Tuesday, December 8, 2009

Ashley on the upswing after surgery

Well, Ashley has been doing pretty good since her surgery 6 weeks ago. Now that things are healing, we're getting a better idea of how things are. She had a post-op MRI on Monday, and you can definitely see the different, although even the doctor commented at her 3 weeks post-op that part of her foramen magnum had already grown back.

Occasionally she holds her neck even if she doesn't say boo-boo our "ouchie" she'll just walk around holding the back of her head, so we're hoping it is just soreness still and nothing more than that.

Sometimes she grabs her left knee and says boo boo, but that could be just because she's walking more now. She is so much more mobile now:o) She is starting to run a bit and she is the cutest when she dances. She does this adorable mix of twirl, booty bounce and ballet. She sees it all from her sisters (although I don't encourage the booty bounce) but she looks really cute doing it:o) I'll have to snag some video and post it.

Oh, and last night we were playing that song "I can only Imagine" and she stood there doing these little dips and movements with her hands and arms. Her big sister Autumn loves to do this song in sign language and even though she can't do all the signs, she tries to follow her sister and when the song came on, she just went right to it.

She's gotten so much older lately, she's pronouncing her sounds better, singing out of nowhere sometimes, adamant on brushing her teeth before her noon time nap now, and just being a "big girl" She can understand things so well, her comprehension skills are so good and we love when we tell her something and she says "otee" (O.K.)
I always have loved being a LP mom, but it seems I keep finding myself more and more just watching her in awe and loving every cute little thing she does:o)

Friday, October 30, 2009

Benefit for "Give Reilly a Lift" Cause

We are running a Special Benefit This weekend at http://lilashleyscloset.etsy.com
50% off proceeds from ALL HAIR FLOWERS will be donated to Reilly's family to help raise money for a much needed van for Reilly.
More Info http://reillyslift.blogspot.com/
Please join us in this cause at Facebook Causes "Give Reilly a Lift" to help this wonderful family.

Sunday, October 25, 2009

She's Back:o)

Well, Ashley is just about back to normal. She has learned to slow down and it has helped a lot, but definitely something she had to learn herself. We kept telling her a few days after surgery to slow down when she walked, but she would get excited and try to start running like any normal 2 yr old, only to fall, and say "owies" There have been a LOT of kissing boo-boos these last couple weeks.

When she was in the hospital, it must have taken them a few tries to get a good vein because she has a mark on every foot and hand. If we ask her if she has a boo-boo, she holds both hands up & sometimes her feet to be kissed. Her demands are getting less & less though now that she's on the mend.

One thing that has changed a lot since her surgery is her kyphosis, it seems to have virtually disappeared. We're not sure if it's because she has been walking for a few months now or if the extra room in her spine in helping, we'll see what the surgeon says on her follow up. Speaking of, that's actually next week, should be sooner, but her Dr. is really booked up. We expect that she will have a good report. Here are some pictures of Ashley's day. She was in such a good mood in the morning. Since she could have clear liquids, jello worked, so we had home made jello for breakfast, so it wouldn't be so hard on her during the rest of the day to fast. She fell asleep in the car ride to the hospital as but as soon as she realized where she was that happy mood vanished as she snuggled her Daddy.
We were with her as soon as she started waking up, this is our first glimpse of her in recovery.

So here she is later that evening, I'll need to fix my date/time on my camera because this is one of the cheezy smiles she threw us just a few hours later.

Tuesday, October 13, 2009

Ashley's decompression surgery went great!

Over all we have to say what a relief and miracle this whole situation was, God is Good!!! The surgery got started almost 2 hours late. They waited to take her blood and cross check it until after she was relaxed in the anesthesia to make it easier on everyone. She did very good, but knew something was up when she opened her eyes when we got there.

We had woke her up earlier than usual in hopes she would sleep through the fasting and not be so hungry which worked well, but when she saw the blue uniforms, her eyes got real big and she wouldn't take her eyes off every nurse that walked in the pre-op room. She had a little oral medication to relax her so when we had to hand her off, there wasn't a lot of fear like she has had before.

They came and updated us 3 times through out her surgery letting us know each step pf the way where it had progressed, then the Dr. came out. Mike asked her if she found what she was expecting to and she said " yes, everything and more, she was a mess"

Instead of a "pinching" that were were previously under the impression of the Dr said that the bone of her foramen magnum was actually "digging" into her spinal cord. She had to remove a section of bone nearly 3" around. We though that was a lot, but she said if she didn't becuase Ashley is still in growing stages, that it would have grown back over the area.

She also had to remove her C1 vertebre (the top bone in the spine under the foramen magnum). She said there was also a part of her skull that had formed a point where the bones meet at the base of her skull that had actually pierced the Dura (the "skin" around the brain between the skull and brain) Thsi was causing pressure on her brain and said there was a lot of bulging in her Sinus (basically the blood supply of the brain) When she shaved that point off the bone it relaxed immediately and she sewed up the hole that the piece of bone had pierced through.

So overall, it was worse than we had expected, but truly a miracle that she had even got to the point she was without any obvious symptoms. Dr Gilmer -Hill did a wonderful job and said that she is much safer now. Although there will always be the risk of damage as anyone with achondroplasia, she is not placing her on any "no can do" lists. She said, ballet, dance, even gymnastics would be ok, but no contact football, which I doubt she'll be doing anyway being that she is quite the little lady:o)

We were right there when she started to wake up and she signed Daddy and said Mama even though she was confused. She moved her arms and legs upon request, started signing more and ate some crackers and juice while enjoying little einstiens. It was amazing how alert she became after just a few hours. She even thew us some big cheesy smiles. I'll have to wait until tomorrow to upload them as Mike has the camera to catch more of her tonight.

Another early day tomorrow thank you so much to everyone for checking in on us all and sending your prayers and thoughts. We will continue to give updates on her progress.

Monday, October 12, 2009

Today's surgery..Thank you all for your prayers

Well, we're off to the hospital soon. Ashley's surgery is scheduled for 2pm today. She had a breakfast of home made apple juice jello. We tried to get her to drink some chicken broth for more nutrients but she wasn't having any of that! We should have opted for the pedialite. Thank you to everyone who has send kind words and prayers our way. We are praying for the best. Mike and I have it seems emotionally had to shut down a bit and cannot think about the what if's. We are trusting in The Lord that He watches over our little Ashley and being thankful for the peace of mind. We are so thankful that Ashley is too young to understand what is going on right now, and we are taking the burden and thoughts from her. I couldn't imagine being a grown adult and knowing this had to be done, thank God for youthful innocence!

Tuesday, October 6, 2009

Surgery update

ok, well, this has been an eventful last few days. I had called pretty much every ped neuro in my state as well as every specialist in head, neck & neuro on the LPA website to no avail. Nobody wants to give an opinion without seeing her in person and the soonest appointment I could get with anyone was the 29th which is too late. It's really hard to get past the receptionists and referral offices to get to a nurse even, let alone the actual Dr.....very frustrating!

I was tickled pink when I got a call back from Dr. Carson's office yesterday and they referred me to Dr. Jallo who actually does the decompression surgeries. She said they could not help me there but he may be able to. The secretary at Dr. Jallo's office out of John Hopkins said if I forwarded the pics to her she would forward them to him which I did yesterday morning, but have not heard back from yet. But even better news since then.

Thank you so much to the ladies who have taken time to give prayers, advice and help with research. Alex, once again I cannot express my gratitude to you for helping me get in touch with Peggy and Dr.Pauli. I just got off the phone with Peggy again and she and Dr. Pauli looked over Ashley's MRI photos and said they completely concur with my ped neurosurgeon said. Dr. Pauli's response to hearing Ashley's upcoming surgery is on Monday was "good" because they feel the same amount of urgency that our Dr. has. So as much as we don't want to put her through this, it is definitive that it needs to be done as soon as possible.

I asked about another MRI and Peggy said "absolutely not" so no such luck on waiting to see if results show the syrinx is stable or not. It is covering such a large part of her spinal cord that it is imperative it is done now.

The one thing that confuses me is when I had first looked at the MRI's I thought the white spot near her foramen magnum was the syrinx, but our Dr. said it was "high points" distressed" points. Peggy said that white spot is actually her syrinx, so I'm confused about that. I'm going to look again at the photos and see if I may have mis-understood, but either way, surgery is a-go for Monday the 12th, only 6 days.

Poor Ashley has no Idea what is coming:o( She is so happy and lighthearted I just hate to have her go through this, but the risks are far greater if she doesn't. The scary thing is, these tests were done over 4 months ago and they are telling us do it immediately, we're so thankful something hasn't happened already and I'm quite a bit ticked off at the hospital for not sending the results to my Dr. to begin with.

We should have never had to chase down results that were this serious!!! Somebody really dropped the ball on that one, but on the other side, God has his timing for everything and obviously it was meant to be found now. We can at least be thankful we had the MRI done when we did.

From now on, I will not let regular or even specialist Drs tell me NOT to get a test done on Ashley that I feel is needed. This should have been done 2 years ago and my ped-ortho, neurologist and pediatrician all advised us not to because the sedation could be more damaging that what they would find. That will NOT be happening again!

We know that no matter what Ashley is in God's hands and we trust that He will watch over the surgeon's mind and hands and fix our little Ashley. In the mean time, we need to get our heads together to figure out what preparations need to be made.
****** New update*** Our neurosurgeon just called, it's 8pm, that's impressive, and she explained things again and I mentioned our concern about the fact that the MRIs were taken 4 months ago and that it could be worse, and her exact words were" it could not have gotten any worse in this time or she would already be paralized" so that confirms the urgency , but also gives us peace of mind that it has not gotten worse. But yowza, to think her spinal cord is this close to something so detrimental reminds us again, the miracles God truly can work because she is still here and walking around like there is nothing wrong.

Friday, October 2, 2009

These are Ashley's actual MRI photos, they show the areas of concern except for the syrinx, that is kind of hard to spot in comparison to the stenosis and "high point" a.k.a "distress" within the spinal cord. The syrinx is actually a thin skinny line that runs down her spinal cord beginning between C2 & C3.

The area that is having the pressure is right up there under the foramen magnum by C1 vertebre.

Update: Ashley's MRI & Surgery

I'll just start from the beginning on this, so everything is understood, this is the situation with Ashley

As some of you know, she had an MRI of her head and neck done just as a baseline so if she developed future problems that we would know where she was at this age in comparison. I finally (after 3 months and several phone calls to the pediatric orthopedic Dr's office finally got a response about her results. Since they had not contacted us we had figured there was nothing to worry about, but we wanted the results anyway.
The doctor finally called me back a few weeks ago and hit us with the news that Ashley had "Foramen Magnum Stenosis" and a "Syrinx" also known as syringomyelia and she needed to go see a neurosurgeon to determine how bad it is and what our next move should be.

So we got the earliest appointment we could with the neurosurgeon and we went yesterday to see what her opinion on everything is. We had done a lot of research on this prior to the appt and we were expecting the Dr. to tell us that it was only a minor issue and it was something we could monitor until symptoms started to show.

To explain what these are in the simplest terms is: The foramen magnum is the circular shaped bone at the base of the skull that connects all your top vertebre (spine) to your skull. Running through that hole is your spinal cord. your spinal cord connects all the way to your brain and down to your lower back and controls movement.

Around your spinal cord there is cerebral spinal fluid. This fluid runs all around your spinal cord and up around the brain and back down and flows constantly and cushions your spinal cord and brain . Kind of like the way your blood runs through your heart as our life force, the cerebral spinal fluid is the same for your spinal cord.

The problem that a lot of achondroplasics (people with Ashley's form of dwarfism) have is that the hole (foramen magnum) is not circular shaped, it is more like an old fashioned key hole and can be shaped differently because of the way their bones grow differently than ours.

The problem with having that hole smaller is that it can cause not enough room for the spinal cord essentially "pinching" it and of course leaves little room for the cerebral spinal fluid to flow. This is the problem Ashley has. This normally does not cause problems until achondroplastics are into their 40's and 50's and can cause pain and numbing in extremities because of nerve damage. Ashley is in the 1 out of 1000 people who have developed this at 2 1/2 years old.

She is too young to tell us if anything hurts and if it does, since she was born with it she wouldn't know any better because it would be normal for her. Our only way of really knowing if there is a problem is by the MRI pictures.

Now...... The "Syrinx" to give the exact definition is: A syrinx is a fluid-filled cavity within the spinal cord (syringomyelia) or brain stem (syringobulbia). Predisposing factors include craniocervical junction abnormalities, (foramen magnum stenosis in Ashley's case) ,spinal cord trauma, and spinal cord tumors. Treatment includes correction of the cause and surgical procedures to drain the syrinx or otherwise open CSF flow.

So that last bit was really medical words, so in our terms a "syrinx" is essentially a cyst inside the spinal cord. It is formed when the cerebral spinal fluid is restricted and cannot flow properly and has to end up somewhere, and in Ashley's case, it is starting to build up within her spinal cord.

The problem with a syrinx is that over time the fluid build up causes damage to the spinal cord because there is only so much space that it has and each part of it serves a purpose. So the fluid being in there causes pressure and essentially damages the spinal cord which then leads to poor function and numbness etc......

So, now that we have out, here is Ashley's issue. They cannot just go in a drain the syrinx with a needle or shunt because it is not the main problem. The problem is the tightening around her spinal cord that is causing it to begin with, therefore the tightening around her spinal cord (foramen magnum stenosis) is the problem that needs to be addressed.

Ashley not only has the tightening, but it is so bad that is has causing what they call "high points" or "distress" on her spinal cord at the base of her skull before the issue of the syrinx. If you look at the MRI, you can actually see white spots within her spinal cord that cover almost 70% across in one spot that is actual tissue damage. There is a little bit of spinal fluid moving on one side, but at the back there is very little and her spinal cord is literally being pinched by the bone.

The doctor told us the prognosis for Ashley is definitely having the decompression surgery done and that Ashley's condition is in her words "serious, it needs to be done ASAP, she would not even wait until November because with as mobile as Ashley is if she were to be in a car accident or even fall and hit her head hard enough it could paralize her"

The procedure for relieving the pressure off the spinal cord is called "foramen magnum decompression surgery"
Basically the long and short of it is they go in with whatever tools they use (that I don't even want to imagine) and cut the bone (foramen magnum) around her spinal cord so it has room and is no longer being pinched. It is essentially neurosurgery.

So......our baseline MRI just to check things out turns to neurosurgery consultation to indefinite surgery for Ashley, and she has an opening in her schedule for Monday. Mike and I were very much taken back about all this because we were expecting her to tell us, it's ok, lets just monitor it, instead we get, this news and the thought of neurosurgery in a few days.

I called the surgery appointment scheduler and even though the Dr said she could do it on the 5th or 12th, the surgery scheduler said the Dr doesn't even do surgery on those days, so apparently she moved whatever else she normally does to fit Ashley in so soon. Well, she just called this morning and said she could not get a time slot for the Dr, to use the hospital on Monday and it will have to wait until the 12th of October. So that gives us a couple more weeks to do more research.

We are very pulled between jumping head first into this, getting more info, a second opinion, a second MRI to see if God has healed her, and really seeing if this is really necessary. From what the specialist said it is something that is inevitable and her question to us was, "how long do you want to wait, and if you do, what will the damage be" The spinal cord does not fix itself, damage is damage, so how far do we want to research this and drag it our before we make a decision.

She is scheduled for surgery on the 12th of October. In the mean time, I am going to call every neurosurgeon I can find and try to get another opinion before then and talk to as many pediatric neurosurgeons on the Little People of America website I can find to get their opinion.

Well, we did even more research last night and we have prayed about it and we understand the urgency that the doctor is telling us, but there is also information stating that sometimes these can spontaneously start working great themselves and that some doctors can be too quick to do the surgery which itself is not without different complications. There is s lot of info I am finding on the Little People of America site and have tons more to do as well as talk to different doctors.

We need God's wisdom at this point and want to do whatever is in His will for us, because we know whatever happens it is in HIS PLAN, and timing, not ours. We are leaving it is His hands and we will be doing as much research as we can before the 12th and keep everyone updated. We would prefer to have another MRI, but then we are torn between putting her under sedation for the MRI to get the same results, worse, more urgency or a healing. We know that He can heal her if it His Will, but we also know that sometimes His Will is not ours. We just are praying to keep stable heads and make the right choice for her.

In case you're wondering who this doctor is, she is the Chief Pediatric Neurosurgeon at Beaumont, graduated from Harvard has several years at both U of M and Univ of California specializing in neurosurgery and is board certified and has a ton of accredidations, she is one of the top in her field and knows her stuff, but we also know God heals and at this point we only want His Will to be done for His purpose. I am thankful they could not get us into the hospital on Monday, that is our first sign, let Him work in His time. We will continue to do updates to keep everyone in the loop

Friday, September 11, 2009

Ashley's MRI Not Good

OK, I need to vent.....I just got off the phone with Ashley's Pediatric orthopedic doctor, who finally got back to me after the results of her MRI spinal scan done in May. I figured that since they had taken so long to get back to me that everything was ok. I started calling for results a few weeks ago..again, and the woman who was supposed to get the message to the doc doesn't work there anymore, so her info got lost in the middle.
So anyways, I get a call from him today and he said she DOES have foramen magnum stenosis AND a syrinx between C1 & C2 in her spinal cord! I am a little flippy right now. I'm trying to stay calm and I'm about to do some research to find out what this means and what the process will be.
He referred Ashley to a neurosurgeon.....never words a parent wants to hear!!! Ok, I'm off to meditate, hold my daughter and research. From what I already know a syrinx is a collection of fluid in her spinal cord at the base of her head. My guess is it is due to the stenosis of her foramen magnum, but I'll have to research to know all the full details. It is not however hydrocephalus because that is fluid build up around the brain, so we'll see what this says, hopefully it is something minor that will not require surgery. I'll be praying for that. I set up an appointment with the neurosurgeon for the 8th of october which was the earliest they had, so now it's on to the waiting game. Lord willing I can find some info to calm my nerves in the mean time.

Wednesday, September 9, 2009

So Ashley had her first day back of speech and physical therapy this morning. It was so nice seeing her instructors again, some new, some gone, but all in all very nice. She was her usual shy self and wanted nothing to do with the boys in the class. Probably just because they are bigger than her or she knows boys play rougher.
She didn't talk much or at all for that matter, although she did do a couple please and thank you signs. I don't know that I've ever had a child clam up so fast in public, yet be so exuberant at home. When we came home today we practiced her flash cards that she enjoys and the following video is Ashley in action, full of her little personality.

Tuesday, September 8, 2009

Our First Sale Special at Lil' Ashley's

Yaay, I'm tickled, we're moving in the right direction and having our first sale this upcoming weekend over at Lil' Ashley's Closet
Free Shipping Worldwide *PLUS* BOGO Half off our new Flower Hair Pieces:)

Thursday, September 3, 2009

Ashley's Walking & Minidance

Here are a couple videos of Ashley walking and getting her minidance on:)
She starts her physical/speech therapy next week and her play group the following week. She was just starting to warm up to new people when school ended last year, so hopefully it won't be back to square 1 this year and she will pick up where she left off. She is such a shy child around new people, yet so full of character at home. I always wish others could see her personality like we do. It's great to be able to catch it on video though:)

Her vocabulary is getting a lot better, she will repeat just about anything you say to her. My favorite words are yellow and purple, they just sound so cute coming from her:) She has definitely learned the word "no"and knows exactly how to say it with purpose when she means it, especially at bed time. We've learned not to ask her if she wants to go night night and just say very soothing that it is time to sleep and that tends to work really well.

I'll keep up on the posts as school starts, mom has got to get some work done now:)

Saturday, August 29, 2009

Life Resumes Ashley Walks!!

Well, the wedding was absolutely beautiful and the honeymoon in Sedona was Fabulous! Just before the wedding, Ashley got up the confidence to go from a few steps at a time to cruising like a pro! I've been busy working on my Etsy store making new things. Our wedding was almost completely DIY, so I took on a lot of new things I didn't kow I could do. So our main goal right now is getting Lil'Ashley's Closet up and running officially . I believe we will have our Grand Opening for her website in October. It's open now, but not really up & running officially yet.

So, on with the pics...The babies were pulled by PapaJo in the wagon. Dani was our Jhonny on the spot
Twins loving thier dresses we made
Ashley taking a little breather after lots of walking around everybody in the pre-wedding business
All my brothers and sisters were in our bridal party. This was the first time we were all back together in the same state on almost 12 years! All 9 of us
A sweet moment with my husbandAutumn & Arielle, 2 of our flower girls, Ahsley was the third.We havn't got all the pictures back yet, just a few sneak peaks, but there will be more later. I have to go through and find some of her early step videoas amongst all the other. Hopefully I will have it done soon. Here is our Etsy site, but we're I'm working on her .com site this month!
Here is our Etsy site. I will post the other when we have our grand opening!
Etsy: Your place to buy & sell all things handmade

Friday, June 26, 2009

Wow, I've been slacking on this blog

I have been so busy I have not done an update in 2 months...shame on me! Update on Ash, well she had her adenoid & ear tube surgery, let me just say, NOT a good week for her. She had a bit of a sinus infection going into it, but that was normal for her. If we waited until her nose stopped running, she would probably still not have had the surgery. The surgery went great, very quick no major complications, she was playing with her little bro & I later that day.Wow, I just realized I look like the one on anesthesia in that pic...lol Anyhow, the next morning, OMG, never in my life have I ever seen a nose like that!!! As gross as it was I had to take a picture, it was unreal. She had a puddle almost 6 inches around on her pillow under her poor little nose. And yes, it was thick and connected to her pillow.
As the days started going past, her nose & eyes started swelling along with a 104 temp. I called the doctor and he said just give her tylenol,(which she hated!!) She managed to learn the trick of gargling and spitting it out. So I had to get crafty and give it to her when she was sleeping. Amazing how children have a natural reflex to swallow even if they're sleeping. So anyway once after I think the 3rd day post-op she woke up and looked like her eye would be swollen if we didn't get something for her. This time the doc ordered a script of antibiotics and she slowly got better.

So , now after all is done and the healing is done, it's been a couple months. She has been saying more words, she's expressing her self a lot better, and she is minding better, I think she can actually hear us now:) She is blossoming into such the little angel. She is such a ham around the camera and she knows she is cute:) She has really taken to books lately too, she LOVES to read. Especially after her surgery all she wanted to do was snuggle & read. She's so cute, she will point to a book and say "beeya" It is a cross between book and read. As many times as we repeat "book" to her, she still says Beeya. She loves the counting books, she doesn't pronounce the words, but she points and says "da" on each thing she points to with the cutest inflection in her voice.

She had an MRI a month later, and we should be hearing back from the ped ortho doc. soon. I had him take x-rays of her because of her out-toeing. I think it has something to do with her stability in not walking. We don't push her, she'll do it when she's ready. She just likes to show off sometimes and stand on her own and walk a few steps, just to see us get excited. It's like she says "ok, I'm gonna show off a little, but that's all you get" The most she has done at a time is 9 steps, besides that, she is content to crawl around or walk along the walls.
So that's about it on medical issues, basically she is doing great. Now, lets see if I can keep this up before another 2 months goes by. In my defense, since March, we've had a move, a triple birthday party, several doctors appts, (they are doing genetic testing on our newest little boy too) a weddign to plan for August and starting a new buisiness. Which I might add I will officially launch our grand opening after the wedding so I can be sure to keep up with things. Every last minute the kids don't need me seems to be spent making dresses, jewelry or flowers for the wedding. Although I'm rounding the corner, now that I just finished the twins dresses. Speaking of, I just have to show them off. We designed them exactly how they wanted them and they were this week's project, glad to have them done. Today I have to start Ashley's dress, then after that it will be Jr's tuxedo, of course in between I have to finish making the bridesmaid's jewelry and the clay and ribbon flowers for the bouquets. Busy, busy, but I love it!

Thursday, April 2, 2009

Ashley's Speech & eartubes

So, we've been busy with a move this past month although doctor's appointments have not stopped. Ashley has been doing wonderful with her sign language and is gaining new words in her vocabulary daily. She just started a playgroup as well as speech & physical therapy a couple weeks ago and she absolutely LOVES it!! She is still shy around other people, but last week she did say a few words to other teachers besides myself, so she's warming up to the new atmosphere. She has class twice a week and gets excited before we go. I asked her the other day on the way there if she was excited to go to school and she said "play" so we're looking forward to watching her blossom in the weeks and months to come.
In the last month she's been to see her pediatric orthopedist who wrote a prescription for a MRI at my request, although I am a bit worried. I have spoken to some other mom's of lp ( thanks Tonya) and have set my mind more at ease about it so we'll schedule it soon. He did x-rays for the first time since she was born and doesn't see a concern with her kyphosis or her out-toeing as of yet, so we'll continue to monitor, especially if she continues not to walk. She's been so close for months and we can't figure if she just gets along so well without walking or if it's a confidence thing. Suppose she'll walk in her own time.
She's been back to the ENT for fluid in her ears and the nasonex isn't helping even though she's done a month of it so we're opting for the ear tubes because she is at such a crucial stage of development with hearing and speech we don't want to have her fall behind. The ENT also suggested reduction in her adnoids, but a very conservative approach, so we'll be scheduling the ent surgery soon too. We were really hoping not to have her sedated so young, but we've been very blessed to have been able to avoid it so far. So that's the latest update, whe I get more situated I'll look forward to catching up with everyones blogs.

Friday, January 30, 2009

Terrible two's??

Ash is growing in her personality daily, she's always been a very happy child, full of smiles, and still is as long as she does not hear the word "no" Go figure she does not like to be told no. She used to be so cute when we'd tell her no, she would stop and just fall forward in her flexible sitting position and bury her hurt feelings in the carpet with a pathetic cry. It was almost tempting to tell her no, just to watch her cute reaction. So anyways, we've always given her a lot of freedom in the hopes that she'll get used to everything, before she's walking and tempted to touch more things. But, now she's learned there are new things she LOVES to get into. In the last few days her new favorite things are organizing the dvds, and pulling all the diapers and towels out of their drawer, oh, and she found the candy drawer, oh, and she really likes all the pockets in my scrapbooking bags. She really likes my grandmothers peanut butter cups and my glitter pens:) So now, when she hears the word "no" she actually yells back. And it's not like the firm tone we say it in, it's like she's cussing in baby talk, literally telling us what she thinks of the "no" word. Now she only cries that old pathetic cry when we remove her from her object of affection, be it CDs or candy. Mike thinks it's funny, I don't encourage it, because I'm the one that gets to put it in check all day. So I think the terrible 2's are on their way....maybe, although she's such a sweetie, I'm sure it's just a phase.
On a pleasant note, she has been saying "thank you" all the time now. We never sat down and taught that to her, she's just picked it up. She's so cute when we sit down to dinner too, when everybody sits down she puts our her hands for us to hold even before we reach for her, so her sweetness far outweighs her little occasional attitude. She makes us so Proud!!!

Sunday, January 25, 2009

Talking and signing getting better

So here is more recent footage of Ash's signing. I'm proud to say her potty training is going very well, she's up to a few times a day on the potty, and she can say and sign potty, so now it's just a matter of getting her to tell me "before" she goes in her diaper..lolHer vocabulary is growing on a daily basis, it seems like she learns a new word almost every day, the newest are "dirt" & "plant" although you have to know her to understand them otherwise it's "uut" & "aat" but she points as she says them to she's understandable. Oh, and she's so cute when she rubbs her little brother on the head she always says "etul" (gentle) with the cutest inflection in her voice:)
So I know I've been saying, "she'll walk when she's ready" and I still feel that way, but she has excellent balance and has for a long time and I started remembering back when she first started standing... She has always had her feet out turned and one of her legs was a half inch longer for several months last year. It makes me wonder if her hips being out turned is doing this and if that's why she isn't quite ready to let go. It makes logical sense that this could be an issue, so the next time she sees her orthopedist I'm going to have it looked into if she is still not walking. In the mean time, she's chipper and mobile as can be in her own way!!

Friday, January 9, 2009

Catch up on Ashley January 2009

SO.. I've been real bust with my newest so I added Ashley's posts from last year, well, really 2007, but it's still early so it seems like last year. Ashley will be 2 years old in March, the day before my twins turn 11. It makes for very easy birthday parties, can't beat parties in one shot:)
She has been walking around things for several months now, but doesn't quite have the courage to let go and cruise on her own. If she has your hands though it's all we can do to keep up with her as she practically runs around the house. She gets so excited!
We are starting to potty train her and yesterday she did her first poopy in the potty!!! Me being as sentimental as I am had to get several pictures for her scrapbook which my hubby thinks just isn't right, but it's monumental for her:) I am training her baby brother at the moment too who is 3 months old, so hopefulyy she will catch on even faster because she sees him use the potty. We'll see. I'm not gonna push her.
She has always done most of her gross motor skills ahead of time on the achondroplasia chart, so we were expecting her to walk between 16 & 18 months but she has proved us differently. She has had quite a growth in her cognitive and speaking skills the last few months, so it seems her brain is in that mode. I figure the more cognitive things she learns right now the more her brain will grow in this stage and help her in the future because those parts of her brain that control learning are being stimulted. So therefor, we've decided she will walk on her own. It is definitely going to happen eventually, so we figure why not keep harboring her desire for talking and learning sign language and let that develop at it's own pace.
It seems children go in stages between physical and mental learning, so I'm sure we'll know when she switches, and in the meantime, we'r enjoying learning our new words and signs. She has excellent communication skills and a vocabulary of over 20 words right now, so we're pretty happy with that.

Ashley's Developments October 2007

Ashley’s Newest Developments
October 2007

Well, I've been busy lately and slacking a bit in the Ashley's development category so here goes.

As some of you know I posted her video of when we finally caught her first works on camera which were "Love You." She's been saying that since about 6 months. She used to say it while she was whining a bit to get our attention, but now she says it when she's really happy. For insance when we give her a teething toy, she loves that:)

She is saying "dada" and "baba" or "boo-boo" on a regular basis, and we're working on our colors now, I could have sworn I heard her say "yellow" yesterday, but it was probably just babbling. We'll see if she does it again.

She starting rolling over from front to back at about 5 months and a few weeks later she flipped from back to front.

She props up on her hands and has excellent head control since about 6.5 months. In fact she likes to throw her head from side to side when she gets excited. I refer to her as my little pitbull because shelooks like a puppy when they get ahold of something and shake it.

We just had her checked for development last week. She is physically doing motor skills of a 4.5 to 5 month old, which is normal for her. As far as cognitive skills, she is above average. As far as her talking and the way she interacts with people and is very alert and aware of her surroundings.

We are working on her sitting up on her own and can sit up for a couple seconds on her own, but she tends to go right for her feet and topple over when she bends for them. That's a new thing she just found. She has realized she has feet and toes and she can reach them, so they're quite amazing to her right now.

We took her to the ped orthopedic doctor and he said everything is as it should be, and he isn't worried about her kyphosis because it normally fixes itself as children with achondroplasia get older. Quite frankly I have a hard time with doctors when it comes to being aware of what is going on with her. I can't blame them because they specialize in so much it is hard to get someone who specifically works with dwarfism. But that's a whole new soapbox there!! Lets just say most that parents little peolpe are far more knowledgable than your average doctor, because we take the time to do the research! I'll stop, I'm opening that soapbox and now isn't the time.

Anyway, back to Ashley she has the most amazing temperment and attentoin to detail I have ever met on a child. And that's not bias opinion, anyone who knows her comments on that. I've come to a realization about little people or any extra special child for that matter......As you know that most people or children who have a "delay" in some things will exceed in others. I think that is the reason that Ashley has developed so well cognitively. Her body will only do so much as this age, so when other babies are out racing around crawling and what not, little poeple children are honing thier mental skills and developing faster that way. I believe as they get older it may even out a bit, but as for right now what they cannot do physically, their minds are overcompensating for and giving us some brilliant little babies. And that's my theory.

Oh, another thing, so I found out that the main cause of a fontanel (soft spot on babies' head) being larger is achondroplasia among other things. And that the "soft spot" that so many parents, (myself included) think/thought was dangerous is actually to better protect your child. Because a child has a soft spot it provides a coushoning like a helmet for them when they fall which is very important because babies tend to fall head first when they're learning to walk. So it's actually better for them to have a soft spot as long as they're not falling on a pointy object. So I got to thinking how perfect God really made these little bundles. He knew that they would be walking later in life, so he gave them a larger fontanel that would close later, because they will need it later. How perfect is that!!! I am so amazed at God's Perfection, it blows my mind on a daily basis. We are so blessed!

Ashley's form of dwarfism Sept 2007

Ashley’s form of Dwarfism Sept 2007

Since a lot of folks out there are not familiar with dwarfism, here is a little something about the specific type that Ashley has:

Achondroplasia is the most common form of short-limb dwarfism. It occurs in approximately 1 in 26,000 to 1 in 40,000 births. The characteristic features of achondroplasia are apparent at birth. These include typical facial features, disproportionate short stature, and rhizomelic (the proximal ends of the limbs) shortening, depressed nasal bridge, trident fingers, and differences in ossification of the spine.

Diagnosis of achondroplasia is made by physical exam and skeletal x-rays. Most individuals have normal intelligence, in not higher than "average height" people. Infants and children often have motor delays but cognitive delays are not present. A special infant developmental chart has been made for children with achondroplasia. Final adult height is in the range of 4 feet. Special achondroplasia growth curves have also been made. These should be used by the child's pediatrician to monitor growth and development.

The facial features include a large head with a prominent forehead. The midface is often small with a flat nasal bridge and narrow nasal passages. In infancy and childhood, middle ear infections often occur because of the small nasal passages and Eustachian tube dysfunction. If the ear infections are left untreated, hearing loss can occur. "Ear tubes" are probably indicated for a child with multiple ear infections. The jaw appears to be prominent. Occasionally dental crowding can occur since the jaw is small.

Respiratory problems can occur in infants and children. Airway obstruction can be "central" in origin (due to foramen magnum compression) or "obstructive" in origin (due to narrowed nasal passages). Symptoms of airway obstruction include snoring, sleeping with the neck in a hyperextended position, or apnea. A sleep study is done if these symptoms exist to determine the cause of the airway obstruction. Treatment depends on the type of obstruction. I f central obstruction is present, a foramen magnum decompression is performed (see below). If obstructive airway obstruction is present, therapy can include tonsillectomy, adenoidectomy, or tracheostomy placement.

The limbs have rhizomelic shortening. The legs are straight in infancy but when a child starts walking, they can develop a valgus (knock-knee) position. As the child continues to walk, the legs assume a varus (bowleg) appearance. "Bowlegs occur because the outer bones of the legs are longer than the inner bones. Occasionally, children have these leg curvatures corrected. The fingers and toes are short and in a "trident" position (space between the 3rd and 4th fingers.)

Infants have a thoracolumbar kyphosis in the sitting position. Since infants with achondroplasia often have reduced tone, it is recommended that they not be placed in umbrella-type strollers, jumpers, or swings that do not provide good back support since these devices may lead to the development of a gibbus or hump in the back. As the child begins to walk, the kyphosis disappears and the back assumes a lordotic posture. If a child is delayed in walking, the spine should be monitored closely for signs of gibbus formation.

Neurologic complications can occur in achondroplasia. In infancy, hydrocephalus (water on the brain)can develop. Infants should be monitored monthly with measurements of their head circumference to detest a rapidly enlarging head size that can indicate hydrocephalus. The child's pediatrician should have a copy of the head circumference curves for children with achondroplasia. Radiologic studies are indicated if the head circumference increases disproportionately or if symptoms of hydrocephalus develop. Common radiologic procedures include head ultrasound, CT scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal (VP)-shunt is placed to relieve the excess pressure.

Infants should also be monitored for foramen magnum compression. The foramen magnum is the opening at the base of the skull through which the brainstem and cervical spinal cord exit. Individuals with achondroplasia have narrowed foramen magnums that can then compress the brain stem and spinal cord. Symptoms of narrowing include apnea (cessation of breathing) and cervical myelopathy. CT-scans and MRI scans are done to examine the size of the foramen magnum.(space in your back of neck that spinal cord goes through) If a child is having symptoms, a neurosurgical procedure called foramen magnum decompression is done to enlarge the foramen magnum and alleviate further symptoms. Adolescents and adults are at risk of developing lumbosacral spinal stenosis. The lumbar spinal cord or nerve roots become compressed producing neurologic symptoms. Initial symptoms include weakness, tingling, and pain of the legs. Often the pain is alleviated by assuming a squatting position. As the condition worsens, pain in the low back or buttocks occurs. Diagnosis is made by a neurologic exam, SERs (somatic evoked responses), and CT or MRI scans. Treatment is a neurosurgical procedure called a lumbar laminectomy.

Achondroplasia is an autosomal dominant condition (see the genetics section for further details). This means that a person with achondroplasia has a 1 in 2 or 50% chance of having children with achondroplasia. However, approximately 75% of individuals with achondroplasia are born to parents of average size. In these cases, achondroplasia is due to a new mutation or genetic change. The gene for achondroplasia has been found. It is called fibroblast growth factor receptor 3 (FGFR3). Often, two individuals with achondroplasia have children. These couples are at risk of having a child with 2 copies of the changed gene or double homozygosity. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. Couples at risk often have prenatal diagnosis via serial ultrasounds. A DNA test is now also available to detect double homozygosity.

Ashley has the normal things that most achondroplastic infants have. She holds her head back to breath better. I get a lot of looks from people when we're out because she looks like a newborn and I'm just letting her head hang. In actuallity, she is pushing her head back , which strangers figure out when the come up to me and put thier hands under her head as if to lift it. People always ask, "is that comfortable for her"

She is also starting to develop kyphosis, and needs to see a specialist ever 6 months until she is 3 ys old. We measure her head circumference every couple weeks and send the results to the neurologist who keeps tabs on how quick her head is growing to watch out for hydrocephalus. We have has her checked for siezures as well as hydrocephalus, which so far, she has no signs of.

Her social skills are right on target for other kids her age, except for the motor skills, which is normal for her to have delayed development. She is the perfect little girl, with a beautiful demeanor, always smiling and content.

Ashley has Achondroplasia -First Thoughts August 2007

August 15th 2007

We were super excited (literally jumping up and down) when we found out we were pregnant again. Lots of morning sickness (about 5 months), even worse than with my twins. We had a very cautious doctor who had me checked for various things because I had my twins at 27 weeks. We had ultrasounds every other week, to make sure I wasn't going to have this baby early as well.

Well, my body started contractions at 4 months and they put me in the hospital. They said our little Ashley wasn't growing right and they might have to take her early. After a few days that time, they couldn't figure out why she was so small, because everything was as it was supposed to be. At our 26th week ultrasound the doctor noted the growth in her femur as being shorter than average.

You see, when they get the baby's weight in-utero, they go by their length of femur (thigh) bone, and their head & tummy circumference. They put that little formula into the computer and it pops out a weight. Everything was "normal" except her femur length, so at 32 weeks gestation they told us she could have a type of skeletal dysplasia.

It wasn't long before we had tons of info on Skeletal Dysplasia, and the 200 different types that she could have. By the next visit they checked her weight again and at 34 weeks, they said it was definite that she had a form of dwarfism. No big shock, we were ready and informed on the possibilities that could arise in the future. The only thing about that visit that bothered me was when the doctor told us that "by Law!!!" she had to inform us of the 3 different abortion clinics in the area that would perform a late term abortion!!!!! Can you believe it, I was so angry. I had read about this being an option, and people that abort their fetuses because of the unknown, but we would never consider taking the life of one of God's special bundles.

You see, God promised us, he would never put more on us that we can bear, and if he thinks that we can handle a beautiful child that is extra special, then we consider it a compliment of the highest! Oh, yeah, and Tuesday was the day the doctor made us that offer, She was born that Saturday:) A perfect little 4 lb 13 oz gift from God.

Now, can I say that the first time they told us something wasn't "right" when she was still a fetus we weren't scared and full of questions, NO. You wouldn't be normal if there wasn't fear and concern, but doing research and faith kept our sanity, and now we're more blessed than ever.

We know there are things we have to look out for. She is 5 1/2 months old now, and we have had her checked for hydrocephalus, and siezure disorders, both of which she does not have. She is starting to develop kyphosis (hunchback), in-spite of our keeping her well supported, but next month she will see a specialist for that to help prevent any long term effects.

She just started to roll from tummy to back 2 weeks ago and is still a bit of a "bobble head." These are normal to a child with Achondroplasia, the motor developments can be delayed due to the difference in their bones, but socially, she is right on target as an average statured child. She started smiling on cue just before she was 2 months old, and is always full of smiles and giggles now. She has recently started grabbing at things that she wants as well, and everything goes right to her mouth:) She is just starting to lift herself up a bit when she is on her tummy too.

The LPA has a book called "Raising a child with Dwarfism" which we found to be an excellent resource. There is a story about Holland, that has proved to be a perfect picture of the feelings new parents may have. I would suggest this to any new parent who is opening this new door in their lives.

As far as her older sisters and everyone else in the family, there was a little shock at first, followed with open arms and lots of questions. For you new parents that are just learning about your little one having a form of dwarfism, remember, how you feel about it and present it to others is how they will feel about it. Personally, we feel it's really cool that we have a special child and we won the baby lottery:)