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Hi,
I am Alexi and I was born at 1:00 am on June 30th 2002(just happened to be my grandparents 51st anniversary). I was
5 weeks premature and 6 lbs and 17 inches. From birth, I kept my legs tucked up (like sitting like an
indian) but was otherwise healthy looking. My femur's were short from 22 weeks but all my sibs seemed to have
somewhat shortened femurs so it wasn't until my mom's 34 week ultrasound it was noted that my femurs were
bowed and significantly shortened and she was told that I had achondroplasia (a form of dwarfism)
but shortly after birth I did not appear to have this diagnosis.
I was seen by Genetics at UNC at 5 days old and after a skeletal survey it was suggested that I had Hypophosphatasia.
This is a rare autosomal recessive disease that is characterized by soft bones and that if picked up in infancy , 50% of infants
die by 6 months. This was a devastating diagnosis and everyone prayed and took lots of pictures.
In the first 2 weeks my mom and dad kept telling the doctors that there was something wrong with my leg and that I was
in pain. Almost universally they would not listen and at 2 1/2 weeks old my pediatrician snapped my right femur while
checking my hip for dislocation. My mom took me to the pediatric orthopedic specialist and told them she thought
my femur was broken and what had happened and they didn't even want to splint me. I had a spiral comminuted fracture
and she made a half body splint. I was so comfortable that I slept for the first time in 3 days and didn't
even need anything more than tylenol for pain. That splint stayed on for two weeks and within hours of it's placement
my left leg dropped down normally and when the splint came off my right leg was straighter and it also was able to fully extend.
I no longer hurt and could move my legs like a normal baby.
In those first few weeks mistakes were made while changing diapers and picking me up. Mom and dad learned
quickly to never hold me up by my ankles to change my diaper as this caused chip fractures at my knees and that picking
me up under my armpits caused little fractures in my upper arms. I was very tough and if you were not observant you
wouldn't notice the lack of movement for 16-20 hours. Babies begin healing heal so fast that I would be back and
moving by the next day.
At 2 months I had a skin biopsy for OI(osteogenesis Imperfecta) because the blood tests for Hypophosphatasia had
come back negative twice(thank GOD). The results would not come back until I was 4 months old but this gave mom
time to research the possibility of OI and treatment options available for this disorder.
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Always the Motivated BABY
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MOTOR MILESTONES IN FIRST YEAR
With every PAM treatment(every 8 weeks) I seemed to accomplish a new motor milestone, I had already started
to roll over at 4 months(pre PAM)
5 months ............I was rolling across the floor multiple times
6 1/2 months...... I could sit independently
7 1/2 months ......I was crawling backwards
9 months ...........I was pulling to stand.
10 months...........I was cruising on furniture
14 months...........I walked independently (same as my sister and a month before my brother
Aidan)
16 months............I ran for the first time
What a job!
And I haven't stopped yet!
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Between 2 and 4 months I did the normal baby stuff. I liked to sleep and eat(I was breast fed for the first year).
I went to Orlando and Vero Beach and got to wear my first bikini. I had no apparent fractures. I seemed to sweat
more than my other siblings and I seemed to get constipated a bit more as well. I wasn't fussy and was actually a very
easy baby and I seemed to be following the growth pattern of my second brother who was a premie as well.
On October 28th 2002 my mom got a call from the geneticist that I had OI Type III/IV
by biopsy and that I had to be Type III because my sclerae were blue(the whites had a blue color). We met with
the Geneticist on November 4th and I shocked the doctor because I was growing and feeding well and I had normal motor development.
I could sit with support on my parents lap and hold my head up well. I was able to roll from my belly to my backa nd
I could be handled fairly normally without breaking. I had a second set of xrays and the only thing of note was a lumbar
compression fracture(that my parents never even noted me in pain) and thinning of my bones. My mom was adamant that
I start a medicine that would build my bone density and we started those treatments on November 19th(as soon as we got back
from a preplanned caribbean cruise).
On December 2 2002 I flew to Omaha to meet one of the most important doctors in my life(beside my mom of course).
Dr Plotkin is internationally known for his work with OI children while first working at Montreal Shriner's
Hospital. He had now established an OI clinic at Children's Hospital of Omaha in Nebraske and their first clinic was
actually occurring when we were first getting our diagnosis. Dr Plotkin is such a caring physician that he was
willing to communicate and advise my mom even before we could physically see him. He thought that I clinically
looked a lot better than my xrays did and that with PAM(pamidronate) only time would tell with how well I would do.
He told my mom that WHEN I walked my femurs might bow more and that I may need rods. This was not bad news to her as
she had been told at our local university hospital that I would probably never walk. He answered her questions
and gave us a tremendous amount of his time and my mom came away with more piece of mind than she had had in 5 months
From 4 months until 12 months I received my Pamidronate in the hospital at UNC by an 18 hour infusion. My mom usually
took me after a set of night shifts and stayed with me the whole time. She was tired but she had to be vigilent
because someone was always trying to give me the wrong meds or take my blood pressure even though there was a BIG sign that
said NO BP PLEASE. I went in every 8 weeks healthy and came home and shortly thereafter was sick.
I had frequent sinus and ear infections from 6-11 months but because I had such a high tolerance for pain no one would pay
attention until my temperature went very high and my ear drum ruptured. When I was 11 months I got my adenoids
removed and tubes placed and it has been smooth sailing since.
At 12 months of age I returned to Omaha with both my parents and my dad was totally impressed with the time and caring
that I received by Dr Plotkin and his staff. I was growing well and had moved from the moderate-severe range to the
mild-moderate range and Dr Plotkin was happy to see my development. I was walking on furniture and with push toys
but I didn't want to fall so I was going to be perfect when I did it for real. I literally never feel on my butt....I
was that good.
At 15 months, Mom and I flew to Montreal to see the world renowned Dr. Fassier at Shriner's Hospital. This is the
man that actually designed a rod and surgical technique specifically for OI kids. He was impressed with how I
looked and what I could do and I was walking independently at this time(14 months). He told mom to try to let
me grow a little more and we would rod in the winter but if I broke he would get me in sooner. Mom was less than
enthusiatic but he was the expert.
At 16 months we went back to Omaha. I got a DEXA that showed my bone density was now -0.5 which was normal
and my medicine dose was cut in half. Mom got to have a SPA day with her friend Theresa.
My femurs had straightened quite a bit with growth and Pamidronate but they never completely straighterned and because
I was so active and running my mom pursued getting my femurs rodded before that inevitable bad femur fracture.
In February 2004 we went to Omaha to have both Femurs rodded due to our inabililty to coalesce mom's schedule with Dr.
Fassier's. Dr Esposito was amazed to see the video of this Type III/IV 19 month old and agreed to do the surgery.
Such a caring physician he came in sometimes twice a day to see how I was doing and called my mom at home to check on my progress.
The surgery went extremely well and took 3 hours exactly. We flew back 4 days postop and mom says I did good.
I was in posterior splints for 2 weeks but they came off everyday so that I could soak my legs and stretch. At 2 1/2
weeks I began to crawl on all fours(something I had never done before). I was up behind push toys by 3 1/2
weeks and my mom had me water weightbearing from 2 weeks on. I walked independently exactly 6 weeks postop and
began to run 3 days later. My scars are less than 2cm at my hips and 1cm in my legs. Had I had this surgery done
locally I would have been in a body cast(SPICA) for 6 weeks and probably not have been back walking for 3 months not to mention
the horrible incisions from knee to hip that they still do.
From 16 months on I have recieved my Pamidronate at home. Pamidronate has no serious side effects(except
fever in 85% during first infusion) so it can be given without a monitor in this setting. A home health nurse named
Val comes to the house and starts my IV and collects lab work to check Calicum and my kidneys. My medicine goes in while
I play or watch a movie. The IV is taken out and blood is collect ffrom my freely bleeding stick and that is it for
another 8 weeks(12 weeks after 2 years old). Even though I do not like the IV part I do like Val and I like the
fact that "I feel good......my bones feel good"(Alexi's exact words when she was 2.25 years old).
I go to physical therapy weekly and also do water theray once a week at a rehab pool when the weather is cool. In the
summer I am a fish so I am in my inground pool daily usually 2 times a day. I have very muscular thighs and can swim
6-8 laps in an olympic size pool by the time I am 2. I can walk a mile without getting tired and sometimes I run
most of the way. Mom says that I have read the book about OI and I want to prove every point wrong. My DEXA has remained
at around 0 and my rods are telescoping(growing with me)...........the future looks good right now.
My first fracture in 2 years happened in April 2005 when I broke my foot. I had been running
and jumping and showing my neighbor how I do ballet and gymnastics. None of this broke me but when I turned to run into
the livingroom I must have stepped wrong because I could not step on my foot. I was only 2 years 9 months old
but I could point with one finger to the area of pain and it was exactly right. So for Easter 2005 I wore a blue
cast(my FIRST one ever) on my leg for 10 days but then mom had to remove it because I had learned to run in it.
A month later my parents gave me the best present ever. I got a new brother from Bulgaria who had special bones
just like me. Go to ht tp://averyboiko.tripod.com to see him. Some people go their whole life without meeting or knowing another person with OI and I will
always have a brother to share the ups and downs of having this special disorder.
Thank you for reading my journey...................................come back often for updates......................
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