“Quiet One” sometimes wise beyond her years

Throwback Thursday,  made me think of an old column, she's still pretty quiet but one awesome sister to Austin.

published October 7, 2007, The News-Herald

If you’ve followed my columns over the last four years, you’ve been introduced to my son Austin, a child living with fragile X and autism. You’ve also read about my daughter, Genevieve, the hockey player.

With this column, I’d like to introduce you to the quiet one, Natalie.

Natalie may only be 13 years old but when it comes to compassion, she can be wise beyond her years.

Although she’s younger than Austin, she’s often been his role model -- not only by just being present throughout his day but in ways we’ve staged.

When I want to teach Austinan appropriate response, such as how he might express anger or frustration appropriately, I’ve often used Natalie. I write the script, and Natalie is the star of the production. In these instances, we consider being a drama queen an important ability.

We had an incident recently in which Austin’s behavior was spiraling out of control while traveling in our van. Natalie offered to get out and walk with him, knowing it would help to calm him.

As they strolled down the sidewalk, hand-in-hand, I realized how lucky Austinwas. Not many 13-year-old girls would willingly walk hand-in-hand, in public, with their older brother.

My heart filled with pride, knowing that I, as a role model, had witnessed what I’ve tried to teach about compassion and unconditional love.

I didn’t simply drive off and leave them walking. I moved up a few blocks where I was waiting to see if they were ready to complete their trip home in the van.

It turned out that those few short blocks were enough of a walk for Austinand when they got back in the van, I started to venture into a typical mother speech. I asked Austinif he understood the importance of his behavior related to what happened.

Natalie told me “Hush mom, Austin and I already went through this”. She may not like me saying this, but she really sounded like her mother.

In a world where many people approach life with an “it’s all about me” attitude, it’s exhilarating to witness what I’ve tried to model for my children come to fruition. Life should never be “all about me”.

Life should be all about what I can do for others that might make their day a little brighter and their journey a little easier.

Teddy Roosevelt once said, “Walk softly and carry a big stick.”

I believe the world would be a better place if we used Natalie’s approach “Walk quietly and give unconditionally from your heart.”

Should I test for fragile X?

This is a question that often appears in my inbox, through different forums or alerts, it happened once again today, and I think it is important enough to address here.  As always, please feel free to share. 

My honest opinion is “YES”, here are my reasons why:

1. Fragile X is a genetic condition that may not just impact your child, carriers may have FXTAS (typically occurs after the age of 50) or females may have FXPOI (often results in early menopause which could have a huge impact on family planning).
2. Fragile X may not just impact your immediate family, it is genetic, it could impact your parents, your siblings, your children and/or your children’s children, your cousins, your nieces and your nephews, etc.
3. Having the correct diagnosis will ensure you follow the advances in treatment and research for targeted treatments specifically to treat core deficits of fragile X, treatments are quickly evolving.
4. Having the correct diagnosis will create awareness for other medical conditions that may arise you would be more likely to be familiar with “Health Supervision for Children With Fragile X Syndrome”, http://pediatrics.aappublications.org/content/127/5/994.longand  “Advances of the Treatment of Fragile X Syndrome” - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2888470/.
5. Having the correct diagnosis would enable you to participate in research studies clinical drug trials and/or non-clinical drug trials (could be related to speech, anxiety, social skills, etc.)
6. Having the correct diagnosis would enable you to seek out the experts, bi-yearly there is an International Conference where families can network with other parents and experts in the field.  2014 is a conference year and it will be in CA, more details at fragileX.org.
7. Knowledge is power, understanding fragile X, knowing it is fragile X will enable you to better determine which therapies might provide the most benefit. Knowing it is fragile X will help you understand your child better and possibly help you build his/her strengths and address his/her weaknesses.  The worst thing I’ve seen happen with my son is when in the educational environment they tried to plug him into their “autism” curriculum, which did not meet his unique needs, which only created more problems.
8. I don’t care if a doctor is or is not a neurologist, fragile X cannot be determined by just a look see. I want to choke every doctor who has ever told a parent "He/She doesn't have fragile X they don't look like they have fragile X"  or "They don't act like they have fragile X". Often doctors have little experience with genetics or as time passes what they thought they knew is now obsolete. Fragile X is a spectrum disorder a child could be not affected at all, mildly affected or severely affected.  Only the FMR1 DNA test (fragile X DNA test) can provide you with an accurate diagnosis (a chromosome or microarray analysis should not be used, it produces too many false negatives, and is only accurate at diagnosing fragile X when it is due to the deletion of the gene, which occurs in about 1% of the cases). DNA testing is evolving as well, it's very important that parents understand that a chromosome or microarray analysis should not be done "alone" to test for fragile X.  If in your results there is no mention of CGG repeats on one allele for males and two alleles for females, odds are HIGH they didn't run the right test. 
9. Local and virtual support networks are just a few finger taps away.
10. Test to rule it in or rule it out, why have something like this lurking in the background. If you rule it in move forward with connecting with others and building an expert support network.  If you rule it out, it’s one less worry that you really don’t need to worry about.

Where to learn more about Fragile X, there are numerous resources at this site - http://fxam.org/Resources.html

In the end, one very important question one must ask is what are the benefits of knowing, weighing  that against what are the risks of not knowing.

The one reason I hope many would test would be to think of their future generations, think of your daughters, your sons, your nieces, your nephews.  Far too often I’ve seen on a forum a young lady in desperation looking for information because she's pregnant and she just learned she was possibly a fragile X carrier. It could be that her family didn’t know the association between fragile X and other conditions like autism. It could be that her family suffered from Ostrich Syndrome, just buried their heads in the sand not wanting to have a diagnosis OR share a diagnosis of fragile X.  

Way to go to prepare this young lady, what a way to turn a pregnancy into a train wreck.  Think of the big picture, take a walk in this young lady's shoes, how would you feel?  It doesn’t have to be this way.  Having a genetic condition is not the end of the world, having a genetic condition is at times like being in a car accident in which you were hit from behind – There was nothing you could do to change it, what is important is how you move forward.

Fragile X Syndrome - Data and Statistics "The exact number of people who have a fragile X premutation is unknown. A recent study estimated that 1 in 151 females and 1 in 468 makes in the United States may be affected by a fragile X premutation."  http://www.cdc.gov/ncbddd/fxs/data.html

Monday - News in Brief

Austin’s hemoglobin numbers are holding steady, he’s at 13.2 again this week.  Platelets are still coming down which is another good sign, we dropped from 634 to 565.  So even with dropping his steroid dose by 10 mgs the numbers are very good.  Tomorrow we will drop the steroid dose by another 10 mgs, we will be down to 30 mgs – we’ve never hit that number yet so hoping all goes well. The lowest dose he’s been on was 40 mgs prior to the Rituximab treatments and when his numbers dropped down to 7.6 we had to bring the dose back up. 

The weekend was a busy one, plenty of time for friends and family.  While I worked the Winter Jam at Joe Louis Arena, Gen was in Ohio for Hockey and Natalie was working so Austin and Dad had a Men’s night out.  Dad let Austin pick where he wanted to go to eat and he picked Polonus, a Polish restaurant, we were just a little surprised.  He seems to be a little more adventurous in food, he also likes a local Mexican restaurant a lot.

His eating is still non-stop throughout the day and I just try to manage it the best I can without creating problems. Today I'm doing a little shredding while pulling kitchen sentry duty, we recently purchased a shredder and my to be shredded pile is huge, I've got old taxes going back far too many years, even back to the days when I worked (filing cabinet has a lot more space since I just filtered through what could be shredded).  At least while the shredder is under full-warranty I'll give it a good workout.  Not a very exciting life, eh!

Mom, Dad, Austin and Genevieve scheduled a long overdue visit with Meme and Pepe on Sunday. This was the first time we had the opportunity to visit them at their new apartment.  I’m thinking on a warm day I could really enjoy their balcony, very good size with a nice view of the river and the car ferry from Amherstburg to Bob-Lo island, we’ll have to wait and see how obstructed the view will be when the trees are in full bloom. We had a nice long visit and sadly the women didn’t do too well in cards, next time we’ll turn that around.  I always have a couple of drinks with my lovely Canadian Mum (MIL) and as I watched her make a couple I do understand why I always leave feeling a little tipsy J, I’d get two fingers of Canadian Club to her one, oh well makes for a relaxing ride home. 

Courtesy Wipe

Don’t get me wrong, for the most part I like technology, but I think technology goes in the wrong direction when someone decides that technology needs to think or make decisions for me.  It might be as simple as an auto-correct in a software package,  a ridiculous menu option on a phone system instead of putting me in contact with a human when that’s all I want to do in the first place or the courtesy wipe when you use your windshield washer option on your vehicle. It’s all frustrating to me and I don’t think I’m alone. Thankfully most software programs will give me an option to turn on or off the auto correct, wish I could say the same for the phone menu options and courtesy wipe.  To be honest there are days I have a love/hate relationship with technology especially when technology doesn’t work – it’s just one more thing to go wrong.

Why do I need to go through three different menu options to have the option to speak with a human? Why do I have to go through menu options to pick a language? I don’t live in Quebec, I don’t live in Canada, where it is required that everything be available in English or French. I live in America where English is our language.

Although, let me digress just a little, thinking of our language makes me smile. I fondly remember a great grandfather by marriage whose native country was Italy, he immigrated just prior to WWI (yep - that’s a one not a two). When I came to know him his dialect would be considered broken English, he still had a very heavy Italian accent even though he’d been in America for well over 50 years.  My parents would take him out weekly for dinner, one night they were out at a Chinese restaurant and in his broken Italian-American accent he commented on how poor the server’s English was, almost like it was a disgrace. I guess in the end it’s all a matter of perspective Jand maybe he heard something different than we did.

Two of our Ford vehicles are 2011 or older and my biggest peeve with both vehicles is the courtesy wipe associated with the windshield washer fluid.  In my book that would be one idea that I think should be nominated for the worst idea ever.  

I’ve been driving for over 40 years and when I choose to use the washer option to clean my windshield I believe I’m adapt at determining if my windshield requires an extra swipe from the windshield blades. It’s at my fingertips, easy to accomplish. I’m frustrated that some engineer sitting behind a desk decided at one time to make this decision for me not even knowing what my windshield even looks like.  I’m not sure where this person resides, what their climate is like but they are definitely not seeing what I’m seeing.   Dearborn, Michigan might be Ford Country but this engineer must be from out-of-state.  In my world, my environment (lately windshield washing is often required) this is simply the dumbest idea ever.

When I picked up the Flex there was no hesitation when they asked me if I wanted the courtesy wipe on or off, “OFF” just couldn’t have leaped out of my mouth any faster and I almost wanted to scream it. Learning that this is now an option on newer vehicles leads me to believe that I’m not the only one who has had this peeve.

We’ve got thunder snow going on now and because of technology I won’t be doing laundry until its well past, just a small part of my love/hate relationship with technology.  Seems like everything we own or purchase nowadays has a system board and system boards typically don’t respond well to power outages.  I was out of a washing machine for six weeks once all because of a thunderstorm, a power outage while the washer was running, a system board and a repairman inept at diagnosing problems, making repairs and doing a quality check to ensure the repairs worked. On more than one occasion he changed something, said you’re all set, and before he even got out of the City of Wyandotte I was on the phone, fuddling through the menu options to tell them the repair didn’t work and having to wait another five or seven days before they could return. After the second time I didn’t let them leave until I did my own quality check, and that was a good thing because once again the washer came up with the same error.

So give me technology (that works), give me upgrades but most importantly give me a choice, that’s all I really want. It’s that or I’m going to have to move and live in the mountains somewhere with no technology. On some days a couple of candles, a wood fire and a good book I can hold in my hands slowly turning the pages sounds pretty amazing. 

And the gold medal goes to …

Austin, numbers are looking good. It was a busy morning for Austin and me.

We decided to do our blood draw at Wyandotte early hoping the results would be turned around by the time we had our appointment downtown Detroit at 9:30 a.m. Thankfully, this blood draw only took 25 minutes, almost half the time for last week.

At downtown, while I was waiting in the room with Austin, before the doctors came in, I had the results in my email inbox.  Hemoglobin is up to 13.2 (very good normal is 13.5 -17) and his Platelet count is starting to come down (he peaked at 741, this week we’re at 634, normal is 150-450).  Both results are doing what they want them to do - hemoglobin up, platelets down.

I asked the doctors when we will know if this has really worked, when will we know if we would need to go through more rituximab treatments or would there be other treatments required.  Didn’t get an answer because they told me they couldn’t answer those questions, we can only wait and see. Darn those physicians, I wish they had a better crystal ball.

Our big focus now will be reducing his steroid dose, he’s on 50 mgs a day which is on the high side. He’s eating ALL the time.  The first words out of his mouth in the morning, every morning, is “What’s for dinner?”  He weighed in this morning at 169 (he’s put back on all the weight he lost, he was down to 152, and then some).  In January we took the dose down to 40 mgs but his numbers took such a dive we brought it back up to 50 mgs.  Tomorrow I’ll start him on 40 mgs a day again and we’ll have to wait and see what happens with the numbers next Monday

I have managed to filter in some healthier snacks such as yogurt, apples and bananas but the kid wants to eat every 30 minutes and if I’m not in the kitchen area who knows what he’ll eat or how often.  Genevieve busted him on Friday for Doritos (stuff mom doesn’t buy but dad does.) I had gone to pick her up from school and when we got back the tell-tale sign was all the orange around his mouth and on his fingers.

I was amazed how easy it was to slip MiraLax into his Juicy Juice to combat the constipation associated with the Rituximab treatments.  When we were in the hospital there were a few things they wanted to slip into a drink for testing or what not that he always picked up on and wouldn’t drink. Now if I can only get his rash from the vaccine to go away I’d be really happy, the doctor feels that the steroids are slowing that healing process.  His face is much fuller as well, it’s like it never went back to its original size.

We’ve been fortunate that the steroid dose has not impacted his behavior, I’m quite surprised, his behavior overall has been very good.  I’ve actually cut his Paxil dose down from 10 mgs to 5 mgs and I think I will eliminate it all together (we went on the Paxil, along with our 10 mgs of Abilify, the first of November to try to reduce some of the anxiety centered around the holidays, holidays are well past and he’s doing well so I really want to take one med out of the mix.)

So now, we’re thankful all is going well and we’ll just have to take it one day, one week at a time, we’re at more of a cross country pace rather than feeling like we’re in a luge run J.

Ben Franklin

Yep, I’m thinking of old Ben today, he was pretty wise, a couple of his quotes that come to mind are:

Time is money

In this world nothing can be said to be certain, except death and taxes.

I’d like to bill Wyandotte Henry Ford Hospital for my time.  They had a system that worked very well and then they had to change to the Epic System a new Henry Ford Health System program, which the end result was only a waste of time for me this morning.

Our simple blood draw which should have taken about 10 minutes under the old system took 50 minutes this morning, all because of their system upgrade. The process is no longer streamlined, point A check-in, point B go to registration (with a long wait to get there),and point C go to out-patient testing. They added point B for every week. Even though we were registered in the new system last week, we had to go to registration again this week. We had to wait for all those before us (who were never in the new system to be added, which is a much longer process than for the person who is in the system), only to see a registration clerk who needed to pull up Austin’s record and click one button so we could have our blood drawn. They did apologize for the wait, I did ask to talk to a supervisor only to note that this new system isn’t working. I did apologize to the registration clerk, noting that I know it isn’t her fault but management needs to understand how this new system is impacting their consumers (customers). 

Management blamed it on the fact that they had to re-register all the individuals for out-patient tests in the new system.  Really, with today’s technology someone couldn’t have figured out a way to transfer that information over? If you can’t and if you know you’re going to have to do a lot of new registrations during this period, you know it’s going to take longer, how about staffing for it?

I want to be able to walk in, check-in, and have it noted I’m in the system that I’m already registered and go directly from point A (check-in) to point C (out-patient lab work), I don’t need to wait 45 minutes for someone to click one little button. I want it to be as streamlined as it was two weeks ago before the system upgrade (which should be called a downgrade).

Really, it doesn’t take a rocket scientist to figure this out, just look at your lobby, the number of people waiting and then look at the out-patient testing area where there was never more than one person in the waiting area, and they were probably there waiting for someone to complete their test, someone that they took in for testing.

I’m seriously thinking of changing the later of the two quotes: "In this world nothing can be said to be certain, except death and taxes, and if something works well don’t worry someone will make it inefficient."

Since I’m a glutton for punishment when I did get home I decided to start our taxes, I just keep telling myself happy thoughts, happy thoughts! 

Austin, who has often struggled with waits, transitions and changes once again amazed me, he managed well.  I think he had his eye on the prize at the end, I promised him breakfast.

By the time I navigated through our taxes our results were in.

Hemoglobin is now 11.9(up from 11 last week) and I think it’s a good thing that Platelet count is finally under 700 (but that may not mean much since I’m not a trained medical professional I don't know, it was so high above normal I just think a drop is good). White blood count is back in the normal range which I also interpret as a good sign.  

It will be nice not to have to go downtown to the chemo room this week. We follow up with the doctor next Monday (I might just skip the Wyandotte Hospital blood draw since I know we’ve got to go downtown anyway, my own kind of streamline). Hopefully, I’ll have a better picture of what the future (short and long-term, when it comes to Austin’s medical needs) will look after this doctors visit.  I'll be pleasantly surprised if we have those answers, just my reality lately. 

In the meantime, I’ve got to stick to Austin’s playbook, today is today, and it is a good day (now that I’m not waiting J).

Capt. America was in the house last Thursday, last treatment, he was blowing me kisses.

Please hold ....

With the Monday CBC results we topped our highest high, hemoglobin is 11.  Only hoping it will continue to be stable, this I want to hold. Our last Rituximab treatment is this Thursday and yes I’m looking forward. What will the numbers look like two weeks from now, three weeks from now? That will be the true measure that it’s working, that the treatment is effective.

I’ve spent most of the day Monday holding, yep I’ve got the standard lines down pat:

•         All of our representatives are still busy assisting other callers, please remain on the line and your call will be answered in the order it was received.
•         If you would like to wait, please remain on the line. 
•          If you would like to leave a message please press 1.

Well I really don’t want to wait and my call is only returning your call, would it be rude if I place you on hold once you pick up the line, hmmm…  Now that was really a silly thought since they never picked up in the first place. 

My biggest problem is that this was the second “business” day I’ve tried to resolve issues.  I did take care of one today - for a co-pay for Austin’s psych which should have been billed as a “no-copay”. If they would do things correctly there would have been no need for this call if they would have done their homework on Friday there would have been no need for me to make a second call

I’m still arguing our ER copay of $150 for Austin’s visit last Monday (was on hold with the 4^th call during the day, after 22+ 15 minutes I gave up and pressed 1). I’m at issue with this charge because the ER visit was a direct result of a vaccine they gave him that morning, when the reaction appears late at night the only option we have is an ER visit.  I know, whine, whine, and whine.

Thank goodness for speaker phones at least I could multi-task a little, something the existing generation will never truly appreciate; they don’t have to experience cradling a phone, attached to the wall between your shoulder and ear – our kids have it far too easy J.  I’m not sure if the waits are my biggest gripe, or it’s the number of times I’ve been bounced around, Wyandotte billing to HF Main Hosp to Billing to Wyandotte billing to Wyandotte Patient advocate to Wyandotte Billing (that was the last 25 minute wait which  I gave up on). Customer service is directly tied to that person behind the phone and so far they aren’t delivering. I’ve done so much bouncing yesterday from one person to another I feel like Tigger.

Austin and I are back downtown at the Henry Ford main campus.  They are doing his red blood cell tag scan, took his blood at 7:30 will tag it and re-inject it around 9:15 am and then do the scans.  This scan will identify if there is possibly any part of his spleen still functioning in his body.  Not sure how quickly they will turn around results, it is what it is, we’ve become experts at waiting.

Song for today, Song for tomorrow, Austin’s theme song:

Pharrell Williams - Happy (Official Music Video), http://www.youtube.com/watch?v=y6Sxv-sUYtM, I think this works so very well, it sets such a positive tone for the day.

“If you don't like something, change it. If you can't change it, change your attitude.” ~ Maya Angelou

I like Austin's shirt he picked for the day, gotta love Reptar

Update: Naturally I missed my call again from Wyandotte's billing while we were out this morning.  After school pick-up I decided to go through the process again which went much more smoothly than yesterday.  Bottom line, they are doing what I asked them to possibly do the other day which someone told me it couldn't be done (I really need to do a better job of taking names and numbers) -  bill medicaid.  If Hap will pickup all but $150 of the charges why can't Medicaid pickup the rest? Who knows how this will turn out, I still have an issue with the charge in the first place because the ER visit was a direct result of the vaccine booster, in my spare time maybe I should do some letter writing. 

Pictures of the Scan, Austin did absolutely wonderful, still waiting on results.