Osteogenisis Imperfecta, God Appointments, and Lucy Q&A

       
   The Lord comforts us in amazing ways.

    After we found out about Lucy's neck, we started looking into the Bell Center - Early Intervention program.  My mother told me about a friend of a friend who's daughter takes her little girl to the Bell Center.  (yes....I know that was hard to follow.   This is how God works.)  Anyway, the mom's name was Jenna and her daughter is Maggie.  Maggie has Osteogenisis Imperfecta.  My mom said that even though Lucy didn't have this diagnosis...we should call her and get her opinion of the Bell Center.  (In life there are no coincidences).  Jenna is an amazing person!  She made me feel so hopeful.  She praised the Bell Center and made me feel comfortable with the steps we were taking.  We talked about our daughters and shared stories.  Maggie has type II OI, which is a very severe form...often times fatal in the first year of life.  Maggie is a miracle....she actually rarely breaks!  (Before I tangent away from where I want to go with this post...I just want to say:  We are so eager to find someone to compare our children to when they are having a problem.  Its only natural, we want to know what to expect and how to best care for our child.  There may be some diagnosis's where this works....it doesn't in OI.  OI children are often called snowflakes....they are fragile, beautiful, and completely unique, even within types).  The information I want to share with you about OI is only a guideline.

   After Dr. Bober called me with Lucy's Diagnosis...guess who I called? 

   Jenna was a great resource for me and contacted another OI mom....Dana, who has a daughter Rhae with type III, to add me to the OI parents group on FB.  That group has taught me everything that I know about OI.  The group has 718 members.  Almost all of the members are parents of children with OI.  (Can I just take a moment...to talk about how God makes appointments for you.  This is His not so subtle way of telling you....I'm in control of this, Ive got this, I'm taking care of you, I haven't forgotten about you, trust me. If you don't know the Lord and you are facing an overwhelming circumstance, just take a moment now to ask Him into your heart.  You too can experience the comfort, peace, and guidance, that only comes from my Savior, Jesus Christ.)   If I hadn't called Jenna..then I would have been struggling on my own to learn what to do, instead of drawing from the experiences of 700 others....if I hadn't thought she had a form of dwarfism ...then we wouldn't have ended up in Delaware...where we were referred to a geneticist who is actually known as a OI expert...if her reflux hadn't been so bad...we would have been much rougher with her....if she hadn't had untreated jaundice...she wouldn't have ended up in the hospital getting x-rays.  You see where I'm going here?   God appointments.

    Lucy not only has this disease but has a very rare type - type V.

Most of the information I'm am posting below came from the OI foundation's website...www.OIF.org.

From xray

General Info

• The number of Americans affected with OI is thought to be 25,000-50,000. 
• The range is so wide because mild OI often goes undiagnosed.
• In addition to fractures people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature. Restrictive pulmonary disease occurs in more severely affected people.  These things are not known to affect type V.
• OI is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in bones, and other tissues. It is not caused by too little calcium or poor nutrition.  Type V's do not have collagen deficiency, they have an unusual bone matrix.  The bone looks like "mesh" under the microscope.
• OI is variable with 8 different types described in medical literature.  Up until 10-15 years ago, any mutation of OI that could not be defined in the first 3 types, was given a type IV diagnosis.  Only in the last decade have researchers found enough patients with similar characteristics, that they could define additional types.
• The types range in severity from a lethal form to a milder form with few visible symptoms.
• The specific medical problems a person will encounter will depend on the degree of severity
• A person with mild OI may experience a few fractures while those with the severe forms may have hundreds in a lifetime.

Types of OI

The appearance of a child or adult with OI and the problems he or she might have are influenced by the type of OI.

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 sclerae 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 sclerae 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 under development of the face bones, is characteristic.
• The sclerae 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 sclerae are often light blue in infancy, but the color intensity varies. The sclerae 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.

***Microscopic studies of OI bone identified a subset of people who are clinically within the OI Type IV group but have distinctive patterns to their bone. Review of the clinical histories of these people uncovered other common features. As a result of this research, two types Type V and Type VI were added to the Sillence Classification. Regarding these types, it is important to note the following:

They do not involve deficits of type 1 collagen.

Treatment issues are similar to OI Type IV.

Diagnosis requires specific radiographic and bone studies.

Type V:

• OI Type V is moderate in severity. It is similar to OI Type IV in terms of frequency of fractures and the degree of skeletal deformity.
• The most conspicuous feature of this type is large, hypertrophic calluses in the largest bones at fracture or surgical procedure sites.
• Hypertrophic calluses can also arise spontaneously.
• Calcification of the interosseous membrane between the radius and ulna restricts forearm rotation and may cause dislocation of the radial head.
• Women with OI Type V anticipating pregnancy should be screened for hypertrophic callus in the iliac bone. 
• OI Type V is dominantly inherited and represents 5 percent of moderate-to-severe OI cases.

 ( another radiologic finding that is not discussed in the OIF's description is that there is a dense, bright band, seen at the growth plates on x-ray.  This is one of the main reasons Lucy was given this diagnosis.  She hasn't any large callus's yet, and she is not old enough to have had her radius and ulna fuse together.)

Lucy was diagnosed based on the following:

 - dense, bright band, seen at the growth plates of her metaphysis

 - low bone density, number of fractures

 - and she DOESN'T have a collagen deficiency

   Ergo....type V...until proven otherwise.

Type VI:

• OI Type VI is extremely rare. It is moderate in severity and similar in appearance and symptoms to OI Type IV. 
• This type is distinguished by a characteristic mineralization defect seen in biopsied bone. 
• The mode of inheritance is probably recessive, but it has not yet been identified.
• Recessively Inherited Types of OI (Types VII and VIII):
• Two recessive types of OI, Types VII and VIII, were identified in 2006. Unlike the dominantly inherited types, the recessive types of OI do not involve mutations in the type 1 collagen genes.
• These recessive types of OI result from mutations in two genes that affect collagen
• the cartilage-associated protein gene (CRTAP)
• the prolyl 3-hydroxylase 1 gene (LEPRE1)
• Recessively inherited OI has been discovered in people with lethal, severe and moderate OI. There is no evidence of a recessive form of mild OI. Recessive inheritance probably accounts for fewer than 10 percent of OI cases.
• Parents of a child who has a recessive type of OI have a 25 percent chance per pregnancy of having another child with OI. Unaffected siblings of a person with a recessive type have a 2 in 3 chance of being a carrier of the recessive gene.

Type VII:

• Some cases of OI Type VII resemble OI Type IV in many aspects of appearance and symptoms.
• Other cases resemble OI Type II, except that infants have white sclerae, small heads and round faces.
• It is common for leg bones, humerus and femur to be short. 
• Short stature is common.
• Coxa vara is common.
• OI Type VII results from recessive inheritance of a mutation in the CRTAP gene. Partial (10%) expression of CRTAP leads to moderate bone dysplasia. Total absence of the cartilage-associated protein has been lethal in all identified cases.

Type VIII:

• Cases of OI Type VIII are similar to OI Types II or III in appearance and symptoms except for white sclerae.
• OI Type VIII is characterized by severe growth deficiency and extreme under-mineralization of the skeleton.
• It is caused by absence or severe deficiency of prolyl 3-hydroxylase activity due to mutations in the LEPRE1 gene.

Lucy Q & A

There are a couple of questions people ask me all the time:

Q.  Will she grow out of it?
A.  OI is a genetic disorder that is present throughout a person’s lifetime. The frequency of fractures may decrease after puberty, when growth stops. Later, it may increase again in women with the onset of menopause and in men due to age-related changes in their endocrine system.


Q.  What are the chances of having another baby like Lucy?
A.  About the same chance you have of having a child with OI.  We have no family history of the disease.  Therefore, it is likely that she is a new mutation.  We have only a 1% or 2% chance of having a another child with OI.


Q.  Could Ella have a child with OI
A.  No, her chances are the same as the general population.


Q.  Can Lucy have children and will they have OI?
A.  OI does not affect fertility. Many men and women who have OI have children. Some women who have OI may experience pregnancy complications due to skeletal problems. It is important that all young people with OI receive information about their condition and reproductive health.  She has a 50% chance of having a child with OI. If she had a child that had OI, they would have the same type but the severity could vary.


Q. What severity is Lucy?
A.  Clinically, according to our geneticist, she is mild because she doesn't have any deformity, ie.  bowing of her bones or disproportion such as short limbs or large head.  However, she has had a good many breaks, including compression fractures of her spine, which indicates a more moderate to severe condition.  She has only a slight amount of bowing in one of her arms and her fibulas are longer than her tibias.  There are only small indicators of mild deformity. 


Q.  I have said that the Dr.s have told us that they have never seen anything like Lucy.  Why do they say that?
A.  Well, first off, only a handful of Doctors in the world have even seen a type V, and even less are knowledgeable enough to treat them.  However, Lucy has even confounded the experts.  She has metaphyseal flaring in her bones.  That means the ends of her bones flare out like bow-ties.  This not only confounds our physicians,  but even the world's foremost expert on OI, Dr. Glorieux, from Montreal, Canada, just looked at me when asked about this and said, "Let's just say she has type V for now." Because he hasn't seen other patients with her bone structure.  Also, her neck, there is not a published case of a patient with OI with a neck like Lucy's. "The structure isn't right".  We don't know what that means and we are just waiting to see how she does as she grows. More than likely her neck was broken during birth. She truly is a unique little snowflake.  There is no way to predict what her future holds.

From xray

Q. How many fractures has Lucy had?
A.  13, 7 at birth with included 5 broken ribs, shoulder blade, and neck.  Since then: forearm, 3 femur (upper leg), and 2 compression fractions of the vertebral bodies in her spine.  So, far she only "cracks", which means they are not displaced.  She has an extraordinarily high pain tolerance, two of the femur fractures we never even knew about, we just saw signs of healing on x-ray.

From xray

Evidence of Crushed vertebral body (this is Lucy's x-ray):

From xray

Q.  Will Lucy need any surgeries?
A.  We are anticipating several surgeries.
      - She may need to have her long bones rodded to provide internal splinting and protect her from severe displacement in the event of a fracture.  We will not have any surgeries done on her forearms since we are anticipating those bones to fuse together because of her type.
     - Her fibula is longer than her tibia in her lower leg.  They may want to shorten her fibula's as concern grows regarding interference with walking.


Example of rodded legs:

From xray

*disclaimer - This image is not of anyone that I know, I found this image in a google search.


Q.  When will these surgeries happen?
A.  There is a delicate balance between waiting as long as possible so that the largest size rods can be used and timing the surgery before a severely displaced fracture.  In general fracture rate is monitored along with her mobility.  The general rule is, once she starts pulling to stand, we need to start thinking about rodding.


Q.  Does this disease affect her mentally?
A.  Actually, There are studies being done to investigate if people with OI are more intelligent than the average population.  We do not see any signs of a cognitive challenge in Lucy.  Also, there is no study on this but also generally speaking, children with OI are generally happier than their peers.  My theory is that they have a "Don't sweat the small stuff" type attitude.


Q.  Is there a treatment?
A.  Yes, but first you must qualify for the treatment.  The guidelines are 3 long bone fractures in a year or one compression fracture.  The drug she receives is called Pamidronate.  She gets it by IV infusion over 3 days every 2 months.  There are other protocols that are used that are for shorter durations, frequency, and dosages, but we have chosen to act aggressively in light of the number of vertebral fractures she has already had before she was even 7 months old.  We have chosen the dosage for moderate to severe OI patients.  There is another drug that we may change to when Lucy turns 2 called ZOLE or zoledronic acid - also known as Reclast.  She would take it less often in a lesser amount.  It is supposed to work better with fewer side effects.  The studies that are going on right now with Zole are very exciting!


Q.  How long will she take the treatment?
A.  She will take the treatment until she stops growing...sometime in her teens. However, as her growing slows with age, there will be longer periods of time between treatments.


Q. What are the drawbacks of the treatment?
A.    Potential drawbacks:  
      - Her bone density must be closely monitored.  We have bone density scans or DXA scans twice a year. If her bones were to become hyper-dense.  They could shatter or have severe fractures that will not heal.
      - When taking this drug, OI patients tend to feel so much better that they can be a danger to themselves.
      - Once you begin taking the drug, it is not wise to stop taking it because as the bone grows and new untreated bone develops, the fracture risk increase at the junction of treated  and untreated bone.  It requires a commitment.

Rodded Bone that also shows treatment lines: (image found on google)

From xray

      - As bone density increases, the risk of displaced fractures increases.  A severely displaced fracture could have life altering affects.   Even treated OI bone is still OI bone. It is lacking some basic element that typical bones have...such as collagen or, in Lucy's case, an organized bone matrix.  This sounds like a no-brainer right?  Why would you give your child this drug?  Because it lowers the frequency of fractures and lowers bone pain.  It allows children with OI to have a childhood.  Some children can go years between fractures...whereas before they were fracturing monthly.  Also, having internal splinting such as rods helps to prevent displacement. 


Q.  You talk about therapy a lot.  What can therapy do for her?
A.  We can strengthen her muscles as much as possible.  The stronger her muscles are the more they protect her fragile bones.  Even when our children have fractures, treatment never stops and therapy never stops.  Every activity she does MUST be looked at as an opportunity for therapy.  The water is our greatest resource...I have Lucy in the pool as much as possible.  Its provides a hands off approach to PT and provides natural resistance.  It is the safest environment she can be in.  When she is in the water she can put weight on her legs.  She can play uninhibited in the water.


Q.  Will Lucy be in a wheelchair?
A.  There will be times in her life when Lucy will need a wheelchair.  Possibly during a fracture, or potentially for her own protection in crowds, or possibly when traveling long distances to avoid damage to her joints.  It is very possible that she will not need a wheelchair most of the time and certainly not at home.  I used to have a lot of anguish at the thought of her being in a wheelchair, now I see it as a tool for freedom.



    If you see me and you would like to ask me a question about Lucy, I most certainly do not mind.  There is not a lot of awareness out there about her disease and I would love to educate you.  That way, you are no longer afraid of my daughter, but you can come along side us, in encouraging her and promoting her confidence.  You can help to protect her if you see us out.  As she grows you can include her in birthday parties and invite her for sleep overs.   You will not feel sorry for her but will see her as a regular child who wants to participate with the other kids.

Here's one famous person that you may know that has OI:

Atticus Shaffer from ABC's Comedy "The Middle"

From xray

Lucy's Story - Pregnancy and Birth

  I have been keeping a caring bridge site for a while now and updating it with medically relevant information that we find out about Lucy.  There is a text and picture limit on caringbridge that keeps me from sharing all that I would like to at times.  So, I have decided to move back to the blog that I had been updating since Ella was born. I have been neglecting it since we found out about Lucy.  I want to share so much more!  Plus, its a record for my children.  I have found that the only way I can remember when Ella started crawling, eating solid food, etc. is to look back at this blog.  One day maybe I can print it out and make a book for them.  If you would like to follow this blog the same way you follow caringbridge, you can type in your email address on the left hand side of the page where it says "follow by email".
   Anyway....I'm going to move the caring bridge posts and try to bring in a few updates on Ella Grace as well.  I want to start with Lucy's story.  Not only the story of her medical concerns but also the story of our family and how God is using Lucy to change our hearts and lives in greater ways than we could ever dream.  No one would ever ask for these challenges.  Only the Lord knows what you NEED.

    Jason and I face many challenges when it comes to having children.  Our first few pregnancies were all miscarried in the first trimester.  We tried for 3 years. As devastating as that time for us was, it never occurred to me that I wouldn't someday have children.  Looking back I see now that we needed that time together as a newly married couple to build the foundation of our marriage. God always has a plan.

May 21, 2005

     I started seeing Dr. Honea at the ART Fertility clinic at Brookwood Hospital in April of 2007.  She discovered that I had a non-typical form of antiphospholipid antibody syndrome. I form clots at the placenta, which is why I could never get past the first trimester.  The placenta could never take over supplying nutrients to the baby because of the clots.  By July of 2007 I was pregnant again.  This time Dr. Honea had me take progesterone, give myself heparin shots, and take baby aspirin.  The first trimester came and went.  I had a subchorionic hemorrhage around the sac the baby was in, but it resolved itself and caused no concern.  The second and third trimesters were uneventful, and finally on April 9th 2008, we had a perfectly healthy and beautiful baby girl and named her Ella Grace.  Our first little miracle.

April 9, 2008

April 9, 2008

April 9, 2008

     When Ella turned 2 we started wanting to have another child.  I wanted to be pregnant through the winter and since we knew the "recipe" for success, we returned to Dr. Honea for our 2nd child (7th pregnancy).  We got pregnant right when we wanted to, in July 2010, once again I had a subchorionic hemorrhage around the gestational sac, but it did not cause any concern.  But this time I also had placenta previa.  We opted for a first trimester screening.  We were so confident.  For us, it was just another ultrasound we were getting to see the baby.  During that screening, which they do at 12 weeks, the Dr. observed a heart defect.  SHE (another girl) had "significant regurgitation observed in the tricuspid valve."  The Dr. felt that it was possibly a sign that the baby would miscarry.  When I went for a 14 week check up on September 13, 2010, they could not find a heart beat.  We had lost her earlier that day.  She was measuring to the day, the size that she should have been.  Our first 2nd trimester loss. Though we had many good intentioned people say to us "it just wasn't meant to be," we realized that her brief life served a great purpose.  She drew us to the Lord.  Seeking, pleading, relying totally on Him. On the day that our baby's heart stopped beating, I was so full of faith that I believed that it had not.  Even after accepting the reality of the truth, the peace of the Lord overwhelmed me and Jason and we were able to see the bigger picture.  During that time, unlike any other, we were able to connect and share our faith and it came so easily.  The day after we lost her I wrote, "I praise the Lord, that He loved us enough to challenge us in this way.  Not only to draw us immeasurably closer to Him, but to aide us in what we had been praying for; being able to share our faith.  It had been uncomfortable for Jason and I both.  Her life was not wasted, she changed us forever."  She also challenged us to imagine what life would be like with a child that had a physical challenge.  Looking back, wow, she prepared us for Lucy.

    We were required to wait a few months before trying again.  Dr. Honea suggested I be tested for IGG deficiency (Immune deficiency), there is some research that shows a relationship between immune deficiency and antibody production and miscarriage.  The treatment is IVIG infusions.  The test came back and showed that I was deficient.  So, thank goodness, insurance would cover treatment costs (around 5000 an infusion).  I began monthly infusions immediately (October 2010).   On my grandmother's birthday (Emma Lou) (I think of this as heavenly foreshadowing), the day after my 32nd birthday, I had a positive pregnancy test. I started immediately on my regiment of shots and pills, but also added monthly IVIG infusions. 

   This pregnancy proved to be extremely challenging.  Immediately, at 6 wks, Dr. Honea was already seeing a subchorionic hemorrhage. At 12 weeks, partial placenta previa.  I was put to bed for a week.  At 13 weeks, we had our first trimester screening.  All good news! No heart or other structural defect, chances for Downs was 1 in 9300, Trisomy 18 was 1 in 10,000.  At 14 weeks, I switched from Heparin to Lovenox (2 shots a day to 1).  Whew! That's Better! Everything was good.  The baby was measuring right on target.  At 16 weeks, the hemorrhage was gone and Ella named the baby "Jesus Broccoli".  I think she wanted a brother.  Unfortunately for her, it turned out to be another GIRL.  We were so excited when we found out that we were having another girl!   We chose the name Emma Lucy after my grandmother, Emma Lou Cabaniss. My "Lulu" was amazing! LuLu had been fighting ovarian cancer for 5 years. She was so strong and such a fighter and an inspiration to so many.  

February 27, 2011

April 24, 2011 (Easter)

    At 19 weeks, she was measuring right on target for her due date.  At 23 weeks I started bleeding.  I went to the Dr. to get checked out.  Lucy was fine.  But when the technician started measuring her long bones she noticed that her femur had only grown 2 days in 2 weeks time. At 24 weeks, her long bones had fallen another week behind.  My OBGYN said that she thought Lucy might have a form of dwarfism. We were quickly referred to a Specialist at UAB to follow Lucy's progress. Her long bones continued to fall further and further behind in growth at each ultrasound. At 27 weeks, her bones began to flare (metaphyseal flaring). At 34 weeks, our specialist told us that her chest was small and she might have some breathing problems.  
   
    At 37 weeks, her legs were behind nearly 2 months, her arms - 6 weeks, and her collarbones - 3 months behind.   We were nearing delivery, our specialist presented us with several possible scenarios. 1st, he reassured us that her condition should not be fatal....thank you Lord. However, she appeared to have a small thoracic capacity, micronagathia (small jaw) which could cause some breathing or feeding problems, possible cleft palate, collarbones that were not fully formed, and metaphyseal flaring in her long bones which may cause weakness and stunted growth. He estimated at her birth, she could be between 16 and 17 inches long.   

July 27, 2011

July 27, 2011

July 26, 2011

    OK, now we are getting close to her birth story and let me just say, that each Dr. visit we had, and there were MANY, left us devastated in different ways at every visit. There was always a new theory, a new diagnosis, or a new discovery that left us spinning.  We mourned, we prayed, we begged God to intervene.  I am a researcher and planner.  That is my nature.  It's the way God created me, it is one of my gifts, but it also interferes with my faith.  At first, I set out to "figure" out what was going on.  I researched day and night, any time there was any new information, I studied it.  That should come to no surprise to anyone who knows me.  The day after any Dr. visit, I was calling for Dr.'s notes, I wanted ultrasound reports, lab reports, I believed that if I could put all of the pieces together, I could prepare for the future and for being Lucy's advocate so she would receive the best care available.    I believed that was why God gave me those gifts.  We sought counsel with our pastor.  I think we did most of the talking and he mostly listened, which is what we needed.  We expect our pastors to work miracles when we go to them, don't we?  But the LORD, did do something amazing in that one little counseling session...Our pastor took one look at my "to do lists" and said "Mary, Mary, why you buggin'?"  Referencing an 80's song, its one of the reasons we love him :)  But the lesson was that I was being like Martha in Luke 10, so concerned with preparations that I was not seeking the Lord (like Mary).

 38Now as they were traveling along, He entered a village; and a woman named Martha welcomed Him into her home. 39She had a sister called Mary, who was seated at the Lord’s feet, listening to His word. 40But Martha was distracted with all her preparations; and she came up to Him and said, “Lord, do You not care that my sister has left me to do all the serving alone? Then tell her to help me.” 41But the Lord answered and said to her, “Martha, Martha, you are worried and bothered about so many things; 42but only one thing is necessary, for Mary has chosen the good part, which shall not be taken away from her.”

   From that day on I prayed to be less like Martha and more like Mary.  The Lord didn't change me overnight but over the course of my pregnancy, I slowly learned that the Lord was in control, He would not abandon us, He was with us, He would help us, all we had to do was trust Him.  By the time our final specialist appt. came around, I didn't even want to go.  I was at total peace.  I didn't request reports and I didn't immediately leave and frantically begin researching the latest list of syndromes that Lucy could possibly have.  We were just ready to meet her.  Jason didn't have as far to go in trusting as I did, but when the time came, we were ready for her and we knew that:

 1.) The Lord had a plan for her
 2.) The Lord would not abandon us
 3.) He was in charge.

   We began to see the Lord's hand in mighty ways leading up to the week of Lucy's birth. "LuLu" had wanted to see Lucy born so badly but God had another plan. The week prior, my grandmother began saying things in her last moments that made us certain that she was talking to the Lord as she drifted from us.  It was a rare gift in a difficult time. LuLu lost her battle with cancer and left us for Heaven on October 14th. We were able to celebrate her life and have her funeral by the 16th! It was full of joy instead of mourning and full of little quirks and ironic twists that made us think that grandmother would have really enjoyed it. We enjoyed thinking that maybe she was getting to see Lucy first, after all.  

   On October the 17th, Emma Lucy Slye, was born.  We arrived at Brookwood medical center at 6:30am to prepare to be induced.  I was only dilated 2cm, which is what I had been for 2 weeks so the nurse thought that we would have a long day ahead of us.  She estimated that Lucy MIGHT arrive around 5pm.  We told her about all of the complications that we were prepared for and we talked about all of the people that were praying for us.  The entire time I was in labor, Jason and I were continuously getting text and emails from friends and church members that were praying for Lucy.  Around 11:30, the nurse sent mom and Jason to Lunch.  At 11:50, the nurse checked me and said that I was 10cm!!  She said we needed to slow the prayer team down! (Yeah, right!) I needed to call Jason to get back fast.  I kept trying and trying but he had no service.  I was in a panic.  Finally, I got him at 12:30 and told him to hurry!  The nurse paged Dr. Barron and told her to hurry too!  Jason ran in the room at 12:38 and she was born after 1 push at 12:50!  Perfect in every way!! We were so anxious to have her weighed and measured!  We watched as they checked her out.  Her apgar scores were and 8 and 9! Finally they weighed her, 6lbs 4oz!  The guy that was cleaning her up had a speech impediment and stuttered, Jason couldn’t stand waiting…he was bouncing up and down nervously...he asked how long she was and he said……."sh…sh…sh..sheees….na..na..na…nineteen inches"!  WHAT!! WOW!! Those few seconds it took him to get it out seemed like an eternity.  (This is a great part of the story...you should hear Jason tell it!)  She was breathing fine on her own!  Her palate was not cleft, only a high arch!  The neonatologist was on standby to be in the delivery room but we never needed him. 
   
   The Lord had given us so many miracles, from grandmother, to the labor, to a perfect little girl.  We had been worried about her since I was 19 weeks pregnant, now here she was and the Lord had given us such peace the whole day.  She looked so much like her sister!  We were transported to a room and all of our family joined us.  A nurse came in to give Lucy a bath and take her vitals.  Cici (Jason's Step-mother) brought Ella Grace to the hospital just in time to see her get a bath!  She instantly loved her so much.  She got to give her the monkey she got her as a gift.  She was worried about mommy too, whether my tummy was hurt, and If I got a Band-Aid :)  Lucy had the cutest little baby mullet J    Jason was on cloud 9! He was so pumped up that night, he was calling everyone he could think of that he knew had been praying for Lucy and was telling them what God had done!  He was so excited he wanted everyone to come have church in the hospital right then!  The stress  of the previous months made the thrill of Lucy's dramatic arrival so much more exciting!  We were able to see God's great love for us, for Lucy, how he touched other's and drew them closer to Him!  Only a few hours old, and already, she has such a mighty testimony for the Glory of the Lord.  If nothing else happens in her life, she has already done such great things!   Little princess - Big Impact!

October 17, 2011

October 17, 2011

October 17, 2011