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:)