Mar
14

It has been a long 30 days leading to this point, and not exactly at the top of my list of times I want to remember. But it is part of his story, and is going to be another thing that sooner or later we can look back on and think, “Wow, that was rough, but we powered through.”

I love photographing my kids and what they are doing… usually that involves smiles and silliness… but this time I really struggled to pick up my camera. I wanted to capture him, as he is now, but as a mother it pains me to know that THIS is what his life is right now. That three times a day, he has to drop what he is doing, and spend an hour or so feeling quite unwell, hooked up to the pump. It is a necessary evil for him to fully recover and I know it could be so much worse, but it doesn’t make it any easier.

After a few weeks involving ER visits, hospital admissions, testing poorly tolerated meds… this is where we are today. It’s not fun, but it is working. Every Wednesday is the visit from the Home Infusion nurse to change the dressing on his PICC, take vitals, and draw labs. He is on two antibiotics, one through the PICC to treat a post-operative bone infection in his knee, and an oral antibiotic to treat a secondary infection due to the first antibiotic wiping out all his normal flora. Assuming everything continues to go relatively well, this could all be behind us in 2-3 weeks. Fingers crossed!

I hate that this is what follows immediately after a chipper awakening… “It’s morning-time, Mommy! Come on! Get up!” He lists off everything he wants for breakfast with a smile on his face, takes his meds, and then is unable to eat because of how it makes him feel.

But despite it all, he still finds a way to smile. ๐Ÿ™‚

This was probably the most difficult picture for me to take because of how much he HATES anyone fiddling with him. The hardest part of the nurse’s visit is changing the dressing on his PICC line and requires a very quick and efficient nurse to work while my husband and I try to keep him restrained and calm. All four of us break a sweat. When that part was done, he sat relatively calm in his daddy’s lap while the nurse drew his labs (quite an improvement from last week!), so I was able to sneak a snap. What a loving daddy my little guy has… seeing the way he is holding him while the nurse does her thing, makes taking this picture completely worth it to me. Connor will look at this when he is older and see that despite how hard it was on him, he was safe and loved every moment along the way.

 

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Mar
12

Obviously, it has been a while since I have written here. I can’t say I can specify why… it has not been a time that lacked in trials, and learning, and experience. Maybe we began to settle into our “normal,” rolling with the punches, taking it all as “another day in the life.” Maybe it was because I was able to find comfort and support and security in the group of other families that live with CIP…. maybe because I still struggle with how much I want to share.

Regardless, I write when I am inspired. Over the past few months, I have thought often about this blog and how much it has been neglected. I have thought about why I started it, whether or not I am committed to it, how much it helped me to work through our experiences by sharing… Do I have the time or the drive to keep it up? After this long of not posting, does it even matter? Clearly, I have decided that it does. (For now.) It is an outlet for me, and an outstretched hand for the person looking for answers or support that might need it. Yes, it’s a small and teeny and very inapplicable topic for most. But if I had found this when I went looking in those early days, I would have found immense comfort in realizing I was notย  alone. And I DID find that- because someone out there opened themselves up and kept up with their little blog.

I can say that most of the last year has been pretty good. Not uneventful, but a huge improvement from the year before. I am really not in the mood to recount all that time now, but I can guarantee it will be referenced in future posts. Maybe I’ll even make a point to share some of those stories. But at this moment, I just needed to take the first step and admit that maybe, just maybe, it is not a bad idea to reunite… Maybe.

Dec
23

Wow. It’s already been 3 months? My, how time flies. I knew it had been some time since I updated, but boy was I surprised it had been a full 3 months!

I am happy to say that not a whole lot has happened since last I checked in. And that, my friends, is always good news. ๐Ÿ™‚ I have a little bit to share about his case being presented as the “Challenging Case” for Grand Rounds at OHSU, the gluten free diet, and his recent trip to the orthopedist for some ankle swelling, but it is pretty much all positive!

In November, Connor case- beginning pretty much from the first incident regarding our concerns for his arm when he was 6 months old… all the way up to darn near the last update I shared via email with his pediatrician just a week or two before the symposium- was presented to a room full of medical professionals of all areas of specialty. There were 5 presenters, all individuals that had played a role in the acute and ongoing treatment/investigation into Connor’s condition and injuries. We were not permitted to attend, but we were provided with a link to watch the recording. It was… an emotional rollercoaster, to say the least. It was hard to see the faces of some of those individuals even after a year. It was hard to listen to some of them patting their own backs about Connor being diagnosed, like they knew all along, when NOT ONE of them listened, or helped, when Connor was in their care.ย  They left out a lot of important things, too, but overall we are just glad that everyone that walked out of that room afterward brought with them just a little more knowledge about kids like Connor and how they may present. I must add… we were very happy with our pediatrician. He really has done his research and stands by every request and decision we make regarding Connor’s care.

So that was that.

The gluten free diet is still working wonders. Connor has gained about 12 lbs since we put him on it 4 months ago. Most of that happened relatively quickly and it appears now his body is all caught up for lost time/nutrition and weight gain has leveled out to normal. We are due to recheck his bloodwork for his anemia and vitamin deficiencies and I am REALLY looking forward to seeing positive change. We have had NO problem adapting… even through birthday parties, Halloween, Thanksgiving, and upcoming Christmas. There are just so many options out there for celiacs, we have no interest in changing a thing. ๐Ÿ™‚

Connor has been biting a little bit here and there. It is random, and sometimes worse than others, but we have noticed that now when he bites his lips/tongue, he does a pretty good job leaving it alone so he isn’t getting the massive, repetitive injuries he used to do to himself. He heals pretty quickly now, too. He went through a teething phase the last week or two and did quite a bit of hand/finger/arm biting. You know how kids are when they are teething… he just gets carried away because he doesn’t know when to stop.ย  We just have to keep him distracted with plenty of “safe” things to chew on, because wow… he can really tear himself up if left unchecked.

We did notice some new swelling on his left ankle last weekend… that is the same one that has given us all the trouble in the past. So we took him in. It is soooo hard to tell with that ankle because all the excess callous formation from the previous fractures has that heel/ankle looking quite a bit odd and misshapen as it is. But as far as they can tell, there aren’t any new fractures and it may just be soft tissue damage from twisting it or something- common for kids his age, let alone that he can’t tell when he hurts it. [I just realized… if the swelling is indeed not due to a microfracture, that means Connor has gone since June without any new fractures. That is 6 months and a possibly a lifetime record for him! YAY, Connor!!!!!!] The orthopedist said that the callous is breaking down-which is more great news- and that he was shocked at how incredible Connor looks. He hadn’t seen him since before we started the GF diet and when hubby told him that we put him on it, he was pretty floored at what a positive impact it has had on him. ๐Ÿ™‚ (But we already knew that. Hahaha!)

In other news, Connor’s vocabulary and sentence structure… overall communication.. is SOARING! He knows several of his letters and numbers and is putting together 4 and 5 word sentences. He can count to three (and understand what/how many those numbers mean), tries to sing his ABC’s with his big sister, and knows all his animals/animal sounds. He’s got a STRONG attachment to Panda Bears, Lightning McQueen, and oddly… owls. lolย  He continues to be the funniest, goofiest little ham I have ever met and just oozes with affection andย  personality. We are seriously, the luckiest people on earth to have a little guy like him in our lives! I can’t believe he will be TWO in just two short months!

I guess that is about it. I’ll post again after we get the bloodwork done. I anticipate sharing more good news!

Sep
22

I think I forgot to mention how our last Physical Therapy appointment went… Would you be surprised to hear there is nothing we can do!? ๐Ÿ™‚ HA! At least we try.

We noticed Connor is a bit pigeon-toed… I am SURE I have mentioned that somewhere along the line because that is why we think he was fracturing his ankle and lower leg bones so often. He would just roll right over his feet with total disregard for what direction they were facing. I am happy to announce that the more control he has over himself (which gets REALLY interesting when he starts dancing, lol! I’m gonna have to add a video here one of these days…) the better he does. He has gone a few months without any sprain or fracture or anything that we have noticed! 3 months or so! That is awesome!!

Anywho…. so the physical therapist said that he has some tibial and femoral torsion. Both, apparently- each affecting each leg a little differently. Seems his right leg is more femoral, and his left more tibial. What’s torsion? Well, it’s a twisting of the long bones and is pretty darn common among children. They almost always outgrow it, unless it is severe. The physical therapist said they used to use bars, and splints, and braces until they realized the children that were treated overcame it just as fast as the children that weren’t. Funny, because my husband was born with a pretty crooked leg and he would tear off that brace every chance he got as a child. His leg is fine today. Maybe a bit hairy……

So the tibial torsion seems to be most prevalent on his left leg and that is the one that gets all the ankle fractures and such. The right leg seems to be predominantly affected by the femoral torsion, and that is most obvious when he is sitting.ย  The other day, Connor was sitting down for 5 seconds (write that down in the history books!!!) and my husband said, “Take a picture of Connor.” Uh… I am a photographer. When I hear that out of nowhere, I will do a nose-dive toward my camera, start snapping, and ask questions later. So what was the occasion? Because he’s not running around like a banshee child?

Oh.

Isn’t that crazy looking? This is his normal, relaxed sitting position. Don’t worry…. as weird as it looks, nothing is out of place, nothing is broken… it is just something that he should outgrow. In posts past, I mention Kinesio tape. His sensory therapist suggested it because a) Connor can not have any rigid support system or he could hurt himself worse, and b)…. I am sure there was a “b”….

I mentioned this to the physical therapist and because she knows all about this torsion thing, she did not expect kinesio tape to help any. I DID, however, learn something neat about kinesio taping and the next time I hurt my muscles, I am ALL over it. But this is a bone thing. And although we did try taping his ankles, he ripped it off in less than 12 hours.

All we have on our side right now… as per usual, is time. And one thing with Connor is that time moves MUCH MUCH MUCH slower. Seems we are always waiting for something. But in the meantime, he will just keep making me laugh, give me the BIGGEST sense of pride as a mother, get cuter and cuter, and keep me happily on my toes. ๐Ÿ™‚

Sep
17

I just got a voicemail from the Shriner’s Skeletal Dysplasia Clinic about Connor’s test results. I called last week and they didn’t fill me in on the rest other than they were “um… [pause]…relatively normal” (which, in our experience, typically means there are some things that may be out of whack, but they don’t really know why so they overlook them. I’ll know more when they actually GIVE them to us). But this time they were calling to tell us another result came in for one particular test that was “very high”, indicating high bone turnover. Their conclusion?

“Probably related to his condition.”

Why am I not surprised!? They can’t be bothered to consider the fact that this test is a marker for osteoporosis- bone loss, overall weakening of bone structure, vitamin deficiencies that compromise mineralization and bone density, etc. So we present with a child that is fracturing more frequently than he should be… even for a child with CIP… but instead of considering there is an underlying cause for the fractures aside from his inability to feel pain, they assume it is because he is frequently fracturing that he has a high bone turnover rate.

So what came first… the chicken or the egg? Well, I guess only time will tell since they have absolutely no recommendations for treatment.

Let’s revisit Connor’s vitamin deficiencies and the symptoms of Celiac… Know what they can cause? Osteoporosis. So, again, in the face of docs that are consistently content to dismiss, we will be continuing with the gluten-free diet and supplementation (as if there was ever any question, anyway! hehehe) and will watch to see if Connor’s fracture rate decreases.

Really, why do we even bother going to these docs? LOL! I think my husband and I deserve honorary degrees in neurology, orthopedics, metabolics, nutrition, and gastroenterology… Or at least a PhD in Connorology. ๐Ÿ™‚

Sep
16

I know an amazing little boy.

Well, I haven’t actually ever been blessed enough to meet him in person, but I met his mother through an online pregnancy/parenting forum and because he and my daughter are the same age, I have had the honor of following his journey from before he was born. I’ve chuckled at his antics, “ooh”ed and “ahh”ed over the sheer adorableness of his pictures, wept over his struggles, and cheered with his victories.

I know a little boy named Dakin. And he is a Superman with SMARD.

Photo Credit: The Littlest Heroes Project. Used with permission by The Daily Dakin

Dakin is almost three, and has Spinal Muscular Atrophy with Respiratory Distress.ย  It is a very rare, and little understood genetic disorder that progressively destroys the cells that control motor function, such as breathing and speaking. Because it is a motor neuron disease, there is no cure and treatment is limited to maintaining quality of life via breathing treatments, suctioning, 24/7 ventilation, a gambit of therapies, and great care to prevent illness. Dakin can not sit up by himself, will never run, jump, or smear peanut butter all over the TV (unless you got him close enough… I bet he would try!) ๐Ÿ™‚ย  But he has a powerful mind, witty sense of humor, and an unmatched joy and wonderment for every moment in life that will melt the hearts of every soul that has the pleasure of “meeting” him, if only through his blog, here.

It is no wonder he is such a happy little guy… He has, undeniably, one of the strongest, most dedicated, and loving support systems anyone could hope for. His mommy and daddy have- and will continue- to walk to the ends of the earth to embrace the positive and shower him with love, all the while raising awareness and vigorously advocating for him and others affected by this family of disorders. There are research groups that are working very hard to understand SMA/SMARD and advances are being made. One such group, is the Gwendolyn Strong Foundation, and they are in the running for a $20,000 research grant for SMA.

How can you help, you ask? It is as easy as a click, every day until the 29th. Go to www.voteforSMA.com and vote for the Gwendolyn Strong Foundation. And if you have a blog or other networking site, even email… Share this post, Dakin’s blog, or just about the virtual “party” to raise awareness and support researchย  for Dakin and other superheroes affected by these conditions.

Thank you!!!

Sep
12

Four weeks gluten-free and the benefits are undeniable.

As I mentioned a couple posts back, four weeks ago we had Connor tested for Celiac disease due to his chronic vitamin deficiencies and tendency to fracture easily. His blood tests came back normal. Knowing that the blood tests are notoriously inaccurate and that the only way to either officially rule out (or diagnose) the disease was by doing an intestinal biopsy (no, thanks!), we decided we would put him on the diet anyway and let it speak for itself. We never anticipated what an easy transition it would be, nor did we realize how much of a change we would see in such a short period of time. Even in four short weeks, we have seen far more improvements than we ever could have hoped for.

I have talked about this before, but on a basic level, Celiac disease can cause damage to the villi in the intestinal lining. The purpose of villi is to slow the passage of food, and to allow food particles to get trapped among the finger-like villi so the blood inside them have an opportunity to properly absorb the nutrients in the food.

Normal Intestinal Lining/Villi

If these villi are damaged… or even missing… due to the body attacking itself as a reaction to gluten, the lining is smooth and food is not digested properly, critical vitamins and minerals are not absorbed, and the body starts to suffer in a variety of ways. The symptoms vary from person to person, and can range from darn near life-threatening, to a general feeling of malaise.

Celiac Intestinal Lining

As a self-professed bread-a-holic, with two sandwich and toast-a-holic children, I thought it would be a tough transition. We love our spaghetti, mac and cheese, dinner rolls, breaded chicken nuggets… I thought all of that would have to go away. Boy was I surprised! We enjoy spaghetti and mac and cheese… just with brown rice noodles, instead. Frozen quick-fix nuggets have been replaced with THE best homemade recipe I have EVER tasted. I now make my own pizza crust, and sandwiches have just been replaced with plates of cheese, meat, fruit, veggies, and rice crackers. With a little more attention to ingredient labels, we have been cruising along just as usual and enjoying many of the same things and more. But that wasn’t even the biggest surprise…

Connor has been doing AMAZING! When we started this, we were just hoping it would help resolve his vitamin deficiencies and chronic anemia. While we will be waiting a couple more months to recheck his bloodwork, of all the changes we have seen, we didn’t even realize many of them were a “problem” until they resolved. Day one of the diet change: He was covered in bruises… he could brush up against something and get one. He was relatively pale and was having bowl movements several times a day and at risk of grossing you out, they were extra smelly, slimy, liquid, and often it looked like you just poured his dinner in his diaper and skipped eating it all together. He had a bloated belly, and although his eyes seemed well-lubricated, he rarely had tears in his eyes when he cried.

Four weeks later and almost all the bruises are gone, his skin has more color to it, he fills his diaper only twice a day and it is NORMAL , his belly is flat, and if the little guy gets upset, his eyes water and tear like they should! Not only that, but although he always seemed to be a happy and energetic boy, he has gotten even more energy and is REALLY happy! His whole demeanor has changed for the better and it is obvious to anyone that knows him… Connor is feeling GOOD!

Speaking of feeling…. there is more. I am going to have to preface this with another little science lesson. ๐Ÿ™‚ I know Connor’s condition can be confusing- even to me- and I believe I have tried to explain it before, but I’m going to try again as I am learning more and more each day. I think it will also help put into perspective the other little bonus we are finding with the gluten-free diet!

Connor’s nerve pathways are expected to be formed normally and intact, although we have not yet done a biopsy to confirm. He feels discomfort internally (screamed from an ear infection and reflux as an infant, is uncomfortable when he has gas or tummy troubles), but not peripheral pain (the surface, or outer part of the body, or organ… bones, muscles, skin, etc). His pain insensitivity is believed to be due to a mutation in a gene that codes for a specific sodium channel (named Nav1.7). It is exactly what it sounds like… a channel, or “hallway” of sorts with a special door that only opens to the secret knock. Sodium channels are made by proteins in the membrane of the cell. The proteins are shaped in a way that form a channel that conducts charged ions through the outer membrane of the cell. Basically, a gateway in which signals are allowed to pass from one side to the other.

There are different things that tell these channels to either open or close, depending on their purpose. In the case of pain sensation, these doorways are located near the ends of pain sensory nerves.ย  When the body(cells) receive painful stimuli, they produce small changes in voltage (the secret knock), and it is the job of the Nav1.7 channel to amplify these signals, open the door, and send them on their way via the nerve pathways to the brain. Proper levels of these signals are what triggers the neurons to fire so you “feel” the pain. Any changes in the coding for that gene can cause the protein to be misshapen or function improperly. Although there a few mutations that can happen and affect various parts of the protein, I’ll simplify it in terms of a “door.” Think of it this way… there was either a page missing or a typo in the instructions on how to make these channels, so even though “pain” comes a knocking, the door doesn’t open the way it is supposed to. In Connor’s case, it stays closed, or doesn’t open all the way so the proper level of signals aren’t even getting out. In the case of people with some types of chronic pain disorders, their door doesn’t close when it is supposed to so WAY more signals are sent than should, so they feel far more pain than they should.

We think Connor’s “door” might be cracking open a teeny tiny teeny teeny teeny bit. Like maybe 1% of these signals are making it through, but not enough that he is getting the message. In the past, we have noticed that if he falls and bonks his head hard enough, and I mean HARD, he will rub at it. But that’s it. SOMETHING might be getting through, but not enough for him to realize it is bad. So here is where it gets interesting…

Celiac disease can cause neuropathy, which pretty much means it hinders the ability of one’s nerve pathways to transmit messages from one place to another… So if Connor is getting a few of those signals out the door, but once they are out, the paving on the road is cracked and sludgy, then even less of them are going to make it where they need to go. A couple days ago, Connor tripped and fell, hitting his ear on the edge of a table. He not only batted at it, but he had a GRIMACE on his face. He FELT it! Granted, had it been anyone else in the family, we would have been screaming bloody murder- his whole ear got really puffy and swollen and red/blue… I was afraid he severely injured it… but that was the closest thing to “pain” we have ever seen him do! So although a gluten-free diet will never change his insensitivity to pain, it may be improving his nerves’ ability to transmit what little signals he may be getting. Hey… We’ll take anything we can get!

If he feels something… even if it is just a little tingling or throbbing or something that gives him even the tiniest amount of a clue, that will give us a HUGE one-up on being able to teach him how to know when he has suffered injury. We really look forward to him getting a little older and being able to communicate what he is feeling. The researches in Florida, while they are interested in seeing him, require him to be able to do just that in order to fully evaluate his condition so we will not be going for a few more years. Someday, we may know exactly what mutation(s) he has and exactly how he is affected by it. Who knows…. maybe some day they will even find a way to repair it.

For now, I feel like things are going 900% better than they were this time last year. Connor is doing great and every day is another opportunity to learn more about him and teach him more about himself. We are so happy this diet is having such a positive affect on him and look forward seeing and sharing more good things!

ETA: I think it is worth mentioning that there were times in the beginning that I thought, “His blood tests were normal… maybe it’s not even a problem… It would be so much easier to give him a piece of toast for a snack or make a sandwich… maybe he can just eat it sometimes…” It is clearly worth the effort and the dedication is has taken to make the change. I went into this expecting things to stay the same and had we taken the blood test at face value and not given it our all, he would not be doing so much better now. Just goes to show (again) that you have to do what you have to do and never overlook ANYTHING for the sake of your little ones. Thank you so much to “L” for suggesting this to us. Yay for another victory in the fight!

Aug
27

I’m a week late, but I tried to write a post like this when Connor turned One, so this is actually pretty good. ๐Ÿ™‚ย  It is hard to reflect on the the time gone by as it has been quite the roller-coaster. I think one year was too close to the thick of it as I couldn’t write without breaking into tears at the frustration. But now, although I am still extremely emotional and sentimental about it all, things have evened out. There is still a lot going on, but the direction has changed (I think.).

Sure, 18 months isn’t a long time. It’s considered a “milestone” of sorts in our little people’s development but after a few short years, halves don’t really matter as much. But now is now. And now Connor is three half years. 18 months. 547 days… 13, 128 hours (to be inexact). Sometimes, when he is biting himself, we even count the minutes.

Connor came into this world stubborn, fast, and furious, and has followed suit ever since. Once he was out, he was out to tackle the world. But in between his adventures, ask anyone who has been blessed to hold him in their arms and they will tell you- he will give you the BEST hug you would be blessed to have. He just melts into you, arms around your neck, heart to heart… it is amazing. I’m not just saying that as a proud mom. He has that effect on people.

The last 18 months have been quite the journey. Sleepless nights, laughing, crying… questions, and even some answers. As hard as it’s been, each challenge has been matched with joy. And no matter the struggles, I wouldn’t change it for the world. Running, jumping… fighting with his big sister… Still cuddles like a newborn, but demands independence. One of his favorite games is- right before he throws a ball (or toy… or rock… or his lunch),ย  he exclaims… “GO!”ย  Then he throws it, squeals with delight, chases, retrieves, then does it again. Repeat. Repeat…ย  His second favorite game is tricking me into thinking he wants something and the minute I turn my back for one second… Not even one minute… I might as well blink… and he attempts the world’s most dangerous circus trick off of a piece of furniture. I can not count the number of times I have literally caught him mid-air, diving head first off the end-table, couch, chair… He knows I’m onto him, too. Very clever little guy, always a watchful eye for “Mommy, the Buzz Kill.”

Connor doesn’t just walk, he struts. Or strides to his internal beat. The kid dances as he steps… If he is really excited, he can put any “So You Think You Can Dance” contestant to shame. The boy LOVES to groove and never requires music to get down. Let me tell you, it is the kind of energy that makes you smile inside and out to watch. Such spirit… So much personality… It’s contagious.

As much as I fear for his teenage years, I am so excited to see what he will become and where he will go in life. Connor is such a smart little guy, but his wild side…. ugh. With myself and my husband as parents, he will have the HARDEST head, take NOTHING as word, and challenge EVERYTHING. Good!? Bad?

He is going through his “You can’t get me to look at the camera, no matter the level of bribery” phase. If I tempt him with something fantastic, but the camera is in hand, he will turn the other way. Put the camera away and he is crawling all over me, begging for “num nums.”

So I don’t have much to offer in the way of pics. But I think it is still worth sharing what I have. I promised.

I love him. He and his sister are my whole world and watching them grow and develop is the greatest honor I could ever have. Happy 18 months, BuhBuh. We love you.

(I told you I was sentimental…)

Aug
20

It is good to know that despite the twisting in our stomachs, the feeling of preparing medical history for an evidential hearing, and the home cleaning spree “just in case” we don’t get to come home… despite all that every time we take Connor to another doctor appointment, it appears we have finally moved past the crooked glances and into the realm of medical attention. Or at least medical “consideration.” Of course, it still isn’t everything we wish it was, but it is what it is and that’s better than what it was.

The problem with having a little understood “main” condition, such as CIP, is that the inexperienced are quick to explain everything else as being a direct result. That may be the case. But unless they are specialists in said disorder, our concerns are not something we are quick to dismiss without being sure every possible avenue has been explored. It was our concerns that we had to fight to get recognized and diagnosed in the first place, and we would be doing him a disservice if we didn’t do the same for every other concern that arises.

Today was a “big one” for us. We have been waiting to meet with a relatively renowned metabolic specialist and his team (included Genetics and Orthopedics) for several months now, to see if we could identify any reason Connor has these ongoing vitamin deficiencies and anemia, not to mention a relatively high rate of fracture. Even though most of the recent ones are small, because of the way his body heals even the most micro fracture will cause a large growth of bone. And since most are in his feet and ankles, it is getting darn difficult to find shoes that fit because his feet/heels/ankles are getting so big and lumpy. We had some blood drawn recently that indicated he is still anemic/iron deficient (despite months and months of supplementation), and his Vitamin D dropped a HUGE amount. No matter how much we give him, he can’t seem to hang onto it. Seems worth looking into to me…

After much discussion, the specialist was happy to send us on our way and said that everything was probably just because of the CIP. Over the past several months, we have heard (more times than I can count) that “children that don’t feel pain do not have any more fractures than people that can.” I am not sure where they get that information (or whether or not is correct) but when faced with Connor’s case, they still immediately point to CIP as the culprit without question. OH! He also suggested maybe the other families weren’t catching the injuries as often as we do. Yeah… try telling that to a room full of parents to children like Connor and see what happens! We check our kids head to toe a bazillion times a day.

Well, nice try, but that’s not going to fly. Appointments can take up to a year to get and they had not even reviewed the last 7 months worth of Connor’s blood tests and xrays so no way were we going to walk out of that office without any forward motion. I requested they at least do a panel of blood tests designed to look at overall bone health, and he agreed. If it is normal, well, okay then! Thank you… that is fantastic news, and we know for sure. But how can you know if you don’t look!? And how can you decide it’s not worth looking into when you haven’t reviewed a stitch of medical history since 7 months ago!

The results may take up to two weeks,ย  but I am happy to take a deep breath and patiently wait. I feel like something was accomplished and I am reasonably satisfied that we may have a better picture as to what is (or isn’t) going on when it is said and done, even if it just was what it was.

On a lighter note, I received some GREAT news today that may make a giant leap in our journey to identifying the specific gene responsible for Connor’s insensitivity to pain. That Florida research group I mentioned in my last post? My mother offered to send us there!!! So if they are still interested in adding him to their study, we will be on the plane! Woo hoo! I know it may seem like such a little thing, knowing which gene is the culprit, but having the “why” behind the “now” and being a part of something bigger that can aide in research and maybe even treatment down the road would be just awesome.ย  Here is a link to a press article recently published about their work.

Other than all that, Connor continues to be doing well! He has been on the gluten-free diet for almost a week and so far, so good. No biting for a month (aside from his hand a couple times, but NO BLOOD!)… We can hardly believe it! Sleep has been on the upswing this last week (fingers crossed). These days it seems we are just doing the typical, “I have a very active boy” damage control.ย  I still haven’t taken the 18 month pics, but I hope to do it soon. When I do, I’ll do a post JUST about his cuteness. ๐Ÿ™‚

Aug
06

“00000000000000000000000000000000000000000000000000000000” (Connor snuck up when I wasn’t looking and typed that. Guess he wanted to say hi!)

It has been a while since I posted, mostly because there is nothing new to report! Connor has been going through another good spell (but don’t tell him that, every time I say that out loud, he starts biting again. hehe). Aside from reverting back to his HORRIBLE sleep habits, he is just being a normal, stubborn, active, and sweet little 17 month old. Sure, he bonks, crashes, and scratches without batting an eye, and he had quite the cheek chewing session a couple weeks ago, but it healed well. I noticed some new ulcers from light biting on the inside of his cheeks the other day, but nothing serious that we know of!

There are a few diagnostic things we have in the works. WOW, that group I joined has been an ENORMOUS resource! I am learning so much about research, behavioral issues, sleep, supplements, blood tests, you name it. I feel so much more on top of what is happening with him and far better equipped to take our proactive stance to the next level. It helps to know what to look for!!

First of all, we were told about a research group at the University of Florida that is working to identify and learn more about patients with an SCN9A mutation that causes Congenital Indifference to Pain. Because our geneticists were unable to get the testing in Holland approved (BUMMER!), I told them about it and they contacted the lead researcher at UF to see if their resources could benefit us. Why is it that all the specialists are on the opposite side of the country!? They said they would like to see him, but we are awaiting news as to whether or not they would pay for travel expenses. I doubt it… which means, we will probably not be able to go. Hopefully something can be worked out where we can have him drawn here and send the blood for genetic testing, at least.

We got a referral for an ophthalmologist to be sure Connor has not damaged his eyes at all and to verify he is producing enough tears to keep them protected. He went a few days rubbing his eyes vigorously and I even caught him with his finger in his eye, so it is certainly something that needs to be evaluated.

Our appointment at Shriner’s Skeletal Dysplasia clinic is scheduled for the 20th. We have been looking forward to this for MONTHS hoping to find some answer to why he is so prone to fracture, aside from his inability to feel pain. As I have mentioned many many times before, it is just odd that he gets them so frequently. Most are just little ones that don’t require special treatment, but still….why? Why so many? Of all the children I have learned about from the new forum, Connor appears to get them more than any other.

Which leads me to his Physical Therapy. We haven’t been to his therapist in several months as the last time we were there, he had just gotten his cast removed and was in the process of trying to learn to walk again. It was too early to really identify where his problem areas were, but now that he is running, jumping, climbing, dancing… and in light of all the ankle fractures, it is quite clear where they are now! Apparently they schedule quite a way out, so we have to wait until Sept 7th to get him evaluated and see if there are things we can do to help support his joints- mainly ankles and feet- to minimize the number of injuries/fractures. We have been working with him to learn how to watch his feet so he doesn’t just dive off of steps and such, but hopefully the physical therapist will have some great ideas.

Blood tests… We are getting him drawn this weekend to follow-up on his deficiencies, and see how he is doing in overall health. You may remember, Connor is chronically anemic. Although his hemoglobin went up a touch with heavy supplementation for a few months, his serum iron level actually dropped. His vitamin D levels were normal after about a month of supplementation, but now that he hasn’t been taking them for a while and relies on milk and other food sources, it will be interesting to see if he has managed toย  maintain his levels. Connor’s pediatrician also approved performing a celiac panel per my request and his support based on Connor’s “side” symptoms.

I never thought about celiac disease being a problem. Quite honestly, I just didn’t know much about it. But since I have joined the Gift of Pain community, I have learned that many of the children have been diagnosed, tested, or are at least on a gluten-free diet and the benefits are amazing. It has been linked to several other disorders and the more docs learn about it, the more they realize that more people may be affected than they thought. If a person has a gluten allergy or insensitivity, the little villi in the intestine are destroyed, preventing the body from properly absorbing nutrients. It would explain Connor’s deficiencies, GI issues, sleep problems, and maybe even the fractures! The symptoms are quite varied from person to person (some don’t have any noticeable symptoms) and the test has a high rate of false negative, but once he is drawn, we will be putting him on a gluten-free diet anyway to see what happens.

Other than that, he has been doing great. He is such aย  momma’s boy. I love it. ๐Ÿ™‚ His vocabulary is soaring, he plays in the pool every chance we get, and my…. I think he may be a contender for So You Think You Can Dance someday! That boy LOVES to get down and boogy! I don’t have a pic right now to share, but I will be doing his 18 month session in a week or so, so there will plenty to share then. ๐Ÿ™‚