4 Year Well-Baby Visit

We finally had Ayden's 4-Year well-baby (child?) visit this last week.  To say it was traumatic (for me) would probably be quite an understatement.  We had to reschedule this visit, which is why it is so late, and ended up having our appointment with the "new" doctor in our practice instead of our normal pediatrician.  We used to have a nurse practitioner at our office as well as our normal pediatrician, but she left back in January and since then it has been difficult to get into the doctor.  It's nice to have the option of seeing someone else if need be, but we will not be seeing this particular doctor EVER AGAIN.

Obviously, Ayden has a decent amount of developmental delays.  Our visit to the FX Clinic back in May included many evaluations and our doctor's office has all those on file.  I know exactly where he is behind, what month he is testing in for all areas of development and essentially more about Fragile X then most people around.  I live it, it's expected.  I certainly don't expect our normal pediatrician to know as much as I do about it, but expect that she will take suggestions I have into consideration and research them if need be.

So, the first thing this new doctor has me do is fill out a basic "What is your child doing?" evaluation.  I've filled out a ton of these, and breeze through it.  I know he's behind, I don't need a test to show me.  I'm a bit annoyed I have to fill it out given the records we have on file, but whatever.

Ayden is doing pretty well at this point as our appointment was during his normal nap time.  He has sat through me filling out this evaluation, made it back to the actual room with the nurse, and had his weight/height taken without too many issues.  Overall, very good for him.  His anxiety level at this point was very low.  I went over the things I wanted to cover with the doctor including finally getting our referral to the speech and occupational therapy programs at Sparrow Pediatric Rehab.  They happen to be the ONLY speech therapy in our area that takes insurance and have a 6 month waiting list which requires a doctor referral.  I also wanted to discuss the possibility of Minocycline and ask our doctor to do some research for me, of course providing her with some articles explaining how it can benefit FX children.  We haven't decided we for sure want to try it, but I wanted our doctor's opinion after she looked into it.

Nurse leaves, new doctor comes in.  He immediately approached Ayden without saying anything to me and touched his face asking what the two marks on it were.  (They were mosquito bites).  My ultra low anxiety Ayden now hits the roof and begins flailing and screaming.  Issac, who hates his brother like that of course tries to help by handing him anything he thinks Ayden would like making it much worse.  Meanwhile, new doctor is talking over the top of screaming - STILL has not introduced himself.  Uh....really?  My annoyance level is now also pretty high. 

I do get Ayden calmed down, fairly quickly for having had a stranger touch him without warning.  Heck, I can barely touch his face with out telling him first and even then he barely tolerates it.  The doctor now says to me...and I want to quote this.... "So, he's autistic or something?".  Jaw. drop.  I expect that from strangers.  I expect that ignorant people.  I DO NOT expect or tolerate that from a pediatrician who HAS MY CHILD'S CHART IN FRONT OF HIM.  I very calmly explain that no, he has Fragile X Syndrome with a dual diagnosis of PDD-NOS and all his paperwork should be in his file.  His reply "So, he's autistic.  Ok." then immediately launches into a lecture about how I need to get SSI for Ayden and other supplemental insurance because I'm doing him a disservice by not having those things available to him.  In the midst of this, he explains how Ayden's Early On teachers are also terrible and not doing anything they should - also tells me we need a caseworker.  Did I mention he still hasn't introduced himself or even asked my name?  I am BEYOND frustrated at this point.  For anyone to tell me I am doing my child a disservice by not taking government money that we DO NOT NEED is beyond arrogant.  To then tell me his wonderful teachers are terrible is just another thing entirely. 

So, frustrated, annoyed, and totally flustered now.  Doctor beings going over the developmental evaluation I filled out.  Tells me Ayden is severely delayed.  (No kidding?  Did you even read the Fragile X stuff in his file, it's pretty detailed).  He tells me Ayden's percentiles which the nurse already went over and then starts checking Ayden out.  Of course this part is terrible, but I instruct him how to do it the best way and thankfully he does listen.  It's never pleasant, but necessary.  I decide while this is happening to totally skip the minocycline talk - I'll have it with our actual doctor later, it's not imperative anyhow.  I do; however, need the referral, which seems like it shouldn't be a problem.  Doctor gets ready to leave and I remind him of the referrals for speech and OT.  In yet another "really, you are a doctor" moment - he says "Why would you need that?"  I am SO DONE by this point, so I'm sure I was rude.  I explained SPR needed the referral sent directly from the office and wouldn't accept it any other way.  He was insistent that the FX Clinic we went to should have done this for us to which I very firmly told him he needed to write it out for us.  He still only wrote up a prescription, handed it to me and left as he's telling me the nurse will be in for vaccinations in a few minutes.  You know, the first time he mentions it at all.  I had no clue, so didn't have time to even ask which ones he was getting.  In retrospec, I should have checked...but I was so flustered already.

Vaccinations are always terrible for us, and Ayden needed a total of 4.  It took 3 of us to hold him and 1 nurse to administer the shots.  It's the first time I've ever cried during shots...it was just terrible.  I know it's needed, but it was difficult this time.  Even with all of us holding him he still moved and got a nice scratch from one of the needles.  Just a very sad end to a terrible doctor visit.  Now...back to the vaccine part - I  rarely refuse vaccination, but I had turned down one that I decided not to have him get.  I can't remember which one it is, but there is one that now covers a new strain from when Ayden has his, so he essentially would be getting an "extra" dose.  I wasn't okay with that, so I turned it down after checking into it at Ayden's last visit.  We put it on the chart, so I guess it didn't cross my mind to double check.  The risk is small, it's not required, and it was an extra dose I just didn't feel comfortable about.  Somewhere in the midst of the chaos that was his appointment, this doctor decided to give Ayden this vaccine anyhow.  Without telling me. Not a happy mommy.  I don't know how it slipped by the nurses, but the damage is done now.  I feel like he probably told them I ok'd it, because our nurses are amazing and have never made a mistake and ALWAYS respected my wishes.

I did have a chat with the nurse after the vaccinations were done.  We were lucky enough to get my favorite nurse, and I politely asked if this doctor would be a permanent addition to staff.  Luckily, he is temporary and only works a few days per week.  We now have it listed on our chart that we don't ever see him.  I of course checked to be sure our normal pediatrician was not retiring with new baby on the way, if so we definitely would look into another office.  Thankfully it's not in the works...and more doctors in our office are.

Now, I'm sure reading this very negative post you realize it's a fairly uncommon thing for me.  I do, in fact, try to keep this blog very upbeat.  This visit was just so off the wall, and not normal.  My reason for sharing is simply to let others know these type of visits DO happen.  And they are most definitely not normal or okay.  No one should ever leave a well baby visit  feeling like this, so if you are then please do yourself and your child a favor and find a new doctor.  I think so many times with insurance we can forget that we are customers and should be treated with respect.  Of course doctors often have to say thing we don't want to hear, but the manner in which they do it and the way that treat us and our children is very important.  I know, personally, we are very thankful we have an amazing pediatrician.  Given the fact the whole office is so wonderful, I doubt it will be long before this doctor ceases to be a part of the office.

Until next time...

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Staying At Home

One of my biggest pet peeves is when someone says to me (or Mr Awesome) "You are SO LUCKY to be able to stay home with your kids".  Usually I just smile and nod, but it really gets to me.  

See, luck has nothing to do with me staying home with the boys.  It was a conscience decision made my Mr Awesome and I when I was pregnant with Ayden.  We worked out the numbers of daycare versus me staying home and decided we could do it.  At the time the decision was made, we essentially cut our income in half.  It wasn't easy, especially for the two of us who are big spenders and big givers, but we made (and continue to make) the necessary sacrifices to make it happen.  We both agree that it is better for the kids and very much worth it to be raising our kids ourselves.

Some of those sacrifices are certainly not easy.  We don't have cable tv, we don't go out to eat for dinners, we rarely have a "date night" or go to the movies. We survive with a single vehicle and make the best out of free or very cheap things to do in our area.  We don't have new furniture and still use many of the dishes from my "first apartment" stash.   We don't go hang out with our friends at the bar, or travel like many other couples our age do.  Normally our "hanging out" tends to be at our house or our friends' house - though definitely more at ours because it is easier with Ayden. 

Speaking of Ayden, I can't imagine where he would be if he had been in daycare.  Heck, I'm not sure many day cares would have taken him at 18 months, I know I was pulling out my hair and I am his mom!  It worked out for the best that I was able to work with his therapists and then work with him on things they instructed me when they weren't around.  The 1-on-1 care and therapy he received from me and his therapists was just invaluable when it comes down to it, and certainly not something that would have been as effective if I was working all day then coming home and doing it - Ayden's worst time of the day still is between 5 and 7 pm!

We lived for a few years under an on-call schedule for Sherief that more often than not consisted of us having delayed or ruined plans and at least 2-3 times a week we would receive middle of the night "emergency" phone calls.  During those years, it was rare that we all sat down to dinner together or really had much free time at all, but the company Mr Awesome was with took care of us, and we will be forever grateful for that.  At the point it became too much, Mr Awesome took a large pay cut to begin work at a more stable work place.  The new place, where he continues to work now, offers a lot more advancement opportunities as well as being more stable - so in the end, we made a decision that was difficult at the time but a good step towards where we planned to be in the future.

Of course there are other things we sacrificed, but this is just a small taste of it.  I look at those people who say to me that we are so lucky, and can be jealous of their new cars, leather furniture, huge houses, and being able to go to movies and out to eat every week but instead choose to cuddle with the boys as they watch tv in the morning, read books to them, or sing songs with them and dance.   I am there when they get up in the morning and when they go down for naps in the afternoon.  I have never missed a milestone with either of the boys and was even able to video tape Issac's first time crawling to share with family.  I know being a stay-at-home mom isn't for everyone and I certainly don't think less of anyone for working and putting their children in daycare.  I just know that this is where I am meant to be, and raising my children is what I'm meant to be doing right now and worth every single sacrifice we make.   All those things I listed above, they're just things, but the time I am spending with the boys right now is something I'll never be able to do again, and something I'll treasure for the rest of my life.

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Are You Aware?

National Fragile X Awareness Day is Friday, July 22, 2011.  Please take a few moments to share Fragile X with someone who may not be aware.

Are you aware?

Unfortunately, the answer for so many is NO.  Today, I want to share with you some things that have been said to FX parents from family, friends, random people, and even some doctors.

Please note:  I've edited a few of the comments to keep some anonymity.

• My ex-husband (when my son was diagnosed) "Of course it came from her side"
• I was a Nazi Concentration Camp Guard in a previous life and my sons were Jewish prisoners. It is now my turn to reverse my Karma and take care of them...
• ‎So it's genetic. Maybe it'll go away.
• Are you sure they didn't get Fragile X from their immunization shots?
• Your miscarriage was probably a tumor and not a baby. Maybe this had to do with a tumor, too.
• This guy at church came up to me and my son and looks him in the eyes and says, " I know you can behave and be quiet, I've seen you do it. You need to stop all that noise you are making and be good for your mom." Thing is, my son, who was 5 yrs old at the time (2 yrs mentally), was being really, really good AND paying attention.  
• It must of been something I ate when I was pregnant that made it mutate.
• Oh...but he is still cute! 
• Isn't there a pill for that?
• Why don't you just give the kids some protein and that will cure the fx.
• You just need to spank him more. Then he will behave like a proper little boy.
• Can't you cure him like Jenny McCarthy did with her son??
• Speech therapy for a boy who can't speak?
• She doesn't have autism because she has such a beautiful smile..
• Will he grow out of it??
• Fragile X boys die in utero and usually are miscarried
• When I called an Autism group around the time of our dual diagnosis - I was informed I didn't belong to their group because Fragile X is large testicles and all that ... (Last time I looked my daughter doesn't tick that box!)
• He's suffering!
• When I first read about FX and asked for my son to be tested and spoke to our pediatrician cause I'd just discovered I was pregnant again and was worried about it - he told me not to worry as FX wasn't passed on like that! You obviously catch it through sneezing!! 
• You know, the geneticist told me that carriers are really difficult people to get along with.
•  Don't worry, I've been praying, and God will make this go away
• Aww... His poor/pitiful soul.
• If only you would have baptised him he wouldnt be autistic and he would sleep better with God watching over him.
• I had one guy tell me he could lay his hands on him and heal him.
• Lab: "Mrs Mom, it doesn't appear that your son (my youngest, then 2 months old when my oldest had already been diagnosed) has Fragile X, but we want to test him again just to be sure". Later I found out that they had really lost the test and didn't want to admit it. 2 months later: "Mrs. Mom, your son does in fact have the full mutation".
• I've had one doctor tell me I read to much on the internet because i was going in to get a blood test to see if i was in menopause.  It had been over 6 months of symptoms and I told he about FX, but he told me there was no way.   ((Later I went back and was able to say "I told you so!"))
• You like your children being the way they are because they are dependent on you.
• A comment from our (ex) pediatrician when I brought to him my concerns (again) about my son's development - "Oh, there's nothing wrong with him, he's just lazy!"
• He doesn't walk because you carry him all the time but then again muscular dystrophy may be an option, hmm.
• Genetics-Prof at Notre Dame- "Fragile X? That is so very rare- your son doesn't look like he has it. Chromosone testing is used to diagnose this- I wouldn't waste money on a DNA test!  ((This is where I take out the paperwork from Kimball Genetics that has the DNA test results.))
• My son's first Pediatrician told us that he was just "lazy" because he had an older brother and sister.
• Pediatric Neurologist - I know I have diagnosed your son with Hypotoinc CP- Fragile X is very unlikely- your son does not have any of the clinical features. Me- I have results from a DNA test- Doc reads the results- " I know the doctor that ordered the test- I didn't think about Fragile X" ((This is three years after the diagnosis of Hypotonic CP!))
• The best developmental pediatrician in our state told me after evaluating my son that "there is nothing wrong with him, he's just a boy. He will be fine when he goes to kindergarten. One day you will look back on this and laugh at how you were unnecessarily worried".  ((One year later, my mom, a nurse, brought me info on Fragile X and my son was tested. When I met up with this Dr. a few years later, I said, "Oddly enough, I'm still not laughing."))
• "There is no way we have Fragile X, we don't have that in Alabama."  Having already met several families from Al - I said, "Well, actually you do have Fragile X in Alabama"  Her reply - "They must not have been born here."
• I was asked if Fragile X was caused by inbreeding!
• When my daughter was diagnosed in 1995 the doctor told me "I guess she is just unlucky"
• I was once at a FX conference in Wash. DC. I ran into a woman I had met earlier and she was sitting at a table with a group of people. She said to me, "Oh, tell them about your family" and I did - one with autism, one with FX, one typical and one with tri-21 and yes, they are all biologically mine and their father's. The woman then said, "Isn't that just amazing?! Mary, you're a geneticist...what would you tell her?" Mary looked at me, quite uncomfortable by how the first woman was behaving and said, "I'd tell her to move to Vegas - those odds are amazing!" ((I laughed until I cried...so funny) 
• I was once told it was because I did not bond with my son while I was pregnant.
• I was told by a woman from India that I just needed to go see a witch doctor because they can cure anything, even a "little thing like that chromosome thing you're talking about".
• I was told that maybe it was something I ate...   
• The school told me I was my son's problem....and I quote "It`s kind of like alcoholism...if you let him be dependent on you..he will" 
• My daughter's second pediatrician. ....."She can't have FX, both parents need to be carriers and that is really rare" 
• Upon hearing that both of my (adoptive) daughters lived with involved disabilities a woman asked if I had heard of generational sin... As I looked at her with shock, she went on to tell me how God had punished people in her husband's family.  

Now that I've shared a bunch of others', I will share ours.  I want to preface this by saying our pediatrician is awesome and so good with Ayden.  I would recommend her in a heartbeat, but unfortunately she just wasn't as knowledgeable in Fragile X as we could have hoped.  I'm not sure that is all her fault, as even some of the medical journals are not up to date.  Her comment after being asked if we should test him for FX (I knew I was a carrier) "He doesn't have any of the physical features, you can wait till around 8 or 9 to get him tested"

While I don't have the time or space to debunk most of these ignorant statements above, I do want to share a little about ours.  Most FXS kids do not show the physical features until around puberty.  This includes the prominent forehead and ears as well as the longer face and large testicles.  In Ayden's case, the fact he was unable to nurse and had no real sucking reflex should have clued us in right away.  Also the high palette and low tone.  If not then, definitely when he crawled and walked late, didn't pick up much of any language and had no desire to imitate (still doesn't).  The anxiety he experienced around 7 months was also a clue, though we just thought it was separation anxiety.  Finally the spinning and hand flapping should have also been an indicator.  It is very easy to look back and see these things now, but more knowledge before would have certainly been beneficial for us.  I hope that by sharing this information here I may be able to help some other parent who maybe never has heard of Fragile X, but has noticed these types of things and maybe will find some answers.

As you may notice, today is Wednesday and no Research post.  Not only did I not have time to get through research this week, but also I have much to share with FX Awareness week.  Fear not, more research topics are coming soon!

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