I did it. I admit it. I know that I shouldn't have, but I just couldn't help myself.
I...Googled a medical term.
Honestly, I'm a repeat offender. I have three children: two pre-teens who have been diagnosed as being on the autism spectrum, and one 16 month old. I have Googled many a troubling phrase, and yes, found mostly troubling information to follow. Since that's my worst offense, I hope that I'm let off early for good behavior.
Of course I still Google, but who doesn't these days? I do it for my children, whom I love more than anything else in the whole wide world, and I don't plan on stopping anytime soon, so there!
THE BACKSTORY, or "The Reason I Have a Degree from GU (Google University)" :
My middle son has been called "an enigma" by some of the medical professionals who have observed him. So then, it's not really my fault if I resort to Google University if even professionals aren't sure what's going on with him, right? (I'm going to pretend that you agree, if only to make myself feel better...and so that I can get on with the point here) This blog in particular chronicles our experiences with him and his needs.
I should note here that I didn't personally coin the term "Google University". I'm pretty sure I heard it elsewhere prior to reading Jenny McCarthy's books on autism, but don't quote me on that either. I have a lot of useful information crammed into my tired brain, along with a whole lot of seemingly useless info that could probably win me millions on the right game show. If I've accidentally stolen it from Ms. McCarthy, all I can do is apologize, and offer to buy the second round of shots when we get to Heaven. Deal? I hope so.
His story begins with a fairly normal pregnancy. I only Googled once during the length of it! I had to find out what a choroid plexus cyst was, because one was seen on his brain in a sonogram. My Dr. assured me that they were very common, but none had been seen with my older son, so it was new to me. I still worried, because of the information that I found. He's 11 years old now and as it turns out, I didn't have to worry about that at all. (Incidentally, there were at least two found on my toddler's brain in utero, and once again I was told that they meant nothing. I'm less worried, but skeptical)
However, the night that my middle son was born, he projectile-vomited absolutely everywhere. I had never seen anything like it before, and frankly it scared the heck out of me. I called for the night nurse, who actually laughed at me, and told me that babies spit up sometimes. Well gee, ya think? I mean he has a brother at home who is only 13.5 months older. I kinda still remembered how it worked. This was not mere spit up. Something was wrong. I was told that the only thing wrong was my motherly instincts, and he was fine. It seemed futile to keep arguing with her, so I just stayed up and watched him. He didn't do it again for a few days.
The next day the pediatrician came in to inspect him. I had been so busy cuddling my new little sweetheart, that I had only given his digits the instinctive once-over. All ten there, wrap him back up tight and snuggle him close. I suppose that if I had done a more thorough inspection, I'd have noticed that the first two small toes of each foot were ever so slightly webbed together. I probably don't have to tell you, that's not normal, and it's not a good sign. When she looked at his left foot, she immediately said "Oh...no." in a monotonous and somewhat low voice. She said it could mean a number of different things, and we would just have to look into it more closely once we were released.
You can bet that I Googled that when I got home too, but I didn't find anything else that really fit at the time. It would fall together better when he became older and exhibited other characteristics. She never mentioned that the anomaly was also present on his right foot. I only noticed it after she left. He was also very jaundiced, which is unrelated to his other problems--but he had to stay two extra nights and half of a third day in the hospital, and I was made to go home earlier than he was. We were thrilled to be able to go back that evening to take him home, but even being apart from him for those few hours was very difficult, knowing that *something* was wrong with him.
The pediatrician who had inspected him wasn't our regular Dr., she just happened to be at the hospital doing the rounds. His regular pediatrician was an extremely laid back gentleman, who told us that we could go have his foot looked at by a specialist, but it would be a waste of time to do it until he was closer to walking age, so we waited. Months went by, and we went to all of our appointments as we should. He developed colic, GERD, and chronic constipation, so we had another specialist to see, and treatment plans to follow.
At his 4 month checkup, his pediatrician decided that something new was wrong. He diagnosed him with congenital torticollis, which means that he was born with his neck slightly out of line. We were told that it could be fixed with physical therapy, so we were sent to a nearby therapist. She eventually felt that he would have difficulty walking because of the weakness of his ankles, and pushed for us to go to the ortho earlier, so we went.
His first ortho was pretty much a joke. We left that appointment very disappointed. He told us that he wouldn't do anything until he was closer to walking age, and that there wasn't anything really wrong with his toes as they were. The PT (physical therapist) had sent us to him in the hopes that he would fit him with DAFO braces. When we told her what he had to say, she promptly recommended another ortho, who agreed that the braces were needed.
Then more problems arose. He didn't roll over on his own. He didn't sit up on his own. He didn't crawl for the longest time, and then he Army crawled for a year, once he learned. Each problem had its own solution of sorts. Nothing actually fixed them, but we all made do.
When he was 10 months old and still not sitting, the PT delivered another blow that our pediatrician missed. She felt that he might have a neurological problem, and suggested that we get a referral. His pediatrician shrugged and said sure, but kids develop at different rates, and off we went to the neuro. The neurologist picked him up from my lap, hands under his armpits. Our son crossed his legs when he was picked up. The neuro promptly diagnosed him with mild Cerebral Palsy, because he crossed his legs. We were floored, and still not 100% convinced to this day.
An EEG was ordered, and found mostly normal, as was his MRI. No clues, no answers. No trauma, no real difficulty with birth (we did both require oxygen, but that was either greatly downplayed by the delivery room staff, or it truly wasn't that big of a deal--they gave it to us right away, and we were fine--there wasn't any shouting and rushing about like you'd see on TV). It was estimated that he would walk by the time he was 18 months old. At around the time that he was 18 months old, we moved back to my home state of IL (we had been living in NV, where the boys were born). His new pediatrician set us up with the Early Intervention network, and he started receiving physical, occupational, developmental, and speech therapies.
His new physical therapist told me that she felt that the diagnosis of Cerebral Palsy was incorrect. (especially after I told her what brought on the diagnosis, and that his neuro tests seemed normal) We also noticed at this time that his body was becoming increasingly hairy--mostly his back. His father is supposedly of Italian descent, but since he is adopted we are not completely sure (he refuses to have genetic testing done). We assumed that the "extra" hair was more noticeable because it was dark and he was fair. He also appeared to be slowly growing a uni-brow, and his teeth were widely spaced. However, looking at his father's childhood photos, he also had these physical characteristics, and he does look more like his father than he does me.
(his father and I have been divorced for awhile, hence the differences in their ages vs. my toddler's, and why I make the distinction between "our son" and "my son"; one set of facts comes before the divorce, the other set, after, where I feel it less appropriate to say "our" because I am the one who took him to the appointments mentioned in those paragraphs)
At any rate, the new physical therapist suggested that we get a referral for a genetic workup, so we did. He was seen by what we were told was one of the top pediatric special needs teams in Chicago, IL. The pediatrician of the team told us that his face was crooked--one cheek was higher than the other. I asked if that and his torticollis could have stemmed from my always holding him on the same side to feed him (I tried to switch, but it was hard to remember because he rarely slept and screamed a lot...for months...of his early life). She said she didn't really think so. She noted that his eye color was very light compared to mine and his father's. My eyes are very dark green, his father's are very dark brown. His eyes are blue-green hazel. She also said that he might have minor microencephaly (which is the only time I've heard this term used in his various diagnoses, so I guess that was incorrect), and that his ears weren't properly placed (it's hard for me to tell, must be a very slight difference to the norm). His hand and foot bones are crooked, as if they have been broken and poorly set. She found several heartbreaking things wrong with him that day. In retrospect, they were very obvious things, but as a loving mother, I look at the boy, not his characteristics. The silver lining was that we were finally going to get answers, and getting answers meant getting help.
Or so we thought.
She turned him over to the neurologist of the team, who was excited to see him. Our son could perform none of the tasks they asked of him; putting small blocks into a teacup. Putting a peg in a peg board, or pulling a peg out of the peg board--or putting one peg into the top of another peg, as they had holes so they could be stacked. The new neuro told us that he was referring us for genetic testing, because it was clear that he had some sort of syndrome. He told us that from their findings so far, he was "nearly convinced" that he had Angelman's Syndrome. While we waited for the blood tests to come back (and those were a BEAR to get done, that's putting it as nicely as I can, he screamed the whole time as you can well imagine)...I Googled Angelman's Syndrome. As it turns out, I didn't need to worry about that either.
None of the genetic tests showed positive for anything. There was one test that I wish I had known about, so I could have requested it. I have read that there is a genetic test for it, but have been told by a gastroenterologist a few months ago, that no such test exists. (Does he know what he's talking about?? I don't know, because I only Googled it!) I know, you're wondering why I asked the GI specialist that particular question...but I didn't. He asked me if my son was autistic, and I said that he had been diagnosed as such, but has so many physical characteristics of Cornelia De Lang Syndrome, which is often misdiagnosed as autism; that I was going to have him tested for CDLS. That was when he agreed with me that my son has CDLS, but said that no test exists. Again, he's a GI specialist, so your guess is as good as mine, there.
Back to my little toddler-aged (at the time) enigma. He finally learned to walk with the help of a Kaye posterior walker, and hinged AFO braces. He was Speed Racer using that walker for awhile. He began preschool in the Early Childhood program at age three, and he zipped all over the school in his sporty racing walker. Then one day, he just started walking without it. Then, he started running! Awkwardly yes, but running nonetheless, and it's still one of his favorite past times today.
Between the ages of three and eleven, not many new developments have come about. Partly due to a certain family member who-shall-not-be-named (can I call him Voldermort? I generally refer to him as Dursley because he's not quite as bright as old Voldy. Please don't sue me Ms. Rowling!)...as I was saying, partly due to his deciding that I was not allowed to take "the boy" to more Dr.s, therapists, testing facilities, special schools, etc. without his explicit permission; and he verbally refused to admit that there was really anything wrong with him at all. Of course he knew, and he has gotten marginally better, but only since there are 1200 miles between us (and because I have carefully explained to him that he could be charged with neglect if he doesn't allow me to get him the help that he needs).
We had moved back to NV when the boys were 3 and 4 years old. Worst. Decision. Ever. (well, second worst, you can guess the first if you just read that last paragraph) My oldest son lost his IEP, because and this is honestly a direct quote from the meeting "IL standards are much higher than NV standards. He only qualifies for an IEP there, but he doesn't qualify here because of the difference." Say wha? Did I hear that correctly? And, she was quite proud of that little fact. She smiled when she told me. I suspect that the school board must have planted a microcamera in her pen or something, and she couldn't let me know how she really felt about that...because who in the HELL could be happy that their educational standards are LOWER???? But, I digress.
My oldest had yet to be officially diagnosed with Aspergers Syndrome, and I guess since he didn't have a diagnosis, they felt that he wasn't a special needs child. They moved him to the larger preschool room, and the teacher promptly took me aside and told me that he was definitely autistic...but what does she know, she just teaches kids like him for a living. (I'm totally being sarcastic there by the way; of course it's obvious that he's autistic, and it makes me sick that both she and I could see it, but the special needs team just swept him under the carpet they way that they did)
Again--this backstory is really about my middle son, because he's the reason I started this blog. My middle son was diagnosed as autistic in his second year of preschool, and also promptly kicked out to be placed in a different class. OK, that time I understood. Meanwhile his older brother struggled in a regular class for the rest of his educational lifetime (which isn't over yet), although he did start receiving help and regained his IEP in NV at the end of his second grade year, once we got his official diagnosis of Aspergers Syndrome.
So the breakdown is:
Oldest son diagnosed with AS and exhibiting heavy ADHD behaviors.
Middle son so far diagnosed with "moderate autism", "moderate mental retardation", and "mild Cerebral Palsy".
My middle son is eleven years old as I have said, and he doesn't speak, he has some "baby babble". He seems to understand a lot, though. He is mostly mobile, though he falls down a lot. He's going to require surgery to lengthen the tendons in his heels so that he can walk better (he turns his feet badly, and doesn't wear AFO's currently, as his last ortho in NV--an entirely different Dr. from the first two because "Dursley" wasn't happy with the second--decided that the AFOs were not helping, therefore he didn't need them. Ever. Six years since then, the new/third ortho says that the old ortho was wrong)
Because the Dr.s and schools were so difficult to deal with in NV, I decided to head home to IL, where things had gone so much better for us when the boys were very young. Unfortunately for us, all of IL is not created equally, and the area that we live in (central IL, where I grew up) is not nearly as "good" for this sort of thing, as the Chicago suburbs were. The best thing to come from our moving back a year ago, is that my middle son is able to go to a specialty school that deals with a great number of autistic students. I'm still very happy with my decision, I still think it was the right thing to do. It's just hard jumping through all of these hoops, waiting for all of these appointments, and dealing with all of the information I am given--or not, as the case may be. I shouldn't expect it to be easy. I just want answers so I can move forward with the real diagnosis, if there ever is one.
Which (finally) brings me (closer) to the reason that I began this blog in the first place. (you didn't think that I'd forgotten, did you?) I've been setting all of these new appointments for my middle son, because I needed to find out what we'd missed out on treatment-wise in those years that I wasn't allowed to take him to the Dr. except for sick or well visits. (no specialists allowed, because "they weren't helping him") He has always been chronically constipated, and the Mirilax that was prescribed to him at age 2 seemingly didn't work anymore. So, I got him a referral for a new GI specialist here. You know, the one who "armchair diagnosed" him with CDLS and says there's no test for it. Him. The appt. was arranged through the hospital network, via the special school that he attends.
Sounds great, right? Except that when you call the main number, you're transferred to about five different people (the first four are always the wrong offices, invariably). So they set us up with this guy...and the waiting list is looooong. We get there, and near the end of the appointment he turns to me and says "Oh, by the way, today is my last day. I'm leaving the practice, but I'm referring you to my colleague." OK. (I neglected to mention that the very same thing happened just weeks before, with his new ortho...except that she was going on maternity leave and not coming back to the practice...and she apparently "forgot" to refer us to her colleague, because I had to call and arrange it myself after not hearing back for forever and a day--and yeah, that means we're on ortho #4 already)
So the GI spec who's leaving, tells me that he's ordering a battery of tests to be done ASAP, because it's obviously very important. He wants a scope done to check his esophagus, a rectal manometry test to make sure that he's able to...well, poop, and he agrees with me to test him for gluten intolerance, and even mentions the term "leaky gut syndrome", which I haven't heard since my Google U days! (ah how that takes me back, where is my cheerleader uniform? I wonder if it still fits?)
You know by now, that there's a catch. There is ALWAYS a catch. I think that my parents are covering up the fact that "Catch" is really my middle name, and they just whited it out on my birth certificate, and put "Elaine" in its place, after realizing how much trouble I'd have in life. Honestly, I do.
The catch this time, is that the test can't be performed locally. I have to drive three hours. I'm still not sure why. We have quite a large hospital, that I'm assured is wonderful, but I guess either this Dr. doesn't do the tests there, or they simply can't be done there. I will say right here and now, it had BETTER be the latter, because yes, you guessed it, there is more to this story.
This esteemed colleague is partly retired. I was advised of that, but assured that he is quite competent, but it's kind of difficult to get an appointment with him, because of his semi-retiredness. (did I just coin a phrase? probably not.) This is why I wasn't surprised when our first appointment for the tests was cancelled, because they suddenly realized he wasn't going to be at the hospital that day. OK, no biggie, except that the boys were supposed to be spending at least part of their summer in NV with their dad...which meant that getting the appt. was even more difficult with his limited schedule. Still, not impossible. (I swear, the Mission: Impossible theme just began in my head...that, or there's a tiny orchestra following me around, I'm not sure, I tend to go a little crazy now and then)
We had to wait for their return from NV in order for his tests to be done. I drove the 3 hours, and didn't get lost. We were even early. And yes, there is more. Haha!
Catch!
We waited for only a few minutes in the actual waiting room. (and thank goodness, because there was only one TV, and I loathe soap operas...and in those few but agonizing minutes, I found that Victor and Nikki really haven't changed that much in 30 years since I last saw them whilst dashing inside my parents' house to get a glass of Kool-Aid before going back outside to play. Outside. We really used to do that.)
Then we were called back to the prep room/recovery room. I got my son dressed in the backless gown, and we watched movies on my phone while we waited. And waited. And waited...and...waited. And then...the nurse came back to let me know that they had, once again, "accidentally" scheduled his tests on a day that the specialist was on vacation. Oh, but they could call someone in on-call to do it, since we came so far. Would I mind that? So I explained. I've never even met this mysterious Dr. Semi Retired. I'm not entirely sure that he actually exists. Maybe he's blurry, like Big Foot (your fans miss you Mitch Hedberg!).
I may never find out.
His tests were done by the saving grace on-call Dr., who spoke fairly broken English, and surprise-gifted me with a set of photos of my son's innards from the scope, which as the term "surprise gift" clearly indicates, I was not expecting to have shoved into my hands. He said that all of the tests came back fine...except that he could see some swelling in his esophagus. So, they "blew air" into it to see if it retracted properly, and it didn't really do the job that it should have. He suspected Eosinphilic Esophagitis. He did a couple of biopsies to be sure.
He was right.
*cue drum roll, I really am to the point now*
I waited and waited for the results, because he couldn't tell me on the spot, he had to wait for the biopsies to come back. They never called, so I called them. After my call was expectedly mishandled several times, I was finally able to leave a message, and in a few days, I received a return call from the nurse of the office of Dr. Mysterious Semi Retired (who is probably blurry like Big Foot). I got what I asked for. She confirmed that yes, he does have Eosinophilic Esophagitis. BUT she said, the Dr. (please don't make me type all that again) would want to discuss treatment options with me at a follow-up appointment, and...another drum roll please...he's not available for a few more weeks.
I dusted off my Googling skills, which brings us full circle, back to line 1. I shouldn't have done it, knowing that I had to wait so long to talk to Dr. Mysterious. (I admit also, I'm terribly curious as to whether or not he'll be at the follow-up, or if someone else will get stuck with us, like the last kid chosen for kick ball)
Treatment possibilities are: steroid sprays, because this is caused by allergies; or, the Six Food Elimination Diet, which may or may not include some very expensive hypoallergenic baby formula to keep his nutrition up, because the six eliminated foods are very nutritious, and he can't have any of them if this is the treatment option necessary.
Last resort...being fed via tube, with the expensive formula. It's interesting to note also, that this is the very same formula that he was given as a baby when he had colic and GERD, and that EE is often misdiagnosed as GERD. Ah my little enigma, how I love you so. You really keep your momma on her toes, but I wouldn't have it any other way. I love challenges. I just need a break now and then, and this diet thing is daunting to say the least. However, it is much, much, much better than the tube feeding option, and I truly hope that we don't have to do that. For his sake, more than my own.
And there you have it. I Googled my little heart out, and I'm not ashamed to say it. However, I found that there was very little information for parents starting out with this diet. I had tried the GFCF diet for him years ago, so I'm familiar with the do's and don'ts of eliminating foods (cross-contaminants, hidden ingredients, making pretty much everything from scratch, etc.).
Our appointment with Dr. Mysterious is in two days. (or is it?? I will let you know afterwards, and try to get a clear photo of him if at all possible--Loren Coleman might even be proud of me for it--maaaaybe I could submit it to Fate magazine!)
I'm nervous about what (whoever, insert random Dr.'s name here) will say the treatment option will be, out of the aforementioned possibilities. Whatever they determine, I'll do it. Whatever it takes.
To prepare myself, I've Googled recipes for the diet, and come up with just a sorry half-handful. Being an avid pin-ner at Pinterest, I began a board specifically for the diet, and substitute food and ingredients lists, and any pin-able info I can get my hands on (or a virtual pin into, some things don't have photos or videos, therefore they're not pin-able--I kept those as bookmarks and will list them in a future blog post here).
If no one else will collect information for parents in my shoes, then I'll be the person to do it. I hope that you all find it useful and helpful. I'll be updating as often as possible. Most information that I have found is quite old, and no longer being added-upon. I don't know if they just gave up writing about it, but I have no intention of letting others down in such a way.
Bless you all, strong parents of kids with different needs--whether "special" needs or not. Bless you all, and may your future "trials" be less than those you've already overcome.
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