First day in the "office"

My boss has decided it's time to get an office. The funny thing is it's in his previous house he was unable to sell a block away from my house. We hired an office manager who is going to work out of said house until we decide we don't have room for anymore people in the house. I'll still be working from home. I can't leave my kids, until maybe Jason is in school and then it has to be flexible enough that if any of the kids call me with a medical trauma that I can be there immediately. I guess I'll be working for Joe for a long time. Unless of course my husband gets a huge raise? Probably not.

There are huge benefits in working for the state. But there are also disadvantages as well. Great benefits, lovely retirement, pretty much set wages. Oh well, life goes on.

A Case of the Mondays

I really hate Mondays! I swear I have a panic attack every week, Sunday night before I go to bed. I miss my hubby and the help he provides. I hate that the work week has started and I'm going to get nasty phone calls from everyone under the sun! I hope for the day when my hubby makes enough money that all I have to worry about is keeping my family and myself happy!!!! I don't think it will ever happen really, but one can dream!

Now that I've done my complaining, bring it on!!!!

Tori Update

I took Tori to see Dr. Bernstein this morning and they took her patch off. It was not nice, a nasty way to wax if you ask me. The patch was pretty bloody and goopy but her eye is looking pretty good after it was cleaned up. The doctor said it was still a bit foggy, but that would clear up as the week goes on and then they will see how her vision has improved next friday. She does have a stitch from the cataract portion of the surgery that will have to be removed next Friday. That should be a blast!!!


I asked here if she noticed a difference in her vision which she promptly said no. They did the vision test though and what she wasn't realizing is she just had surgery and she needs time to recoop. Her acuity before she had the surgery was 20/120 with her corrective lens in her left eye. It looks like it is now 20/100 right after surgery without correction. As the day has gone by she has noticed a difference in her vision. I'm excited for her ability to recover so quickly. As we speak my little trooper is outside playing with her big brother in the neighborhood. I think I would be lying on the couch whinning!!!

Here's my beautiful girls!!!

Tori's Cataract Surgery

We just got home after Tori's third surgery on her left eye.

We got up bright and early, 5:00 am, and drove in the snow to check-in. Yes, I said SNOW. We hung out a while and waited for the doctor to check her vitals and make sure she was OK for surgery. We then ran upstairs to have the A-Scan done on her to see what size lens she would need to be implanted. After that it was a little more waiting and then they came and got us.

The Moran Eye Center is a no nonsense kind of place. They have the surgery thing all down! We got Tori changed into her gown and then the anesthesiologist and nurse came in to administer the IV. We had to fight Tori a little bit on this, she was old enough to let them put the IV in without the gas so we decided to not bombard her to much with meds. They did the IV and they gave her a little Valium. She was loopy within 5 minutes. It was pretty funny.

Dr. Bernstein then introduced us to the surgeon who would be taking care of her Cataract, Dr. Majid Moshirfar. He double checked her orders and then swept her away into the O.R.

It didn't take to long and Dr. Bernstein was out letting us know that all went well! Her Cataract was gone and he did a partial Vitrectomy to clean out the remaining vitreous and the blood clots that were left over from the previous surgery.

Her recovery was a bit longer this time, but we knew that she had gotten a little sick last time so we wanted to take it slowly. She woke up and we tried to give her some ice chips and a popcicle. She did ok for a minute but then lost her lunch. The nurse gave her some anti-naseau meds and she dropped back off to sleep. She did really well after waking up, and we took her home.

She's awesome! She did really well and I'm always impressed with how much praise the Doctors and Nurses have for my little girl. She is so well behaved and does so well in these circumstances it's amazing. I'll let you know more about the lens and how her eye is doing tomorrow!!

Jason

Paula our lovely PIP rep from the school for the deaf came to our house tonight. Jason was a bit of a grump at first but he always warms up when Paula comes over. He seems to have made some progress from the last time we saw her. I'm pretty sure he says "night, night", it come's out "na, na" but I'm almost positive that's what he means. He will give you his hand when asked for it and he goes to the van when we tell him to. Baby steps.

Our assignment for the next two weeks is to commentate his life. I guess the more we talk the more he'll hear and the more he'll start communicating.

For example "Jason is standing up on the back of the couch and he is going to fall and hurt himself."

"Momma is frustrated because Jason won't stop turning off her computer in the middle of working."

"Jason is crying because Samantha and Tori won't leave him alone."

"Jason is happy because Daddy is playing monster with him."

It's a little silly but hopefully it will help. It at least will be entertaining!

Poor Sam

Over the weekend my lovely handy husband built us a new hand railing. It was this awful black rod iron railing in my front room. Brett spent all weekend building a beautiful replacement.

That's just the opening to this blog entry. =)

Because Brett was building the railing, the front door was open. All the kids were playing in the front yard, including the baby. Duncan and Tori like to smother Jason in attention when he's outside so they were having a grand old time, and Samantha came inside crying.

Sam: "Mom, they were mean to me again. They are always mean to me."

Mom: "Sam, I didn't hear anyone being mean to you."

Sam: "Tori yelled at me. She said, 'not you Sam!'"

Mom: "Honey, Tori wasn't yelling at you. She just asked Jason to climb in the stroller."

Sam: "I used to be the cute one, and now Jason is the SUPER cute one. They always give him the attention now!"

Poor Sam and the displacement of having a little sibling. I guess she'll just need some more hugs and kisses.

Disneyland!

We just got back from Disneyland. My mother-in-law and father-in-law gave us a trip for Christmas. It was so much fun to go with cousins and grandma and grandpa. We flew into California on Sunday, we dropped our luggage at the hotel and went straight to the park. I love Disneyland, but I now need a vacation from my vacation. Here's a few pictures from the park. I've got more but they had to be downloaded on Brett's laptop so that we had enough memory for the rest of the trip.


Samantha about to ram into someone with a potato bug.
Tori after riding Grizzly Bear Rapids.
The kids at Goofy's Kitchen on Duncan's Birthday.Jason escaped from Grandma and into the water fountain.Duncan at Goofy's Kitchen on his birthday.More playing in the water fountains.Daddy getting wet for Jason's sake.

Jason's Hearing Aid

Paula came over to our house tonight after having spent about a month in Africa. She's awesome. She brought Jason a couple of finger puppets and brought the other 3 some awesome drum pencils. She doesn't have to do this, but she loves my kids.

She always goes to the most recent trainings and has been attending classes that are specifically about the unilateral hearing loss. She said that some new studies have found that a child with a loss in the right ear has a harder time then a child with a loss in the left ear. She's trying to find out the specifics on what that entails because that is the ear that Jason has the loss in.

She also has asked us to up the time that Jason wears his hearing aid to try and get him wearing it all the time. He did really well tonight and wore it about 3 hours straight. Then when I got comfortable with the idea that he might leave it alone, he put it in his mouth. The only reason I even noticed it was the high pitched buzz that was coming out of his mouth. We will be going on vacation soon so I'm hoping we will be able to use the time to focus on his hearing aid and keep him distracted enough so that he forgets that it's there. We'll see what happens though.

Silly Stuff

I spent last night making two silly hats for my oldest daughter. She told me that she needed two costumes for a play that they are giving at school. Her teacher is really into the creative part of the kids so she encourages them to do all sorts of stuff in the classroom. Tori's friend always takes the easy costumes that she knows she already has at home. Tori can be a bit of a pushover. So it's my job to come up with a mouse and horse costume. I decorated a couple of those foam sunvisors. They turned out OK. Hopefully she liked them.

Samantha was supposed to dress up like a dalmatian. HUH??? So I took a white turtle neck that she doesn't like to wear because it's to tight and sewed felt black spots on it. The weird things we do for our kids. Hopefully someday they will appreciate the work, but it probably won't be until they have children of their own.

Being a Mom

I hate the time change!!! My body doesn't adjust to it like the kids. They seem to be ready to go after only a few days of the difference. I was up until 1:30 am last night. Not good for me when I'm home with the kids all the time. Being a mom can be rough, which I'm sure I'm preaching to the choir.

I complain to my husband (a lot, maybe too much) about being a stay at home mom.

Me: "At least you get to go to work and deal with grown ups."

Hubby: "They all might as well be children."

I finally came up with the difference. "If you are mean and ornery to your co-workers they think your a Jerk! If I'm mean and ornery to the kids it's child abuse."

Ya, stay-at-home Motherhood can be tough but well worth the price. I don't have to worry about where my kids are, I know. I'm here when they need me, and am able to run at the drop of a hat if the kids have a problem, illness, school or whatever. However, sometimes it's good to get a break!!!! Pedicures are a beautiful thing!!! Something I need to get more of!!

Dr. Appointment #3

Since Jason didn't pass his hearing test in either ear I took him over to the instacare after his nap and he does have an ear infection. So, he'll be on an antibiotic and hopefully the next time I drive clear out there he will be able to at least pass as a healthy kid. =)

Appointments and working

Well, I had 2 appointments for the kids today. Tori had an appointment with Dr. Vincent at the Moran Eye Center. He was checking her eye to make sure that a contact would work for her eye shape. She is a perfect candidate for the contact so they are ordering her contact in the correct prescription and they will call me when it comes in. Then we will have to go out and see him again a week after her surgery and see how she is doing with the contact.

Jason then had an appointment with the audiologist at USDB to have another hearing test. His ear was plugged again and his hearing was quite a bit worse then the previous test. His right ear is moderate to severe hearing loss right now and his left ear is mild to moderate. Which means that all my "Jason, Jason, J-J, Jason....." Isn't doing a dang bit of good. Oh well, we'll try again in a month.

In the midst of this I got a phone call about work. I deal with doctors and there is one in particular that I would like to punch in the face. I know this is a little extreme but he's horrible!!! The biggest problem for me is that I work at home. So I'm trying to be the good and kind mother that I should be, while fuming over the latest email for Doctor Jack-@*! Oh well, hopefully he'll just go away.

Starting the Paperwork

Well, the person over the VIT teachers called me in to get the paperwork signed to test the girls. She seems very positive and willing to help. It sounds like the girls will have two teachers, to teach them braille. Tori is stoked and has asked me quite a few times recently when this will start. Samantha isn't quite as excited so we'll see how long she lasts.

Once our paperwork is signed they are legally required to have this going in 45 days. We will be having an IEP meeting sometime in April. Keep you posted.

Video

I took some fun Video of the kids the last little while. Thought I would share.

There's Jason at the table. How did he get so big?

Then there's my boy's playing cars.

Next would be my Stinker!! He does this kind of thing all day!!!

Samantha is learning to read really well! There is a couple of her reading.

Dizzy Boy

Jason has hit another milestone. He loves to spin. He makes himself fall down all the time!! It makes me giggle!!

He's also starting to try to speak. He'll try to copy you, which is new. He'll also play a little of the "where's your nose" game. I swear nothing happens and then they leap forward!!!

Sticklers Syndrome

I've had a lot of people asking about what my kids get to cope with. Here is a bunch of stuff from the Mayo Clinic website. As well as a youtube video produced by the Mayo Clinic that also helps explain what my kids have. The video is a less complicated in explanation then the reading. It's all very interesting. Enjoy!

Definition

Stickler syndrome is an inherited disorder than can affect multiple parts of your body, including your eyes, face, ears, heart, bones and joints. The cause of Stickler syndrome is a gene mutation that affects the formation of a connective tissue called collagen. The condition is also called hereditary progressive arthro-ophthalmopathy.

Stickler syndrome is named for a Mayo Clinic doctor named Gunnar Stickler, who described the syndrome in a young boy in 1960. Stickler syndrome is usually diagnosed in young children.

If your child has Stickler syndrome, treating the signs and symptoms can help your child manage the disorder and live a more full, productive life.

Symptoms

The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — vary widely from child to child. A combination of these signs and symptoms are common in children with Stickler syndrome:

• Severe nearsightedness. This common condition, also called myopia, is a vision disorder in which you can see near objects clearly, but objects farther away appear blurry. Children with Stickler syndrome are often born with severe nearsightedness.
• Eye problems. Several conditions, including clouding of the normally clear lens of the eye (cataracts), increased pressure in the eyeball (glaucoma), and tearing of the tissue at the back of the eye (retinal detachment) may be present at birth or occur later in children with Stickler syndrome. These conditions may impair your child's vision or, in some cases, cause blindness.
• Altered facial features. Children with Stickler syndrome often have a somewhat flattened facial structure with a small nose and a slight or absent nasal bridge. These altered features often become less distinctive with age.
• Hearing difficulties. The extent of hearing loss varies among people with this condition. The hearing loss associated with Stickler syndrome tends to worsen over time.
• Excessive joint flexibility. The ability to painlessly extend the joints beyond the normal range of motion is a characteristic of people with Stickler syndrome. As your child gets older, any extreme joint flexibility will likely lessen or disappear and your child may develop achy, swollen and stiff joints.
• Scoliosis. Scoliosis, an abnormal curvature of the spine, may be present in children with Stickler syndrome.

Other signs of Stickler syndrome may include slender arms and legs and long fingers.

When to see a doctor

Having Stickler syndrome increases your child's risk of serious eye complications. Call an eye specialist if your child experiences any of the following symptoms:

• A sudden onset or increase in floaters — tiny bits of debris floating in the eye that appear as clumps or strings
• Flashes of light in one or both eyes
• A shadow over a portion of the visual field
• A sudden blur in vision

These may be symptoms of retinal detachment, a serious eye condition requiring immediate surgical repair.

If you have Stickler syndrome and would like to have children, consider discussing your family plans with a genetic counselor. A genetic professional can explain how your disorder is inherited and its implications for your children, which may help you make informed personal decisions.

Causes

Autosomal dominant inheritance pattern

Stickler syndrome is an inherited disorder caused by mutations in certain genes involved in the formation of a protein called collagen. Collagen is the building block of many types of connective tissues, which support your body's internal structures.

Genes are segments of DNA that "code" for all of your characteristics — including traits you can see, such as eye color, and traits you can't see but that can affect your health, such as the propensity to develop high cholesterol.

You receive your genes, which occur in pairs, from your parents. One half of each pair is inherited from your mother, and the other half is from your father. Some gene pairs can be made up of one dominant gene and one recessive gene. In these instances, the effect of a dominant gene "masks" the effect of a recessive gene. This pattern of inheritance is called autosomal dominant inheritance. If a dominant gene is mutated — as in the case of Stickler syndrome — disease may result.

If you have Stickler syndrome and your partner does not, the chances that you'll pass the condition on to any of your children is 50 percent. Rarely, people may develop Stickler syndrome without inheriting a mutant gene. In these cases, Stickler syndrome results from a random mutation in one or more of your genes. It's not certain why random gene mutations occur.

Risk factors

Sticker syndrome is an inherited disorder. If you have Stickler syndrome and your partner does not, your child has a 50 percent chance — or a probability of one in two — of developing the condition.

Complications

Some of the more severe complications of Stickler syndrome may develop in your child's eyes:

• Glaucoma. Glaucoma refers to an eye disorder characterized by pressure building within your eyeball. Increased pressure pinches the nerve that relays the signal for sight from the retina to your brain (optic nerve). Untreated glaucoma will eventually cause blindness.
• Retinal detachment. This is a serious eye complication resulting from Stickler syndrome. Retinal detachment occurs when the thin layer of tissue at the back of your eye (retina) pulls away from its nourishing collection of blood vessels, called the choroid. If left untreated, blindness will result.

Other potential complications include:

• Deafness. The hearing loss associated with Stickler syndrome may become more severe over time and can eventually result in deafness.
• Osteoarthritis. Swollen and painful joints may indicate that your child has premature onset of osteoarthritis, a condition in which the cartilage in the joints deteriorates. In severe cases, hip or knee joint replacement surgery may be necessary to replace your child's damaged joints.
• Ear infections. Children with facial structure abnormalities are more likely to develop ear infections than are children with normal facial features.
• Difficulty breathing or feeding. Children born with facial abnormalities that include an opening in the roof of the mouth (cleft palate), a large tongue and a small lower jaw (Robin's syndrome), may experience difficulty feeding or breathing.

  Tests and diagnosis

  Your doctor may suspect Stickler syndrome based on a combination of the following signs and symptoms:

• Eye abnormalities at birth. Eye examinations help detect eye problems that are often present at birth in children with Stickler syndrome. These include a clouding of the normally clear lens of your eye (cataracts) or a defect in the jelly-like material (vitreous) filling your eye. Severe nearsightedness may be observed in older children who take vision tests.
• Impaired hearing. Your doctor may use a test called an audiogram — which measures your ability to detect different pitches and volumes of sound — to determine whether your child has experienced hearing loss.
• Altered facial features. During a physical exam, your doctor examines your child's face for features specific to Stickler syndrome — a flattened facial structure, a small nose, and a slight or absent nasal bridge. Some children also have a series of facial abnormalities that include an opening in the roof of the mouth (cleft palate), a large tongue and a small lower jaw.
• Excessive joint flexibility. Your doctor may stretch your child's arms and legs to determine the extent of his or her flexibility. If your child has Stickler syndrome, he or she may be able to extend the arms and legs beyond the range of motion that is comfortable for most people.
• Mitral valve prolapse. Mitral valve prolapse, a disorder in which one of your heart valves doesn't close properly, has been reported in people with Stickler syndrome. Your doctor may detect this condition while listening to your child's heart with a stethoscope.

Molecular genetic testing may be used to identify the mutant genes associated with Stickler syndrome, but it's not commonly used to diagnose this disorder. However, it's occasionally used to confirm a suspected diagnosis or for prenatal diagnosis.

Samantha Update

I took Samantha to the eye doctor today. She's doing really well. Her right eye continues to get stronger with the patching that we have been doing for 1 hour everyday. She doesn't like it very much but it could be worse. One of my friends daughters had to wear a patch 8 hours a day for a year. YUK!!

Her Retina's look great and we don't have to go back for another 6 months.