Tuesday, April 1, 2014

April is Autism awareness month...

....and I plan on posting every day some aspect of our lives living with a child with autism. There is a lot of stigma regarding autism. Some correct. Some not. My hope is by the end of this month you are more knowledgable about the ups and downs and myths and facts surrounding autism and the families affected by this mysterious disorder (I hate that's what it is called...). 

In the meantime here is a picture I took the other night of Ella after she had fell asleep. I love watching her sleep. She looks so peaceful and not struggling at all to be understood. 

Tuesday, January 14, 2014


When Ella was a baby we started with an fantastic OT for feeding issues. That changed to other issues as she got bigger. Eventually she graduated because for an almost 3 year old she had met all of her goals that EI (early intervention) had given her as far as OT and PT were concerned. 

Fast forward 2.5 years and here we are again. Before Christmas Ella was officially evaluated for OT services again. Partly bc of her extremely low muscle tone and the fact that her pediatrician suspected that she had SPD (sensory processing disorder). Some symptoms of SPD include falling down a lot, low muscle tone, and not feeling pain. Ella has all 3 of those symptoms. 

Today we got the results of her testing. While I suspected she was behind I was not expecting to be told that she has basically regressed to a point she was at before she achieved all her goals during EI. Ella tested at the level of a 34 month old. She will basically start getting OT weekly until she meets her goals again. They will be reassessing her again in 4 months to see where she is and if her goals need changed at that point. 

Like her old OT pointed out to me it could be that she regressed at some point in the last couple of years or she could have simply not progressed once she met her goals in EI. 

Here's to hoping therapy helps turn things around for her quickly!

If you would like to learn more about SPD here is a link for you to explore. 


Friday, January 3, 2014

Talk about confusing....

I knew last night that I would not get a lot of sleep due the anticipation of what would or wouldn't happen to Ella today.  It was no surprise considering I have been battling insomnia like no one's business for the last month.  The dreaded C-word will do that to a person.  This is kind of complicated and confusing but I will do my best to break it down for you as quickly as possible.

First of all this bone disorder is complicated at times by itself.  The actual name of the bone disorder is multiple osteochondroma (osteo-con-dro-mus)----thats not a real pronunciation...I created it to help you pronounce it if you want to know how.  With a normal child when they grow their bones grow in length usually.  With ella or someone with this bone disorder the bones grow in length but they also grow out (hence the tumors) which is what causes a person with this bone disorder to have a shorter stature.  We were also told some interesting news with this disorder.  With her dad his mom found his first tumor when he was 2 and he had his first surgery when he was 5.  With a normal child with this disorder the first tumor is discovered between the age of 4-6 and the first surgery is between age 10-12.  Her dad was an extreme case.  He has more tumors than he can probably count.  With this disorder you can have just a few tumors or you can have dozens like her dad.  There is no way to know which end of the spectrum she will fall on.  Only time will tell.  Now since we have that out of the way, on to how her appointment went today....

When we saw Dr. Tony today he scanned her spine and both arms to check for more osteochondromas (aka benign tumors).  He found a few more.  She has a total of 9 between her right arm and both legs around her knees and on her knees, but not counting the suspicious spot on her left wrist.  None of them appear to be big enough to need removing right now.  We will know when to remove them when they start to cut into her tendons and muscles and possibly nerves and blood vessels.  His plan is to monitor her every 6 months and go from there.  There is a ped. ortho dr in Michigan that he knows and he is going to ask him what his suggestions are as far as how often to X-ray her and check up on her.  For now though we are going with every 6 months.  This will eliminate the problem of knowing when to remove them especially given the fact that she does not feel pain.

As far as the white spot on her left wrist goes we do not have a lot of answers....He did say this he is 99% sure it was not from an old injury and here is why.  First of all there are 2 bones that run from your wrist to your elbow...if you hold your left arm out as if you were looking at your wedding rings the bone on the outside is the bone that can be broken by itself bc it is the stronger bigger bone and takes the brunt of injuries to that section of the arm.  The  bone on the inside is not as strong.  He said it is extremely rare (he has never seen it in his practice) where the bone on the inside is broke without the bone on the outside being broken too.  Also the X-ray done by her pediatrician in November, the X-ray done by Shriners last month and the X-ray done today in his office all show the spot being exactly the same.  If it was an injury that spot would have gone down as the bone healed.  That has no happened.

Now there are 2 possibilities as to what this spot is....because it does look markedly different from the tumors she has he is not sure if it is another spot that she has or if it is bone cancer.  Now, I know that sounds scary but let me explain.  When ppl think of bone cancer they think of someone who has some form of  cancer...lets say breast cancer, and it spreads to the bones making the person's life most certainly fatal.  With a child who has bone cancer it is much different.  It is rarely ever fatal.  They could go in and biopsy it and see what it is and she would be in a cast for several weeks or we can take the less invasive path (which is what we are doing...).  We are going to monitor it.  As she gets  bigger it should go down if it is cancer.  Much like the size of a scar you got at 2 looks much smaller now then it did when you were 2.  If it gets bigger it would be indicative of it being another tumor and will be monitored just like every other tumor she has already.

Speaking of the tumors....we are not removing them right now because with this bone disorder if they remove them now they will just grow back so why put her through surgery until it is absolutely necessary?

At any rate that is the extent of the update for today.  For today we wait.  Until such time we feel we need to not wait.  Now lets hope I get a lot more sleep tonight!!

Thursday, December 19, 2013

Despite her struggles ....

...in her short life Ella is always happy! And she is always eager to make you laugh! This girl is going to be a comedian someday! 

This was taken this morning. She insisted I take a picture of her pretty blue and pink hair lol. 

Wednesday, December 18, 2013

Remember the low muscle tone?

Well I promised I would come back to it and here is where I do that....

Ella has always fallen down a lot.  She constantly has bruises all over her body.  I often joke that someday her pediatrician will all OCY on us because of them, but the fact of the matter is this girl is clumsy!  She falls down all the time.  Whats more is that these falls do not phase her in the least.  You see Ella does not feel pain.  At her Shriners appointment last week her BCM was with us and witnessed this first hand.  She saw Ella fall off of a chair and hit the ground head first. The normal child would have screamed from the get go.  Not Ella...she laughed like you were telling a joke.  Then she looked at me and saw my reaction because to be honest she hit her head HARD!  That is when she started fake crying.  

When she was 4 she had an EMG done.  This test was painful for everyone I have talked to including her dad.  When Ella had the pads placed on her and shocked she did not cry.  When they placed the needle in her and shocked her she was fine.  When the tech took the needle out Ella saw the tiny pin drop of blood and this is when she freaked out!  

This has a point I promise....Ella was evaluated for OT  services because of her apraxia and her falling down ALLTHEFREAKINGTIME!!!  It was determined this week that Ella will get OT once a week at the Achievement Center.  They will be treating her for sensory processing disorder.  For those unaware three symptoms of SPD are falling down a lot, low muscle tone, and not feeling pain.  All of which Ella has.  With any luck the OT can help her with her coordination and help her strengthen her muscles.  That is the goal at least!! 

She has a what?

Here is basically the same post I posted to fb just to have it documented here.....

Ella has multiple osteochondromis. It is the same bone disorder that her daddy, Darrell has. A disorder that he was told would never be able to be passed on to his kids. A year ago this past August we thought this might be a possibility because she wasn't walking at daycare well and when taken to the ER we found one tumor. We were told it is quite common to have one tumor but it wasn't worrisome and come back if it seems to bother her. Fast forward to her 5 year check up. She only grew a 1/4 of an inch. They like to see at least 2 inches of growth a year. So her dr ordered an age scan on her and a referral to shriners. The age scan showed that she is fine in that respect but she had what we were told was 'an old injury'. Today at Shriners we told all this to them and they decided to do some X-rays including of her wrist. They x-rayed both of her legs and her left wrist. She has a total of 5 tumors on her legs when a little over a year ago she only had 1. There is no doubt in this drs mind that she has the same bone disorder as her dr. This is similar to cancer. They are tumors but they will never spread altho the tumors can and most likely will grow they will never spread and will never be a concern like that for her and although there is a small chance that the tumors will turn into cancer the risk is small.

The concern for her at this point is pain. How much pain will this put her in? Well those that know Ella know that she doesn't feel pain. A year ago she had an EMG. When they put the probes on her to shock her muscles she didn't flinch. When they put the needle in to shock her, again she did not feel pain. When they took the needle out she freaked out about the pin drop of blood on her leg. We always thought this was a curse. Today after getting this diagnosis I think her not feeling pain is a blessing! This bone disorder causes her dad insurmountable pain. Perhaps we can spare her that much! She will need surgery. When we do not know. We just know that with this disorder comes surgery. A lot of surgery. Usually when they get to be bothersome. The tricky party with her is we are unsure how we will know when she is at the point that she cannot handle it any longer. This is something we need to address.

In addition to all this when they did the X-rays the tumors look like shadows next to the bone. This is what was looking like an old injury. The dr at shriners said it is absolutely not an old injury. The X-ray of her wrist is white and looks to be actual cancer not a tumor.

The next step is a second opinion from Darrell's ortho dr who we trust with our life on January 3. After that we will determine what the next step will be. If it is cancer on her wrist the next step will most likely be Pittsburgh to talk to their oncology department. If it is not cancer we will just try to figure out a game plan for knowing when these tumors should be removed.

She's litte, she's cute. She's strong....she is a fighter!!! Here's to hoping she can pull her resources to fight this with everything she has!!! Please pray if thats your thing, or positive thoughts...whatever it is that you do so we can figure out a game plan and do whats best for her!

Expressive Language disorder, Apraxia and PPD-NOS and so much more....

We knew from an early age that Ella was going to be behind in many areas.  Speech was a huge area for her that required much attention.  She was diagnosed with severe expressive language disorder and apraxia.


Apraxia was described to me as this....its like a drummer who is messing around on the drums.  When he plays something he really likes he goes back and tries to duplicate it...but cannot!  This is how apraxia is for Ella.  She can sometimes pop off with a word here and there but when she tries to duplicate that word she struggles.  hard core!

Fast forward to Summer of 2012.  I was working in a camp for children who are high functioning on the autism spectrum.  I grew to realize that Ella was a lot like the other kids.  Ella would line toys up, freak if you disturbed her lines, hated not being a routine...etc.  I decided to have her tested to see if she was on the spectrum as well.  Her ADOS testing came back borderline.  The testing was also done at 8am.  Because I was working the camp I talked to the director of the program and he suggested having her seen by a specific psychologist at the Achievement Center.  When we saw this woman it was in the evening and Ella showed a lot more 'autistic tendencies' that we see her do at home.  She was color coordinating things, lining things up, becoming agitated if the routine was disrupted.  She gave her a diagnosis of PDD-NOS - provisional.  Meaning she would have the diagnosis but she wanted to see 6 months of data to support the PDD then she would take the provisional off.  The problem with this is the insurance wouldn't approve a BSC to get the data with the provisional on and the psychologist wouldn't take the provisional off without the data.

It was then that we sought out another psychologist who did more testing on her and determined that she did in fact have PDD-NOS and even gave her the diagnosis without the provisional on it to ensure that she gets the help that she needed.  At that time her BSC noticed that Ella wasn't even trying to say words even if we knew she COULD say them.  A lot of this was self conscious issue.  In the last year Ella has went from saying nothing to saying many things and even saying short phrases such as yesterday when she said 'whoa mama big!" referring to the snow mounds outside of her prek.

This basically concludes the 'background' information on Ella to get you caught up on her history.  This is just an overview.  I am sure there are other things that have gone one medically that have slipped my mind but these are the basics....if you have any questions feel free to ask :)