No Longer Undiagnosed

Hi everyone. We got Sonya's DNA test results in today. I'm very shocked to say the least. Her geneticists have found her to have a Osteogenesis Imperfecta with type 1 collagen deficit. They haven't pinpointed which type just yet. There are 4 types of OI that involve type 1 collagen mutations that she will be tested for. The other 4 types of OI do not involve type 1 collagen deficits. Her geneticists know of one other patient with the same gene mutation as Sonya's and that person has type 3 OI, one of the most severe types. They can not say definitively if this is the case for Sonya without further testing. I am worried to say the least, over her new found diagnosis. So far though she is proving to be a very strong and delightful little girl. We have our next visit with our geneticists at Children's Hospital of Philadelphia on February 18th and we have our next appointment with Dr. Ain and our new geneticist (for a second opinion) Dr. Julie Hoover Fong on May 15th.


Here is some information that I have found on the OI Foundation website describing the 4 types of OI that Sonya may have:

Type I

~OI Type I is the mildest and most common form of the disorder. It accounts for 50 percent of the total OI population.

~Type I is characterized with mild bone fragility, relatively few fractures, and minimal limb deformities. The child might not fracture until he or she is learning to walk.

~Shoulders and elbow dislocations may occur more frequently than in healthy children.

~Some children have few obvious signs of OI or fractures. Others experience multiple fractures of the long bones, compression fractures of the vertebrae, and chronic pain.The intervals between fractures may vary considerably.

~After growth is completed, the incidence of fractures decreases considerably.

~Blue sclera are often present.

~Typically, a child’s stature may be average or slightly shorter-than-average as compared with unaffected family members, but is still within the normal range for the age.

~There is a high incidence of hearing loss. Onset occurs primarily in young adulthood, but it may occur in early childhood.

~Dentinogenesis imperfecta is often absent.

~OI Type I is dominantly inherited. It can be inherited from an affected parent, or, in previously unaffected families, it results from a spontaneous mutation. Spontaneous mutations are common.

~Biochemical tests on cultured skin fibroblasts show a lower-than-normal amount of type I collagen. Collagen structure is normal.

~People with OI Type I experience the psychological burden of appearing normal and healthy to the casual observer despite needing to accommodate their bone fragility.

~The absence of obvious symptoms in some children may contribute to problems at school or with peers.

~Significant care issues that arise with OI Type I include gross motor developmental delays, joint and ligament weakness and instability, muscle weakness, the need to prevent fracture cycles, and the necessity of spine protection.

~Family members should carry documentation of the OI diagnosis to avoid accusations of child abuse at emergency rooms.

~Treatment with bisphosphonates is not routinely recommended.

~The treatment plan should maximize mobility and function, increase peak bone mass, and develop muscle strength. Physical therapy, early intervention programs, and as much exercise and physical activity as possible will improve outcomes.


Type II:

~OI Type II is the most severe form.

~At birth, infants with OI Type II have very short limbs, small chests, and soft skulls. Their legs are often in a frog-leg position.

~The radiologic features are characteristic and include absent or limited calvarial mineralization; flat vertebral bodies; very short, telescoped, broad femurs; beaded and often broad short ribs; and evidence of malformation of the long bones.

~Intrauterine fractures will be evident in the skull, long bones, or vertebrae.

~The sclera are usually very dark blue or gray.

~The lungs are underdeveloped.

~Infants with OI Type II have low birth weights.

~Respiratory and swallowing problems are common.

~Macrocephaly may be present. Microcephaly is rarely present.

~Infants with OI Type II usually die within weeks of delivery. A few may survive longer. Cause of death is usually respiratory and cardiac complications.

~OI Type II results from a new dominant mutation in a type 1 collagen gene or parental mosaicism. Similar extremely severe types of OI, Types VII and VIII, can be caused by recessive mutations to other genes.

~Genetic counseling is recommended for parents of a child with OI Type II before any future pregnancies.

~Significant care issues that arise with OI Type II include obtaining an accurate diagnosis, getting genetic counseling, the family’s need for emotional support, and management of respiratory and cardiac impairments. Infants with OI Type II who can breathe without a respirator and those with severe OI Type III may be candidates for off-label treatment with bisphosphonates. At this time, pamidronate (©Aredia) is the only bisphosphonate that has been studied in infants who have OI. Treatment research is ongoing.


Type III:

~OI Type III is the most severe type among children who survive the neonatal period. The degree of bone fragility and the fracture rate vary widely.

~This type is characterized by structurally defective type I collagen. This poor quality type I collagen is present in reduced amounts in the bone matrix.

~At birth, infants generally have mildly shortened and bowed limbs, small chests, and a soft calvarium.

~Respiratory and swallowing problems are common in newborns.

~There may be multiple long-bone fractures at birth, including many rib fractures.

~Frequent fractures of the long bones, the tension of muscle on soft bone, and the disruption of the growth plates lead to bowing and progressive malformation. Children have a markedly short stature, and adults are usually shorter than 3 feet, 6 inches, or 102 centimeters.

~Spine curvatures, compression fractures of the vertebrae, scoliosis, and chest deformities occur frequently.

~The altered structure of the growth plates gives a popcorn-like appearance to the metaphyses and epiphyses.

~The head is often large relative to body size.

~A triangular facial shape, due to over development of the head and underdevelopment of the face bones, is characteristic.

~The sclera may be white or tinted blue, purple, or gray.

~Dentinogenesis imperfecta is common but not universal.

~The majority of OI Type III cases result from dominant mutations in type I collagen genes. Often these mutations are spontaneous. Similar extremely severe types of OI, Types VII and VIII, are caused by recessive mutations to other genes.

~Genetic counseling is recommended for asymptomatic parents of a child with OI Type III before any future pregnancies.

~Significant care issues that arise with OI Type III include the need to prevent fracture cycles; the appropriate timing of rodding surgery; scoliosis monitoring; respiratory function monitoring; the need to develop strategies to cope with short stature and fatigue; the family’s need for emotional support, especially during infancy; and the off-label use of bisphosphonates.

~It is also important to address difficulties with social integration, participation in leisure activities, and maintaining stamina.

~The treatment plan should maximize mobility and function, increase peak bone mass and muscle strength, and employ as much exercise and physical activity as possible.



Type IV:

~People with OI Type IV are moderately affected. Type IV can range in severity from relatively few fractures, as in OI Type I, to a more severe form resembling OI Type III.

~The diagnosis can be made at birth but often occurs later.

~The child might not fracture until he or she is walking.

~People with OI Type IV have moderate-to-severe growth retardation, which is one factor that distinguishes them clinically from people with Type I.

~Bowing of the long bones is common, but to a lesser extent than in Type III.

~The sclera are often light blue in infancy, but the color intensity varies. The sclera may lighten to white later in childhood or early adulthood.

~The child’s height may be less-than-average for his or her age.

~It is common for the humerus and femur to be short

~Long bone fractures, vertebral compression, scoliosis, and ligament laxity may also be present.
Dentinogenesis imperfecta may be present or absent.

~OI Type IV has an autosomal dominant pattern of inheritance. Many cases are the result of a new mutation.

~This type is characterized by structurally defective type I collagen. This poor quality type I collagen is present in reduced amounts in the bone matrix.

~Significant care issues that arise with OI Type IV include the need to prevent fracture cycles; the appropriate timing of rodding surgery; scoliosis monitoring; the need to develop strategies for coping with short stature and fatigue; the family’s need for emotional support, especially during infancy; and the off-label use of bisphosphonates. Family members should carry documentation of the OI diagnosis to avoid accusations of child abuse at emergency rooms.

~It is also important to address difficulties with social integration, participation in leisure activities, and maintaining stamina.

~The treatment plan should maximize mobility and function, increase peak bone mass and muscle strength, and employ as much exercise and physical activity as possible.







It is my opinion that Sonya has either type 3 or 4 based on these facts:


1. People with type 1 OI are of average stature and their collagen structure is normal. ~ Sonya is only in the 3rd percentile for growth and has abnormal collagen structure.

2. Type 2 OI babies are born with a low birth weight and in utero have evident fractures in the skull, long bones or vertebrae. ~ Sonya was a whopping 8 lbs 5 oz at birth and during all 7 of my ultrasounds not a single broken bone was found and they were LOOKING for one!


I hate to try and guess what her type will be, but it is my nature to research it like crazy until I can take no more! A whole year and 10 days now is a long time to wait in the unknown. Jenn, I know you can back me up on that as you are still waiting on Simon's diagnosis as well. It can drive you crazy! So now I sit here with one bit of a diagnosis, still feeling as though we haven't come far enough and not much closer. I wasn't expecting these results at all. Campomelic Dysplasia or inconclusive results sure, but now as I hold her I'm scared. I think I liked not knowing a little bit better. A very big thank you to all of my great friends here in the blogging community, POLP. Campomelic Families, SWAN, OI Children, and of course Facebook and Myspace (yeah, I spend a ton of time on the net.. hehe..) for all of your excellent support! You guys are the best truely!

Tag.....I'm It!

I was tagged by Jennifer!

Here are the rules:

1. Choose the 4th folder where you store your pictures on your computer. No cheating {cropping, editing, etc.}!

2. Select the 4th picture in the folder.

3. Explain the picture.

4. Tag 4 people to do the same.



Well, since we just joined the technology world in 2008 (think... Gateway 2000 computer with Windows Millennium) and we finally have a new HP, the 4th folder held pictures of when Sonya was born! The 4th picture was perfect! Here she is, we were still in Doylestown Hospital where she was born. She is only 3 days and a few hours old on January 19th 2008, and we have just been told that we need to be medivaced to Children's Hospital of Philadelphia to the NICU ward. We were also told while I was still sharing a room with another new mom (whom I later ran into just recently, we have the same pediatrician) that our Sonya was not going to survive due to the respiratory failure that is almost always associated with Campomelic Dysplasia (her suspected diagnosis at the time). We were asked why we didn't abort (some big balls they had asking me that!) and I yelled them out of MY room! I managed to hold my camera steady with my shaking arms and my face wet from tears and snap a photo of her quickly before the paramedics came with an incubator for Sonya to be strapped into for transport. What the hell do stupid doctors know anyway?! Nothing I tell you, nothing!





For good measure, here is Akela Lillian at 3 days old at home. January 16th 2005.

And Zoe Elizabeth still in the hospital at 3 days old. September 16th 2001.

Ok, I'm going to tag Mandy, Trisha, Mike and Kim. Have fun!

I hAvE a LiTtLe MoNkEy On My HaNdS!!!!!!!!

That's right! Sonya is getting into everything and she is not letting anything get in her way either! So I snapped a few photos of her trying to pull herself up on a few things to stand. It really doesn't look like she is trying to stand with the drum, but yes that's what she was trying to do! She did get herself in a bit of a predicament though! She got stuck on top of the drum and unfortunately I don't have a picture of her in her hilarious airplane move! Hands and feet were airborne as her belly balanced on the drum, then the tears pursued and mommy had to help, then she did it all over again!

She found her way down the second time, headfirst!

Then she located her bouncy seat and tried climbing that!

One foot in!

Ahhh... Success!

By the way...... Not that many one year old babes can still chill out in their bouncy seats!

We also had a get together with Sonya's 4 month old cousins Miriam and Ashley this past week. They all loved talking to each other and grabbing one an other's faces! Sonya has about 2" on them still!

Who me? I told you I had a monkey on my hands! Sonya decided she was going to get into the cabinet and empty out the box of nursing pads all over the family room floor!

"Haha Mommy, just because you caught me red handed doesn't mean I'm going to stop! This is fun!"

And of course I had to share some of the cute outfits she got for her birthday! This one says "Little Lady" on the PJ shirt and is from Gymboree. Too cute!

This one (she was really ticked that I was taking her photo yet once again!) says "high hopes" next to the giraffe on the onesie and it is from Kohls (love that store!).

I'm sure I'll have many more monkeying around photos to come, as this is only the beginning of her cute emerging personality!

January Birthday Girls

So here's the big post for January! Akela and Sonya are exactly 3 years and 3 days apart! This year we had separate parties for them, but in future years they will have to share. I felt that Sonya deserved her very own first birthday just like the older girls had though. So being the crazy nut that I am, I had both of their birthday parties in the same weekend! Yep, that's right.... CRAZY NUT! Akela had her party yesterday (Saturday) and Sonya had hers today before the Eagles lost terribly to the Cardinals. GRRRRRRR...... That's 5 Championships (4 lost) and no Superbowl win! When I ask, when???? Ok, that's another story. Akela turned 4 on the 13th! She had a ballerina themed party and I got her tutus, slippers and wands for her, Zoe and her friends to prance around in. I even made her a strawberry ballerina cake with vanilla pink icing! She loved it, but was slightly disturbed when I dismantled the dolls torso from the cake. All in all she had a fantastic time. There aren't so many photos of Akela's party on my camera due to the fact that I was on child supervision duty. My mother still has to send me all of the nice pic's she took with her camera.

Sonya turned the big ONE on the 16th! We had a "little" themed party for her. I made mini quiches, mini sweet teriaki meatballs, cherry tomatoes and mini mozzarella anti pasta, mini chicken salad sandwiches, and mini cheese souffles. Of course the party wouldn't be complete without cake.... cupcakes that is ... mini cakes! Sonya had such a wonderful day! I can't believe she is already ONE! It feels like it was just last week that we were in the NICU watching her every breath hoping and praying each day that she would survive and stay just one more day with us! And here she is doing very well a whole year later!!! Ok, here's the important part...... PHOTOS!!!!!



This dress was Akela's first Easter dress, she wore it when she was just 2 and a half months old!

Sonya is on the move!

She got some cool clothes!

Mommy made her a sheepy bank with her name painted on it!

Mommy also made her a jewelry box with her name painted on it for all her pretty jewelry that she got from her family!

Ok, so I can't figure out why this photo won't post in the right direction! It's her cupcakes that I made put into and decorated in the shape of a giant cupcake! The red blob is the cherry and yep, she got that one!

Hmmmmm....... What do I do with this?

Touch it?

Lick it?

Want some?

SMASH IT AND THROW IT!!!!!! She had fun playing with her treat and really didn't eat much of it. I think she is still trying to get used to the texture of most table foods.

Here's sleepy head! She is still able to fit into and wear her hospital gown from the day she was born! That's my little peanut!

So, I also decided that I would do a quick photo shoot the morning of Akela's birthday! Yep, I whipped out my studio equipment and I'm again a crazy nut! I don't know how I manage to do so much sometimes! Anyways, I got a few good pic's of the girls in their Gymboree outfits. God help me, I'm addicted to that store!

This is sooooooo Akela's personality!

Here is Akela's strawberry ballerina cake with pink vanilla icing. I even found letter candles to spell out her unique name. She thought that was really cool, since we can never just find her name on stuff at the store ~ it's always special orders with her different name.

The cake is bigger than it appears in this photo. I must have had a weird angle. Make a wish!

Opening presents with her friends with tutus and her birthday princess crown of course!

Sitting Pretty!

Sonya has learned how to sit up all by herself! With her birthday only a few more days away, I was wondering when she would be accomplishing this great feat! I wasn't in the room the first time it happened and neither was Ian (my hubby). We went into the kitchen to resolve a dispute among Zoe and Akela and when we came back into the family room this is what we saw!

Ok, so here's how she does it. She is just commando crawling around....

Then she turns onto her side and pulls her one leg up underneath.....

Then with her other leg and toes, arms and hands pushing up off the floor.....

She's up! She can do this very quickly, so much so that I still can't get a shot with the camera of the stage inbetween pushing up and sitting!

Here is how she goes back down. This looks like it would hurt! Man, she is very flexible!

She first goes into a split and then.......

leans forward and.......

lowers herself slowly to the floor.

Ouch!!!!!

Then she is off and crawling away!!!! It's so amazing to see her do all of this! With her being only the size of an average 4 month old, she is really starting to drawl attention with her "advanced ways"! Haha!

Sonya also signed her first word recently! She signed "milk" and then proceeded to smack my chest and pull down my shirt. I guess she really wanted to nurse! Speaking of.... We are going to try to start weaning now that she is almost one and has been eating a variety of jarred baby foods and juices. She has six tiny, little, sharp teeth too! Haha! I can't believe my baby is going to be one! What a far cry from what the idiot doctors at our local hospital told us, that she would only breathe for a few hours! I'm holding a miracle!

Happy 2009!!!!

We wish everyone a happy, healthy and prosperous new year! Here are some pics of our New Years Eve! Sonyas sisters picked out this "party dress" for her! The shirt says Love Peace and Happiness and the girls thought this was the perfect New Years shirt!
Mommy, I don't want to sit for your photo shoot! I'm going to crawl away now!

Seriously, I am not going to wear these ballet slippers!

I'd rather eat them!

Ok, here's a good photo for you Mommy, but that's it!

Ok, can I just bum around and watch TV now?

The only picture of all three of them that turned out good.

Yep, she stayed upuntil the ball dropped on TV! She is my little night owl!

Akela made it until the ball dropped too and then totally passed out 10 minutes later!

Zoe also made it! This is her second year staying up to watch the ball drop. Every other year she fell asleep only minutes before the event!

Ok, so this was just too funny and I had to share it. Tonight (New Years Day night) Akela fell asleep on the staircase on her way down the stairs to tell us she needed to go potty. She has been coming downstairs every night an hour or two after being put to bed to tell us that she needs to go even when she goes before bed. I think she just wants a bit more attention. Usually she lingers on the staircase until we notice that she is there, well I guess tonight we didn't notice too quickly and she got tired!