Positive Spirits!

This past Saturday I got to spend the day with someone who also has a child with special needs. It felt GREAT! I love all my mommy friends but sometimes it’s nice to talk with someone who truly knows and understands what you’re going through. I’ve realized that my baby may not qualify for the basketball team or never be able to play contact sports but that’s OK! I look at it this way- how many people get to go swimming every week with their kids and watch them have a blast in the pool and it be called “therapy”.  STAY POSITIVE! That’s what I need to keep telling myself.

I’ve been on break for the past few weeks and it has been great! She isn’t sleeping past 6 but I wouldn’t trade it for anything. I’ve been working so hard trying to get her to crawl or say mamma but I don’t think it’s going to happen before I go back to school. She is waving hi now though! Any OI moms have suggestions on crawling- let me know!

Also, not sure if anyone remembers me talking about From Z With Love but what an amazing family! They sent us a huge care package full of things for Lilly after we found out about her OI.  The Mendez family welcomed Zayana Grace into the world on December 23 of last year. They only got to spend 16 weeks with their little girl. Since her passing, they send care packages to new OI families of some of Z’s favorite things. On December 23 of this year, they delivered a cartload of items to the hospital that Z was in.  Here was the news story on them: From Z With Love It’s a shame that more people in the world aren’t like that!

Well that’s the latest on us! I must go wake Lilly from her nap otherwise she’ll wake me at 5am!

Quick Update

It’s been a while since I’ve updated.  Being a full time nursing student and mommy means no free time! Thankfully I only have one semester left and I will have my BSN!

Lilly is doing great. Only 1 rib facture since my last update. She got a really mild cold and it was bothering her way more than it should have. That was how we discovered the rib fracture.  

She started doing Aqua Therapy every Friday night through Early Intervention. That girl is a fish! She LOVES the pool. She kicks and splashes the entire hour. The pool has some jets and a current that she swims against. We can already tell a huge difference in just a few weeks. She started sitting on her own more and wanting to stand on our legs. The increase in muscle strength is incredible. Not to mention it’s a good exercise for mommy and daddy!

We are still working on crawling. She knows how, she just can’t do it and get frustrated. Instead she rolls all over the house to get where she wants. Hopefully by Christmas she will figure it out.  Enough with the update, here is the best part: pictures!

Also here are her proofs from her 6 month pics: Click On Expressions Photography

Old Pic I Just Found... He fought a hard 9 months to meet Lilly. Miss you every day Grandpa.



Look At Me Swim!!!



First Pamidronate Treatment

Finally something close to home!! Lilly got her first Pamidronate treatment this week.  The pediatric floor in Indiana agreed to administer the medication. It was so nice to not have a 1+ drive. We went in Wednesday morning and the nurses were completely ready for her. One of the nurses actually has OI, what a small world. They put a scalp IV in and she did NOT like that. Fussed basically from 12-7, it wasn’t a fun day. They took some labs first and then she got half the dose of PAM over about 4 hours. She slept decent that night but mommy got no sleep. She rolls around so much and I didn’t want her to roll on her IV and it come out. The next morning they started to administer the second half of the medication and found that the IV was blown. So she got stuck again but this time in the hand. She didn’t like that much either but she did better than the day before. After that finished they took a second set of labs and we were out by 2:30. Perfect timing because Early Intervention was coming for an intake at 3. She is going to be getting some therapy through them to ensure she is developmentally doing as well as possible. Well it is now Sunday and Lilly is still not back to normal. She had a fever of 101* for 2 days and has had no appetite since Wednesday afternoon. I miss my constantly happy and smiling baby! This fussy, no sleep baby is not fun.  Hopefully she goes back to normal soon.

So a lot of people have been asking me what exactly Pamidronate is. Here is a little explanation:

Pamidronate is one of several drugs known as bisphosphonates. Pamidronate is given through an IV. It inhibits the breakdown of bone. In normal bones new, healthy bone is produced to replace the older bone that is broken down. In OI, imperfect bone is more susceptible to the breaking down. Meanwhile, the new bone is produced--but that bone is also imperfect and abnormal collagen causes this process to become less efficient and produce less bone. This combination of imperfect bone cells, increased bone breakdown, and decreased bone formation leads to the fragile bones that are characteristic of OI.
A study was conducted on 30 children who were given Pamidronate and all of the children had low bone density scores also known as z scores. During treatment, the average bone density increased by 41.9% per year. The incidence of fractures also decreased from 2.3 per year average to 0.6. The results varied among the 30 children, but overall, many of the children gained greater bone density, reported reduced bone pain, gained mobility, and had fewer fractures during the treatment.

This is exhausting mommy

But I'll look happy... just for a picture

Thanks Nana for the Lion King animals and to Mommy for jazzing up my ugly head wrap for the IV.



Enough pictures mommy!




My new club that made a good chew toy when mommy wasn't looking.



Omaha

Omaha=Success!!!

We flew in Tuesday late night. Flight went okay other than my mother and I not sitting together but Delta gave us $100 towards our next flight because of this so I can’t complain!

Wednesday morning Lilly got a DEXA (bone density) scan. We didn’t need to get additional x-rays because she just saw the ortho doctor in Pittsburgh for a follow up and got a copy of the x-rays there. Afterwards we decided to check out the Old Market. Not sure what all the hype about it was. It was NOT stroller friendly. There were some nice shops but overall not worth our time.  Then we decided to be stalkers and look for Warren Buffet’s house- there’s not a whole lot in Nebraska, haha!

Thursday was clinic. Lilly is a movie star! They were filming a piece for Dr. Esposito to use during conferences and things and they filmed Lilly for a while. PT/OT met with us then. They asked what all Lilly could do. Really she can do everything she should be at this point except holding herself up while on her belly and rolling over. I think Lilly heard me and thought “I’ll show you” because as soon as we got home she did both perfectly like she had been doing it for weeks, ha.

We then met with Dr. Esposito. Found out he is originally from Punxsutawney, what a small world. He went over all the X-rays and DEXA with us. Lilly had another fracture in her right femur that we didn’t know about. The only thing I can think of was about 2 months ago she was pretty fussy. We thought she was starting to get colic but then it went away after a week. I don’t know how we missed it but it healed well. The DEXA was more of a baseline for next year. Her femurs are bowed 60*, they want them under 30* so that means she will get rods in them.  Based on how she moves & is doing he thinks she will be an early walker so we need to call as soon as we see signs of her wanting to walk. If she puts much weight on her femurs they will probably snap so we want to avoid that.

We met with a nutritionist. She suggested that we start Lilly on Vitamin D. Neosure doesn’t provide enough VitD for her age. She also said we could introduce Stage 1 foods. I did some apples and bananas. She loves it but I don’t give it to her every day.

Dr. Lutz and his group came in next. They are starting her on Pamidronate every 2 months. Her first dose will be over 2 days. They said she can have flulike symptoms the first time but that is it. Each dose after will only take a few hours in an outpatient setting. They contacted our pediatrician and are setting everything up. Hopefully we can just get it done in Indiana.

A dentist met with us. There wasn’t much she could do at this point other than talk to us. Babies with OI typically have dentinogenesis imperfecta (abnormal dentin formation) so we need to make sure we take really good care of her teeth.

Lastly we saw a social worker. We pretty much have everything we need right now except for early intervention. Someone will come to our house and evaluate her to see what services they can provide. I’m not really sure what is all involved in that.  She also mentioned that our transportation can be reimbursed for going out there but I have no clue how to go about that.

Friday we just drove around. We were going to go to the botanical gardens but it was a really cold/rainy day. We went shopping & to Cabelas. They have an aquarium there and Lilly loved looking at the fish.

We had a great trip and will be going back once a year and then for surgeries. I was really happy with the care that she got there and how great the doctors were with her! I can tell that she is in good hands finally. The insurance battle was well worth it!

We did have a scare this past Friday night. Lilly found her toes and loves to pull on them. It makes me nervous but I can’t really stop her. Well she was on Skype with her nanna and I heard a snap and she froze and started to scream. We went to the hospital and thankfully there was no break! She probably just popped her hip out and it really hurt or her growth plates shifted and it hurt. She’s fine now thankfully!

Well that’s the latest on Lilly!

I Love Airplanes!

All Dressed Up For Clinic

This Is Exhausting!

ZzzzZzzz

Representing Pittsburgh

Mommy Had To Buy Me A Hat. Brrrrrrr

Ready To Go Home With My New Toy

Newest Family Pic: With Mommy and Daddy At Uncle Zach & Aunt Elicia's Wedding

Lilly Update

It’s been a while since I have updated. So much has happened and thankfully it’s all good news!

Aug 19- We went to see her orthopedic doctor at Children’s Hospital for a checkup. There were no fractures that we missed! I said from the beginning that I was going to prove him wrong with his “I won’t be surprised to see you before your check up” comment. Although that usually would be true with an OI baby, I didn’t feel that was appropriate to say to a new mother. From the x-rays he said it looks like her legs are straightening out a little and the bone density looks a little better. Finally a happy appointment!

Lilly is about to go on her first airplane! Lilly’s Nana and I are taking her to the OI clinic at Children’s in Omaha, NE. She will get testing done on September 14 and then go to clinic on the 15. She will see several doctors, nurses, physical therapists, occupational therapists, and nutritionists.  I am so happy that she is going to get proper medical attention. Children’s Hospital in Pittsburgh is fantastic, one of the best in the country actually, but not for OI treatment. A hospital can’t specialize in everything even though her doctors won’t admit to that.

Aug 22- My last first day of school. Only a few more months and I’ll have my Bachelors of Nursing! There were a lot of tears shed. I just spend every day for the last 3.5 months with Lilly and now I can’t do that. I have to keep telling myself that she is with the best daycare possible. Monday, Tuesday, & Friday= Grandma & Grandpa. Wednesday & Thursday= Nana & Pap. I’m glad that Lilly is going to get to spend so much time with her grandparents. It’s also a lot less stressful to think about how a daycare would handle her.

Lilly just had her 4 month checkup and vaccines. She is 9lbs and 21.5in. Her head circumference finally made it into the “average range” so the pediatrician said that the rest of the body follows right after. My little 4lb3oz baby is growing! I was told to start her on cereal. I read a lot of info about rice cereal causing constipation so it’s not good for babies who are already constipated. I decided to start with oatmeal and she loves it and seems to tolerate it ok. They say that cereal doesn’t help babies sleep at night, I disagree. Mysteriously she slept all night and she certainly wasn’t sleeping all night before. Yes, every baby is different but it definitely made a difference with Lilly.  

That’s pretty much everything for now! I will of course update about our Omaha trip. Thanks to everyone who has been so supportive of us and a special thank you to my professors who are giving me the time off to take Lilly to Omaha and even my friends/professors who are organizing a fundraiser to help!!! You guys are amazing and we appreciate it more than you will ever know.

Here is the link about the OI Clinic she is going to.

http://childrensomaha.org/body.cfm?id=1926

Coach sunglasses and an Iphone. Oh goodness, poor daddy....

Raising her right!

Our Family

Some Pics of Lilly

Looking At Daddy

Priceless!

Chilling With Raspberry

Lilly Loves Tubby Time

Wide Awake!!

You Are My Sunshine <3

Cuddle Time With Mommy

Fell Asleep At The Wheel!

Lilly's Story

I found out I was pregnant in October 2010. It was very unexpected and we were nervous but quickly became excited. I had my first ultrasound at 18 weeks and found out we were having a baby girl. Everything looked great as far as I knew. She was measuring slightly small but nothing of concern. We aren’t exactly the tallest people. As time went on I started to have some problems so my doctor gave me another ultrasound around 29 weeks. The tech, who is actually a friend of mine, thought that her legs looked a little bowed. I even noticed and asked about it. She got another tech and the doctor and they said that they probably were, it wasn’t just the angle. My OB sent me to Pittsburgh to a high risk doctor to get a second opinion. I went to that office and a tech and 2 doctors scanned me separately. They said everything looks fine and they had no idea why I was there. It was even mentioned, “The doctor was probably thinking the baby has skeletal dysplasia but your baby definitely does not. You have nothing to worry about.” Okay, they are the specialists so I believed it.
On May 2, 2011 I woke up at 5:30am and my water broke 6 weeks early. Lilly entered the world at 11:51am weighing 4lb3oz and 17 inches long. We spent 10 days in the hospital for her to grow. Otherwise we thought we had a healthy baby. At her first pediatrician visit after discharge, her leg was swollen. They sent me for x-rays which revealed a broken femur. I was then sent to Children’s in Pittsburgh. They discovered a skull fracture also that was probably from birth. They decided to admit her to the NICU. After 4 days and seeing what felt like every specialist in the hospital, they diagnosed her with OI and sent away blood work for confirmation. On July 5, 2011 it was confirmed that she has OI, specifically type IV. The “specialists” were completely wrong.
She is now 3 months old and seems to be doing really well. Developmentally she should be a little less than 2 months. She weighs 7lb3oz and is 20 inches. She is starting to have some head control and is constantly kicking and moving. So far there are no more breaks that we know of. We found a fantastic pediatrician and are working with her insurance on getting to her into the OI clinic in Omaha, Nebraska.
You’re probably wondering how she got OI. My grandmother’s brother, his son, and her sister all have OI. This led the geneticist to determine that my grandma, my mom, and I must have OI too. I got blood work taken and we will find out in a few months for sure. I have only broken one bone due to a sports injury. It came as a shock that I probably have OI too. But this explains why I am so short!! Although we believe that Lilly is worse than me, I hope that she can do most of the things that I did. If not, that’s okay and we will deal with it.  
<> 

Lilly's First Picture

Mommy's First Time Holding Lilly

Daddy and Lilly

Big Girl Without Oxygen!

Sleepy Baby

Take Me Home!!!!!

What is OI?

Osteogenisis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause.It is estimated that there are about 20,000 to 50,000 people with OI in the United States.
There are four recognized types of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have just a few or as many as several hundred fractures in a lifetime.


OI is caused by a genetic defect that affects the body's production of collagen, not calcium. Collagen is the major protein of the body's connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal(Type I), or a poorer quality of collagen than normal(Type II-IV)--leading to weak bones that fracture easily. An easy explination of collagen is this:
Collagen rods in bone are similar to the steel rods that support the building. The minerals including calcium and phosphorous from the blood, that crystallize and surround the rods play the same role as the cement that surrounds and supports steel rods in a building. These minerals give the bones strength while the collagen rods provide resiliency.


It is important to note that the features of OI (fracture frequency, muscle strength, bone and joint alignment) vary greatly from person to person, even among people with the same type of OI and even within the same family. Not all characteristics are evident in each case. In addition, many people with OI do not fit clearly into one of these four types. Types I to IV OI are determined based on clinical and radiographic data. Researchers are beginning to identify additional types of OI. Two new types of OI, Types V and VI, appear clinically similar to Type IV but have a distinct histology. When working with an individual who has OI, therefore, it is most important to focus on his or her particular abilities, strengths, and weaknesses rather than on his or her OI type.


Signs and symptoms of OI may include frequent fractures; muscle weakness; joint laxity; short stature; blue or gray sclera (whites of the eyes); thin, smooth skin; easy bruising; spinal curvature; bowing of long bones; and excessive sweating and heat intolerance. Some people with OI have a barrel-shaped rib cage and/or a triangular face. Some experience hearing loss, often beginning in early adulthood but in some cases beginning in childhood. Some also have a condition called dentinogenesis imperfecta, which affects the teeth. 

Clinical Features

Type I --Most common and usually mildest type of OI. (some type I's have many more fractures than the Type III/IV's)
Bones predisposed to fracture. Most fractures occur before puberty.
Normal or near-normal stature.
Loose joints and low muscle tone.
Sclera (whites of the eyes) usually have a blue, purple, or gray tint.
Triangular face.
Tendency toward spinal curvature.
Bone deformity absent or minimal.
Brittle teeth possible.
Hearing loss possible, often beginning in early 20s or 30s.
Collagen structure is normal, but the amount is less than normal.


Type II --
Most severe form.
Frequently lethal at or shortly after birth, often due to respiratory problems. In recent years, some people with Type II have lived into young adulthood.
Numerous fractures and severe bone deformity.
Small stature with underdeveloped lungs.
Collagen is improperly formed and insufficient.


Type III --
Bones fracture easily. Fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth.
Short stature.
Sclera have a blue, purple, or gray tint.
Loose joints and poor muscle development in arms and legs.
Barrel-shaped rib cage.
Triangular face.
Spinal curvature.
Respiratory problems possible.
Bone deformity, often severe.
Brittle teeth possible.
Hearing loss possible.
Collagen is improperly formed.
Some Type III will move into the Type IV range with treatment modalities


Type IV --
(Between Type I and Type III in severity)
Bones fracture easily, most before puberty.
Shorter than average stature.
Sclera are white or near-white (i.e., normal in color).
Mild to moderate bone deformity.
Tendency toward spinal curvature.
Barrel-shaped rib cage.
Triangular face.
Brittle teeth possible.
Hearing loss possible.
Collagen is improperly formed.

How Does One Get OI?

Most cases of OI are caused by a dominant genetic defect. Some children with OI inherit the disorder from a parent. Other children are born with OI even though there is no family history of the disorder. In these children, the genetic defect occurred as a spontaneous mutation.

Because the defect, whether inherited or due to a spontaneous mutation, is usually dominant, a person with OI has a 50 percent chance of passing on the disorder to each of his or her children. Genetic counselors can help people with OI and their family members further understand OI genetics and the possibility of recurrence, and assist in prenatal diagnosis for those who wish to exercise that option.

Treatment Options

Rodding Surgery- Rods can be surgically placed in long bones that have recurrent fractures and severe bowing. This helps to decrease pain, reduce the incidence of fractures, and enhance functioning, comfort, development and the ability to standand walk.


Bisphosphonates- There are two main cell groups in the bone. The osteoblasts, which make bone, and the osteoclasts that break down the bone (bone resorption). Both types of cells are very active, even in the adult, and work together to keep the bone intact and responding to stress. Current knowledge suggests that bisphosphonates slow down the process of bone resorption by shortening the life of the osteoclasts and prolonging the life of the osteoblasts, thus tilting the balance towards the production of bone. The prolonged osteoblast still produces mutant collagen. Thus, the patient is still making "OI bone," but resorbing less of it.
The most common is the IV drug pamidronate. It has also been shown to improve vertebral height and development in kids with compressed vertebral bodies. The long term effects are unknown, therefore it is not recommended in mild cases of OI. This treatment is typically done in the hospital.


Exercise- This is critical in a person with OI. Physical therapy, occupational therapy, and exercise all help to stregnthen a person with OI giving them optimal movement and functioning. It is important to start this as soon as possible. Swimming is a good choice as it is low impact but great for allowing them to use their muscles. Exercise also helps to keep a healthy weight which is important for everyone but especially someone with OI. The less weight, the less stress on the bones.


Links

Children's Brittle Bone Foundation

Osteogenesis Imperfecta Foundation

*Note: DO NOT Google OI. I did this when I first found out about Lilly's condition. Although there are some kids who are in a wheelchair for life and have a lot of physical abnormalities, this is not the case for everyone. Many kids can walk and even run. I've connected with many parents and these are the most amazing kids ever. They can do so many things that textbooks say they cannot do. So please do not Google OI and think you are getting all of the facts.