus far.

It excites me to think about getting my thoughts out and hopefully connecting with others who share a similar story- the struggles (and triumphs) of raising a child with special needs. Equally important I want to spread awareness about TTD, which understandably, no one has even heard about. As a family, we are learning to embrace the diagnosis; we can’t change it and he was created for a reason. Maybe someday there will be a cure.

Louie is making steady but slow progress in most every way. Our schedule includes PT, OT, speech, doctor appointments with nearly every specialty, working on mobility by doing therapy exercises, occasional daycare when I work as an RN, and of course lots of fun. He most recently started scooting around on his little butt. We continue working towards walking, and he does take several steps when his waist is held and he is shifted along. I am confident that he will someday walk, but it is slow coming. There seems to be some sort of vestibular involvement that isn’t understood, so he is very unsteady and has somewhat jerky movements.

Eating continues to be a challenge. The majority of Lou’s nutrition comes from feedings via g-tube, and the rest by mouth. Getting over a strong gag reflex, and frequent vomiting- without a clear reason, has been ongoing. Speech therapy is helping and I work on this daily, like everything else. He is learning to move the food around in his mouth, and his gag reflex has calmed down. Repetition seems to be key with most of the delays- the more we can work through the actions, the closer we get to the goal of independence. It has also been important to time the feedings around other activities, at least an hour before lots of movement, to avoid vomiting.

Lou’s big sister Esme (EZ-may) is the perfect oldest-child leader, who is now 3 years old, and of course knows what she wants, when she wants it, and how she wants it. She’s an ambitious girl who thrives on new information and loves her little brother no matter how many times she takes his toys. Esme was born at 38 weeks and could be a poster child for childhood development. She has accomplished her milestones ahead of time, for the most part, and is super excited for preschool in the fall. So am I!

Since April 1st of this year I am working on a “casual” basis, which equates to at least 3 shifts a month at a nearby clinic. It is perfect for my life right now. I love having the time to work on Lou’s skills, take him to appointments, and simply watch my babies grow. Being a SAHM is the biggest challenge I’ve faced and it is also the most important. Both Esme and Louie are pros at teaching me patience, love, laughter, joy, and faith.

Being a mother has always been my wish, though I never imagined dealing with my own child having a rare disease. I am honored to be Lou’s mom.

“Life is what happens to you while you’re busy making other plans.” – Allen Saunders

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