No Longer Alone

When I say “alone,” I don’t mean that we had no one. We have an enormous amount of support from friends and family without whom we would not be where we are today. Gosh, I hate to imagine what condition our family would be in without you all. (Whatever family would have been left…) Everyone has been, and continues to be, such a HUGE help to our family. Just knowing there are people out there that care about us and keep Connor in their thoughts is a true gift. We are very fortunate.

Now, it has gotten even better!

Some time last week, I had reached my wit’s end. From the time Connor was very young- just a couple months old- I had begun scouring the web for information about children and adults that do not feel pain. Based on what I found, I had pretty much come up with my own diagnosis- Congenital Indifference to Pain. Throughout everything we went through, I continued to search… and search… and search… Even after Connor was diagnosed, I spent hours upon hours looking for others- blogs, websites, community support groups… anything! All to no avail. I knew we weren’t the only ones, but we might as well have been. There was NO community that I could find. So, last week, I decided I would just have to start my own. True to form- VIOLA! I find others.

I am so excited to share that I have finally found a community group that consists of other families affected by pain sensory disorders. And to think all the while, it was right under my nose…. Facebook. (I knew there was a reason I joined!) It is a closed group, so I waited several painstaking days to gain access. I checked every day- multiple times a day- knowing there was this amazing resource at my fingertips and today, I was finally able to open that  door.

The minute I clicked on the page and could see the conversations, names, and photographs of other families in our shoes, I was so overjoyed I just started crying. (Ah, shucks, I am doing it now, too.) I can’t describe the feeling. And when I saw there was even a simple “welcome” message introducing me to the group, I felt like I had finally arrived. I found it… the place I had been looking for all this time. Next thing I know, people are welcoming me, sending friend requests, and I even had a FANTASTIC chat with a woman that put herself out there to share her experiences, listen to mine, and offer insight.

Wow.

And so, my friends, (including my new ones!!!!) thank you. Thank you so much for all that you are and all that you give. I want so badly to give back and I am sorry if it seems like I am taking a lot right now. But I promise it will come full circle and I will give every single ounce of myself to return the favor. I will never ever forget your generosity, support, and kind words.

I am so happy to add a new “family” to our journey and to have the opportunity to be a supporting part of others!

The Ups

I have mentioned before what a rollercoaster Congenital Indifference to Pain can be and how deceptive it is when things are going well. You get so wrapped up in the normalcy, it isn’t hard to forget that it is always there… just waiting to spring back up on you and turns your ups into downs in a blink of an eye. BUT  (and that is a BIG “but”), that does not discount how absolutely WONDERFUL the ups are!

We have been happily riding the “ups” ever since Connor’s last major biting session. It has been incredible! His tongue and cheek are looking fantastic… still healing even 3 weeks later, but he hasn’t had a bite, break, or big bruise the whole time! It is like he had some kind of cognitive leap and understands what we mean when we say no biting. When we tell him not to do something, he knows what it means. We tell him not to bite his hands and fingers, and he takes them out of his mouth. Even when we ask , “Connor, are you biting?” he will stick out his tongue in a gesture that appears to be him showing us that he is not.

He has been sleeping through the night again (after about a 2 month break of revisiting his HORRIBLE sleep patterns), napping relatively well- the only nuances being perfectly normal for his age. Oh! And in case I didn’t mention it before, he is allowing us to feed him with a spoon! This is big, folks. Ever since his admission to the children’s hospital for a week when he was 9.5 months old, he has straight-up refused to allow anything or anyone near his mouth. He underwent so much unnecessary poking, prodding, and procedures, he would not eat ANYTHING he couldn’t pick up with his fingers and feed himself. Given his age, that was a bad thing as he wouldn’t eat much more than cheerios and toast, refused formula, and pretty much tried to sustain himself by nursing. In turn, he lost quite a bit of weight and it has only been in the last few months that he has really turned around and packed on the pounds. Now, 7 months after his admission, he allows us to feed him, is experimenting with feeding himself, and is rocking the 85th percentile for weight! He is still unsure about it all, but it is a breakthrough, for certain!

We have just been on cloud nine having what feels like a normal, medically uneventful, family again! Every day that passes without incident feels like a major accomplishment and we have even been allowing him to explore his crazy, boyish inclinations a bit more.

It is important for us to allow him to be as normal as he can, and learn his limitations in a safe, supervised way. Even with Congenital Indifference to Pain, he has to be allowed to develop as any other child… just with far more caution. The biggest thing we have found recently is getting him to become aware of his feet and ankles. With all of his toddler antics- running,  jumping, stepping off a curb or going down steps- they appear to be getting the brunt of the burden as they are just an afterthought to him. If he doesn’t step or land right, or twists his ankle while running, it means nothing to him.

We have talked with his sensory therapist and hope to work in conjunction with the Physical Therapist to find ways we can bring attention to his feet. Some ideas that have been brought-up are small weights that attach to his shoes, and/or kinesio tape to provide flexible support to his lower joints. In the meantime, we tackle stairs and steps in a slow, deliberate way. “Stop, look at your feet, now step… Good job!” Sometimes he just tries to slide or dive right off, never taking a second glance at where he is going, but if we make him aware of it, he does great. Eventually, he will learn to look out for things and think before he steps.

So, I guess that is about it for now! I LOVE that I have good news to share. It seems this blog is chock-full of negative, but I wanted to make sure everyone knows it is not all bad, all the time. Thank goodness for ups to balance the downs! Yay!!! 🙂

The A-Ha Moment

A running “joke” (if you want to call it that) in our family is that everyone has their “A-Ha” moment when it comes to Connor’s condition. Until then, everyone “knows” what is going on. They all try their hardest to wrap their minds around it, understand the severity of it, and obviously share concern for the things that happen to Connor because of it. But no one completely “gets” it… feels it in their soul… until they see it. Many know he runs around with broken bones, but still… even that doesn’t slap you in the face like witnessing first-hand the damage he causes himself.

Yesterday we took him to the Children’s hospital to evaluate whether or not the oral damage he has recently inflicted on himself was infected. They said it was pretty severely infected and prescribed antibiotics. We followed-up with his dentist today to see if there is anything we can do to curb the frequency of these injuries, encourage healing, and of course, minimize how often he does it. Unfortunately, we were also there to discuss whether or not Connor needs to have his teeth pulled.

Our dentist has seen Connor before… he had his bottom two teeth filed down a little when he was 11 months old or so. (Maybe later. I can’t recall off the top of my head). It was our first meeting and although the dentist was aware of Connor’s condition and had been consulted prior to taking our case, he had not had much of an opportunity to do any research. I was a little concerned after that appointment that he may not be the dentist for us. But today, it was clear he had done some work to get a better understanding of Congenital Indifference to Pain and the unique complications that can arise in term of oral health.

We spent quite some time talking about treatment options, the whole “to pull or not to pull” dilemma, and other such things. He was very supportive of researching alternatives and made a commitment to speak with some other specialists in the area. Then he looked in Connor’s mouth. I must preface this by saying, this dentist works with kids so he has a very chipper, kind demeanor. After spending a couple minutes getting a good look, he changed. He went darn near white, became quite serious, and it appeared he was fighting back tears while maintaining a very professional attitude.

He had just had his A-Ha moment.

He said that Connor’s mouth is not infected. All the the white, and purple and swollen/lumpy tissue was from trauma alone and the healing tissue. The damage to Connor’s mouth was quite severe and if not allowed an opportunity to heal, would not take much more before causing permanent damage and loss of tissue. He talked about how despite all of the things we had discussed, with this kind of damage, pulling a couple teeth would be a minuscule sacrifice to preserve his oral health.  Connor doesn’t have to have all of them pulled, just the affected areas. Because he still has another 6-8 months before all of his side teeth come in, effectively giving his tongue a nice, neat, natural resting place, it will continue to be subject to damage from the existing teeth. We are not worried about the front of his tongue… because he has those 8 front teeth are fully in place, that area of his tongue is in great shape- a little bit of minor spots, but nothing to worry about.

It is not the news we wanted, but it is better than we thought. Like I said, he is not going to be completely toothless. We may have to go back and pull more of those teeth as they come in if the same type of scenario happens again. He will likely need orthodontics when he is a teen as those permanent side teeth do not come in until 10-12 years of age and there will be no existing baby teeth to help them grow in properly. But, again, a minor set-back considering what he is currently doing to his mouth.

Until now, Ken and I have been at odds about pulling teeth. He wants to wait, I think we need to do it before Connor loses part of his tongue or cheek. I suppose the dentist’s recommendation is a good compromise. It is not something a parent ever ever wants their little person to go through, but if we just treat this as an “as needed” solution, maybe by the time the other teeth start coming in, he will have even more cognition of what we are trying to teach him. In addition, because the majority of the damage occurs in his sleep, we can not completely rely on our efforts to help him learn. Besides… the dentist brought up a good point. Imagine the challenge of  teaching someone tongue placement. If someone told you to always keep your tongue to the right, for example…could you?

The Plot Thickens

Right on the tail of my last post about the confusing nature of Connor’s case, there have been some new developments.  Or at least, new curiosities…

We noticed that Connor’s left ankle, the one that had sustained a minor heel fracture a few months ago, was looking puffy again. It was already much larger than a “normal” ankle due to the excess bone formation he gets when he sustains injury, but it was even bigger. We decided to take him in and get an x-ray, have a little pow-wow with his primary pedi, and get him caught up on his immunizations.

We are still awaiting the official report from the radiologists (and I will update this entry when receive that report), but his pediatrician did notice something interesting… He could see where there had been obvious remodeling of the bone, likely due to the previous fracture, but he ALSO saw three small striations on his leg bones, right above his ankle. (Two on one bone, one on the other.) What he found curious, was that  they were very straight, and all perfectly parallel.  He thought they looked too perfect to be fractures, but then the question remains… If they are not fractures, WHAT are they?

Like I said, the radiologists will be able to tell us more information. Maybe they are stress fractures. But HOW on earth could he have gotten them? He loves to stomp, but I think we all know normal bones don’t just do that. (Enter our questions about a possible bone disorder… again…). Could it have happened from tripping or falling? Who knows. But at this point, there is no need to keep him off of it. If he felt pain, he would do that naturally, but it appears it isn’t something that could be exacerbated by him using his leg/foot as usual.

Then comes the immunizations. Remember how I was talking about hope in my last post? Hehehe Well, my husband said that when they gave him the two injections in his Right thigh, Connor didn’t even notice, true to form. But when he received the injection in his Left thigh, he flinched a little and made a teeny moan-like sound!! Yup, there I go again. It could have been incidental, just because he didn’t want her touching him. However, it finally dawned on us that the MAJOR injuries… Major finger/hand/mouth biting… major fractures, etc are all on the right side. We noticed the connection with the fractures quite some time ago, but it wasn’t until today that we realized all of  the serious self-mutilation injuries of his tongue, cheek, lip, finger, etc are on the right.  I think it is fair enough to assume that although he clearly has a lack of pain response across the board, the right side may be even more depressed than the left. Makes a person wonder….

I’ll be back later when we get the report. We have already contacted his neurologist and requested some other specialists to keep pursuing every single avenue we can to narrow this down. Oh- and he meets with the Osteogenesis Imperfecta “specialist” at the Shriner’s Skeletal Dysplasia clinic in August. We thought that sounded like a long way off, but our pedi spoke to him about getting us in sooner and he said that the specialist, himself, was amazed that we were able to get an appointment in less than a year! Apparently a 4 month wait is considered the fast track!

*Update: Got an email back from our local neurologist about the way he he is presenting and he said that since Connor’s uric acid was normal (associated with a disorder called Lesch-Nyhan Syndrome where kids, usually starting at the age of about 2, display self-mutilating behavior and also have severe cognitive disabilities- which Connor does NOT have),  “Then I guess this would then have to be considered as part of the syndrome of congenital indiffernece to pain.” Really? That’s all you have, especially for a guy that has no real experience in the disorder or a confirmed genetic test that proves he even has it? No, “I’ll look into it and see if there is anything else I can find?” Or… “Interesting. I wonder if we can do some testing to identify and maybe quantify the difference?”

I guess he clearly is not the neurologist for us. Moving on. Time to contact the NYU specialist.

* Another update: “Possible mild buckle fracture distal L fibula.” Waiting on urgent consult from his orthopedist. Great.  Make that SIX fractures in less than 16 months.

*The verdict is in: For now, anyway, we have been told that irregardless of Connor’s condition complicating treatment, this is not a bad enough fracture that they would try and cast it. WOO HOO! They also said that, “If he is walking on it, he can continue” and we will follow-up in the fracture clinic next week.  Ummm. IF? OF COURSE he is walking on it! Don’t they know who he is? Even after being reminded, I think the consensus is that with any other kid, they would allow them to use it as tolerated. Ken and I have decided to try and limit how often he is on it, give him ibuprofen for the inflammation, and ice/wrap it frequently, just in case. They may have actually caught a fracture this time, but we still don’t trust them. 🙂

So Confused…

I don’t get it.

Don’t get me wrong, I have heard the stories. I have read the blogs and seen the documentaries. But this is still SO CONFUSING! One minute he acts normal, the next he is chewing himself to pieces and doesn’t care. I just can’t understand what is going on with him.

The hardest part is getting our hopes up. I have heard about kids that don’t feel pain and then one day, some time down the road, they all of the sudden do. Like  a light switch went off or something was delayed in their neurological development and it finally caught up with them. It’s a fantastic dream. But not reality (yet). Every time we see SOMETHING that looks like pain recognition, we leap for joy. Most often, however, we are sent crashing back on our tails.

I think he is “learning” pain, at least. He doesn’t feel it but he is learning what sensations accompany the negative response he gets from us. For example, we have made a point to tell him about his pain. Every time he does something that should hurt, we say, “Oh, no! That’s an Owie! Are you okay?” You know… make a big deal about it. (Something we have all been told we are NOT supposed to do with our kids. Ha!) Since he is our second child, this seems to work because his big sister cries when she has “owies.” He is learning that an “owie” is something to be bothered by.

But it isn’t consistent.

If he trips and bonks his head, he rubs it vigorously and we say, “Owie!”  He has even started to look at us and make a little moan while rubbing his head. Almost makes you think he felt it! But if he bonks his elbow or something and we say “Owie!” he will rub his head. If he starts chewing the inside of his mouth, we say “Owie,” he rubs his head and just keeps trying to chew. I guess there is hope in him learning that way, at least. Even if he never really knows the actual pain.

The gum/cheek/lip chewing is the WORST part. The last two weeks have been downright rough in that regard. He has a big chewed-up spot on his tongue the size of an oblong nickle and every time is starts to heal, he does something to tear the healing tissue off and the process has to start all over. Now he has moved onto his cheek and inside of his lip, too. He even had a half-swollen face from all the biting damage for a couple days. It’s building up a pretty heavy amount of scar tissue, but it has slowed down now we have finally gotten to the point where he has had no more than one teeny bite a day for the last three days. Today, he didn’t bite at all! He is also learning what “No Biting” means, although he doesn’t understand it on the level we would like, yet. He’s just too young. But he does know it involves his mouth and that he is not supposed to do it.

I am sure I have mentioned it before, but the chewing isn’t from boredom or anything (except for when he starts gnawing on his hands/fingers). He is just like the rest of us- he injures the inside of his mouth from an incidental bite, and just like us, he plays with it. The only problem is that we know when to stop. He just keeps going…and uses his teeth. Next thing y0u know, there is blood everywhere. The other day, I layed him down to try and see where he was biting and get him to stop, and he started choking from the blood. The damaged tissue swells, and become even more interesting for more chewing…more bleeding… more swelling…

I am not trying to be dramatic. This IS how it is and I want those of you that are facing the same situations to know how that. It’s the most helpless feeling EVER to see your child harming themselves and there is little you can do to stop them. This must be why so many kids with this problem end up getting all their teeth pulled around 18-24 months. The more teeth they have, the worse the damage. We REALLY do not want to do that so we do our best to discourage, distract, and teach him that it is not okay. Therefore, finding effective distractions are key!

That said…. Gogurts.

You know, the yogurt in the tube that probably has way too much sugar for a little kid? Yeah, those. Freeze them and then break them out as a distraction/swelling reducer. It works so well that a part of me fears someday he will bite himself JUST to get the yogurt! Kidding. Just don’t run out- they take a while to freeze and you never know when you need one.

Anyway… Just when you think you have it figured out… Just when you think you have some kind of control, or hope- be ready to be proven wrong. There is no defined road. There are no answers without mistakes in the middle. It’s a confusing mess. But one will be sorted out in time, I guess.  In the meantime, NO BITING!

Revisiting

As I have mentioned, nothing about Connor fits in a nice, neat little package. It seems with everything we consider, there is something about him that throws it off. The diagnosis of Congenital Indifference to Pain just doesn’t seem right to me. Yes, it is true that he doesn’t feel pain, but I just don’t think that is the complete answer. There is clearly more going on here.

When Connor was admitted to the hospital because of his broken leg, they tested him for OI (Osteogenesis Imperfecta). It’s pretty much a default test for any child being worked-up for suspected child abuse. The local “specialist” in OI did come to see Connor and asked us quite a few questions that didn’t make much sense to us at the time, and then told us that a negative test did not rule it out completely and some variations would not be recognized via the test they ran. He also said that Connor’s dislocated radial head may be a marker for some forms. But at the time, none of us (including him) put much stock in it. Connor looks normal, he is of above average strength, he doesn’t break bones when he sneezes… He just doesn’t feel pain! We did a TON of reading about OI back then and found some VERY strong indicators in my husband’s family history (including a relative that even as a child, was confined to a wheelchair and “not allowed to play outside”) but no one had ever been diagnosed with it. Let me tell you, it got a lot of us thinking, but CIP was a perfectly suitable explanation for the fractures Connor had at the point of diagnosis. Not to mention he was severely vitamin D deficient. We were suspicious of OI, but it did not explain why Connor didn’t feel pain, so we put it aside. I think it is important to note that often times, due to the wide range in severity of the disorder, families are unaware that they are affected until they have a child that is more severely affected. Symptoms also vary, even between close family members.

Well, it continues to haunt us. It would be unheard of for Connor to have BOTH disorders, but the correlations between his symptoms and OI can not be ignored any longer. He has had 2 or 3 more fractures since he was diagnosed with CIP and has also presented a couple other things that jive with OI that we had not seen yet back then.

There are several forms of Osteogenesis Imprefecta and which one Connor could have is up to the docs to determine. But when reading the information about it, it’s like someone knew my husband’s family, read Connor’s medical chart, and wrote a list about what they found. These excerpts are pulled from the OI Foundation’s website:

Type I seems to be the most likely, but there are bits and pieces of other forms that also fit with Connor….

Type I:

* OI Type I is the mildest and most common form of the disorder. It accounts for 50 percent of the total OI population.
* Type I is characterized with mild bone fragility, relatively few fractures, and minimal limb deformities. The child might not fracture until he or she is learning to walk.
* Shoulders and elbow dislocations may occur more frequently than in healthy children.
* Some children have few obvious signs of OI or fractures. Others experience multiple fractures of the long bones, compression fractures of the vertebrae, and chronic pain. The intervals between fractures may vary considerably.
* After growth is completed, the incidence of fractures decreases considerably.
* Blue sclerae (the “whites” of the eyes) are often present.
* Typically, a child’s stature may be average or slightly shorter-than-average as compared with unaffected family members, but is still within the normal range for the age.
* There is a high incidence of hearing loss. Onset occurs primarily in young adulthood, but it may occur in early childhood. (This is a BIG one in my husband’s family)
* Dentinogenesis imperfecta is often absent.
* OI Type I is dominantly inherited. It can be inherited from an affected parent, or, in previously unaffected families, it results from a spontaneous mutation. Spontaneous mutations are common. (A lot more likely than a super rare recessive genetic pain disorder that both Ken and I would have to carry the gene for!)
* Biochemical tests on cultured skin fibroblasts show a lower-than-normal amount of type I collagen. Collagen structure is normal.
* People with OI Type I experience the psychological burden of appearing normal and healthy to the casual observer despite needing to accommodate their bone fragility.
* The absence of obvious symptoms in some children may contribute to problems at school or with peers.
* Family members should carry documentation of the OI diagnosis to avoid accusations of child abuse at emergency rooms. (HA! Been there, done that!)

Type IV:

• People with OI Type IV are moderately affected. Type IV can range in severity from relatively few fractures, as in OI Type I, to a more severe form resembling OI Type III. (Connor has had at least 5 fractures in 14 months… is that mild, or moderate?)
• The diagnosis can be made at birth but often occurs later.
• The child might not fracture until he or she is walking.
• People with OI Type IV have moderate-to-severe growth retardation, which is one factor that distinguishes them clinically from people with Type I.
• Bowing of the long bones is common, but to a lesser extent than in Type III.
• The sclerae are often light blue in infancy, but the color intensity varies. The sclerae may lighten to white later in childhood or early adulthood.
• The child’s height may be less-than-average for his or her age.
• It is common for the humerus and femur to be short
• Long bone fractures, vertebral compression, scoliosis, and ligament laxity may also be present. (Family history of scoliosis, as well)
• Dentinogenesis imperfecta may be present or absent. (He has two chipped teeth… relevant or not? Who knows)
• OI Type IV has an autosomal dominant pattern of inheritance. Many cases are the result of a new mutation.
• This type is characterized by structurally defective type I collagen. This poor quality type I collagen is present in reduced amounts in the bone matrix.

Type V:

• OI Type V is moderate in severity. It is similar to OI Type IV in terms of frequency of fractures and the degree of skeletal deformity.
• The most conspicuous feature of this type is large, hypertrophic calluses in the largest bones at fracture or surgical procedure sites. (HELLO!)
  
• Hypertrophic calluses can also arise spontaneously.
• Calcification of the interosseous membrane between the radius and ulna restricts forearm rotation and may cause dislocation of the radial head. (BINGO!)
  
• Women with OI Type V anticipating pregnancy should be screened for hypertrophic callus in the iliac bone.
• OI Type V is dominantly inherited and represents 5 percent of moderate-to-severe OI cases.

So how do you like them apples? It doesn’t answer why he doesn’t feel pain…. Nothing I have found makes any mention of decreased pain sensation other than that it’s a “myth” that people with OI don’t feel pain. I did see, however, that neurological complications may accompany OI.

So I suppose we just wait until we can meet with the doctor again to revisit this possibility. I think with what we now know, we will have a much more complete and accurate family history and more clinical information than we did last year. Seeing how these diagnoses are most often made clinically since testing is lengthy and sometimes inaccurate, we have a better chance of either defining the condition, or ruling it out. Hopefully, the latter!

“…That There Should Be.”

Connor has been rather hard to handle the last few days. I don’t know if it is teething, a growth spurt, or what. But he has been highly self-destructive and seems to think sleeping is for the birds. Ah, to be a blue jay….

I took him out today during the brief break from the frequent rain showers we have been having and let him run it off. We got home, snuggled, and off to dreamland he went. Expecting little more than spam, I checked my email to discover a breathtaking song/poem composed by a woman that never ceases to amaze me with her ability to capture the essence of human emotion and circumstances in her written word.

It brought me to tears.

The mere thought that Connor’s journey has had such an impact on others, even hundreds of miles away, is humbling. The fact that his “pain” is felt by more than his immediate family is….

….I am speechless.

All I can say is, ” Thank you.” Thank you for sharing your gift with our family. Thank you for thinking of us, and investing your heart and artistry into our little guy. “…He smiles up at me.”

And so he does. Every. Single. Time.

FOR CONNOR:

“He’s snuggled, ‘safely’,
In his crib at night.
His foot is caught between the bars,
He twists it free just right.
He doesn’t feel the pain
That there should be.
Doesn’t even whimper,
Still fast asleep.
I see it’s swollen as he’s jumping in the morning sun…
Then I see,
When he smiles up at me,
He doesn’t feel the pain
That there should be.

On his little belly,
Reaching underneath the couch,
Upset that he can’t get it,
Breaks his arm without an “ouch”.
He doesn’t feel the pain
That there should be.
Proudly holds it up,
He got it free!
Horrified that I just could not make it there in time…
And I can see,
When he smiles up at me,
He doesn’t feel the pain
That there should be.

He’s on a painless journey,
I’m painfully in hell.
They point “educated” fingers-
They “know the signs” so well.
Abuse is so much easier for them to diagnose…
They’d rather think it’s me than see
He doesn’t feel the pain
That there should be.

Buckled in his highchair,
Breakfast on his tray to eat.
He likes to hear the sound it makes
When he kicks his little feet.
He doesn’t feel the pain
That there should be.
He kicks too hard,
Now what? A broken knee?
Would you have thought I’d need to buckle down his legs as well?…
Am I the only one who sees,
When he smiles up at me,
He doesn’t feel the pain
That there should be.

He’s on a painless journey,
I’m painfully in hell,
I search for answers- memorized
I know them all so well.
Abuse is so much easier to say than “I was wrong”…
Is it so hard to believe?
He doesn’t feel the pain
That there should be.

Those diplomas littered on your wall
Don’t mean a thing to me,
When my little boy still suffers from
What you refuse to see.
With all those fancy words abuse is still all you can say?…
Help my baby, please!
Open your mind to see!
He doesn’t feel the pain
That there should be.

He’s on a painless journey,
Painfully I hold his hand.
Is there anybody out there?
Anyone to understand?
In a world of modern medicine our family stands alone…
Impossible as it may seem
He doesn’t feel the pain
That there should be.

-Gennafer Litke”

A Very Lonely Road

…And even more disappointing at almost every turn.

Four Months. I have been looking forward to this appointment for over four months. Obviously all that time and anticipation just gave me a false sense of hope and clearly unrealistic expectations. I thought we would finally find the experience and expertise we have been searching for locally and although I am sure there is plenty of it, there isn’t any in Connor’s disorder. Quite honestly, I felt like I was starting at the beginning, which is where I feel like we always are whenever we meet with someone new. I got the same stone cold faces. The same questionable reactions. The same requests that I can’t help but think are designed to revisit the horrors we have already experienced. Like, despite everything we have been through and the stacks and stacks of medical records we present, it isn’t enough and there is a nagging thought in their minds that we were just making the whole thing up or something. Do they think we are biting his tongue and chewing chunks out of his fingers, too? WHY can’t anyone wrap their minds around this!?

We sat and waited…. waited 3.5 hours to even see the doc. Ever try that with a 14 month old? I should hope not. By the time he actually got in the room, Connor was thrashing around, biting me, pulling my hair, arching his back so abruptly and severely I was afraid he would snap his neck. (He does that when he is uncomfortable and/or irritated. We have learned that it is important to keep him on a strict schedule with timely naps and snacks to remove the possibility of most any physical discomfort because once he reaches his limit, it’s crazy time and darn near impossible to bring him out of his frenzy.)

So pretty much all I got out of  the whole thing was, “I don’t have any answers, but we will follow his case.” Great. Thanks, but I need MORE than that. I need someone to put as much interest in this as I have. I need someone to LEAD, not follow. Is that even possible? Can any medical professional EVER care as much as we do about what is happening with our son?

It led me to think about how we all look at the medical profession. Most of us don’t need them for much more than relatively minor and/or common concerns. And there are specialists in the less common, but still relatively known conditions. It is something they likely see regularly, so they know exactly what to do. They work their “miracles” by ordering lab tests most people don’t understand the meaning of, give us meds that most don’t understand the purpose of, but we trust them, blindly follow their guidance, and then we get better. Woo hoo. Well, it doesn’t work that way when they don’t know what they are dealing with. THEY don’t go home and scour every resource available to them to learn everything they can. THEY don’t even bother googling the presenting condition before they walk in the exam room. Nope. THEY have no personal investment in it so THEY won’t go to the ends of the earth to help. YOU HAVE TO HELP YOURSELF. Guess what- docs are people. Not God, not Santa Clause, not the end-all-be-all of all that is medical. They are limited by their experiences just like we are and if they don’t have the answers, well…. you have to find someone that will.

We are being referred to yet another department. There has been a name that has been thrown around quite a bit in all of our local visits and everyone talks about how amazing he is. The thing is, he has seen Connor before. Yup. When Connor was admitted to the “we think outside the box” hospital for his leg, doc came and consulted. What happened then? Nothing. What will happen when we meet him again? Well, it better be SOMETHING! If not to strike yet another thing off the list, something HAS to be done before we are forced to pack up and move to NY so we can get the care we need.

They told us when we are at NYU that this would be a lonely road. I can’t find a functioning forum for the life of me… There are no support groups that I know of, no meet-up groups, facebook groups, or the like.

A-L-O-N-E.

Every time something happens to him (like the frequent tongue biting he has been doing lately) I just want to pick up the phone and talk to SOMEONE that can relate. Tell someone how my stomach drops when he slams his face into the ground and then looks up and laughs. How I can’t go 5 minutes without looking him over, trying to make sure that nothing is bleeding or misshapen. How I so badly want him to be a normal boy, but I can’t let him do the things he *thinks* he can do because he will NEVER EVER learn his lesson and will just keep trying to go head first off the couch or stairs. How I  just ball my butt off whenever I leave another appointment where the doctor  looks at me with a condescending eye when my son HAS A PROBLEM! Just because it is rare… Just because YOU haven’t seen it, doesn’t mean it isn’t affecting our son and turning our family’s world upside down. I am soooo afraid that something will happen that we won’t know about. My husband nearly died from a burst appendix as a teen, and his brother had appendicitis when he was a young child. What will happen to Connor? How will we know?

WHO IS GOING TO ANSWER ALL MY QUESTIONS??

Putting it Out There

I have decided to make Connor’s blog public.

I feel like things are stable enough now that I can comfortably share his story and each new step in this journey, hopefully offering up my experiences in a way that helps another family in the same or similar situation.

Part of the reason I kept it private was because we were looking into pursuing a medical malpractice suit against the doctors/system that failed us when we needed them. Because of them, Connor’s arm is permanently disfigured. It isn’t growing properly, is shorter than the other one, he will never be able to regain full range of motion, and now we are being told surgery is HIGHLY discouraged at any stage of life.  When his leg was broken, they admitted him to the hospital for 5 days and filtered in every specialist they could muster, but none of them took it seriously. He saw a neurologist that poked his feet with needles- even drew blood- and personally witnessed Connor’s lack of reaction. They all saw him standing and walking on his leg. They all saw that not ONCE did he require even ibuprofen for the “pain.” We were sitting RIGHT THERE telling them that he did not feel pain and they still sent us away with two possibilities: Child Abuse, or Brittle Bone Disease (which is incidentally, a very painful disease). Had we not been able to see the specialists at NYU, when that test for osteogenesis imperfecta came back negative they would have ripped our family apart. We had to do their job for them to save our family and get Connor the medical attention he required. What happens to families that do not have the ability or knowledge to do their own research? What happens to the families that can not afford to fly across the country to meet with THE leading specialist in their specific disorders?  What kind of recourse do we all have? None.

We can not find anyone that will take our case. We were not only attempting to go up against a very large medical system, but Oregon law prohibits people falsely accused of abuse from filing suit against their accusers. Additionally, if a child under the age of one suffers a fracture, a child abuse investigation is required by law. So what you have here, is a heavily flawed system that IMMEDIATELY takes the focus away from legitimate medical conditions and places it in the hands of people who’s job it is to see every child as one that needs saving. They call it a “neutral medical approach,” yet not one procedure they put him through (including general anesthesia) was for any other purpose than to find signs of abuse. And all the while, forgetting why we were there in the first place: Connor had a swollen leg for 3 days, had been sent home to walk on it twice (which he did), and was only there because we drove him to the fancy hospital on the hill demanding answers. I can understand why some may think the current legislation is a good idea in theory, but it did nothing but fail our son- more than once- in practice.

Every single family I have read about that has a child with a condition like Connor’s has gone through the same thing. Some have even lost their children for a period of time. I can’t help but wonder how many of them remain undiagnosed and bounce around the foster system. Is foster care the best place for kids with undiagnosed medical conditions when the parents are the only ones that are fighting to get that diagnosis? The NY specialists have a social worker that works very closely with them because this is far to common. I don’t know what the solution is yet, but clearly there is a desperate need for one.

We will work to find it.

Well, what do you know….

…it was fractured.

Not long after I posted the last entry about thinking Connor’s ankle was getting better, his foot started getting bigger again. And firmer. To the point that it would no longer fit in his shoe. At that point I knew it had to be that crazy callous formation due to a fracture. I have read that heel fractures are quite common for kids with pain disorders and it isn’t very surprising. You know how little ones will throw a tantrum and throw their legs down on the ground? Or kick the chair/high chair when they are either bored, excited, or ready to get out? Well, combine an unnaturally strong little boy with the inability to feel pain, and you get a fractured heel.

That makes 5. Five times he has sustained injury to the point of breaking something, and FIVE times we have brought him in for suspicious swelling and the diagnosis was initially missed. I just about lost it. The orthopedist did say that those kinds of teeny fractures are VERY difficult to see initially and it usually isn’t until there has been some remolding of the bones during the healing process that they are able to determine it was broken, afterall. The obvious difference in Connor’s case is that most kids stop using the affected limb. That speaks volumes, clinically.

It was enough, however, to get him to refer us to an osteo-metabolic specialist. Regardless of Connor’s condition, the fact that he is breaking bones so frequently IS cause for investigation. I think it is hard to convey Connor’s level of superhuman strength without one seeing it for yourself, but still… We thought that problem was solved when his Vitamin D levels returned to within normal range. But after his last blood draw, it appears he does have some other odd things going on.

In addition to having undetectable Vitamin D levels, Connor was severely anemic when he was admitted for his broken leg. He has been supplemented with Vitamin D and Iron since his discharge. Last we checked, his Vit D was normal, but this last round of testing revealed that the iron supplements have done little. He is “technically” no longer anemic, which is wonderful! But his hemoglobin is still low, and his serum iron levels have actually DECREASED! This is after 4 months of iron supplements every day, on top of iron-fortified formula and rice cereal for a few months, and just good ‘ole run-of-the-mill iron containing foods. Sometimes he had so much iron going in, the “stuff” coming out was black! So what does this mean? We are adding a hematologist to his arsenal of medical specialists. The genetic testing was put off due to customs issues, but we are anxiously awaiting what that- if anything- will reveal.

We are still holding out that there is some other explanation for all of this that will put everything in a nice, neat, treatable package. Quite honestly, it seems that if it was ONLY CIP, he would not have all these other issues. We keep doing our research, presenting our layman ideas to the docs, requesting everything we can to rule-out EVERY POSSIBLE THING we can come up with. If it means we have to take the “shotgun approach” to strike even the most unlikely diagnoses from the list, then that is what we will do. We have learned the hard way that the medical system doesn’t do it for you. We can not just sit back and trust that “they” will put nearly as much effort into it as we do (though they have been very supportive since we returned from NYC). When they thought we were hurting him, they brought very “ist” and “ologist” into it they had, but NONE of them followed up. NONE of them were concerned with anything other than child abuse. So where were they when we were discharged? Why didn’t the phone ring off the hook with referrals? Because they had made up their mind. It is so wrong on so many levels. Here was a child that clearly has a BIG problem, and we were thrown into the hands of DHS with no medical support. Shameful. Like I never fail to mention, I am just glad that we were given the opportunity to see the specialists in NY because there is NO WAY he would be given the medical attention he deserves had they taken him from us and thrown him into the hands of a random foster family. I am eternally gratefull Connor is the child of determined, stubborn, persistent, RELENTLESS parents that refuse to just take it as it comes. WE WILL FIND OUT WHAT IS GOING ON.

Anyway… enough of that. Connor may have all that nonsense going on, but it does not define him.

He is doing AWESOME! He is such a huge ball of personality that can hardly be contained. He is a dancing, walking backward, twirling, toy-stealing, big sister pestering, furniture-climbing, snuggle-bug-a-saurus. He’s added a few more words to his repertoire and just keeps on amazing us with his ability to keep us on our toes. His favorite thing to do (aside from running off with his big sister’s favorite things) is find new and entertaining ways to drive us crazy. 🙂 But he is the best kiss and hugger and that totally makes up for all his orneriness. He has developed the cutest mane of curls and chubby belly over the past couple months and uses very opportunity to show-off his belly button. I can hardly keep my camera off him. 🙂 That smile melts my heart in ways I will never be able to put into words.