Osteogenesis imperfecta type 2

This is a page with links and information on osteogenesis imperfecta type 2 – a disease that is incompatible with life outside the womb, and what caused my sweet little Henry to pass away.

At the bottom are links to a few pictures on what a fetus with OI type 2 looks like (they are not of Henry). Please be warned, some of you may find the images disturbing. Please do not visit the links if this makes you uncomfortable.

From the Centre for Arab Genomic Studies:

“Osteogenesis imperfecta congenita or type II osteogenesis imperfecta is the most severe form of the disease. Affected individuals exhibit short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclera, whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth. There is bowing of limbs due to multiple fractures. More than 60% of affected infants die on the first day; and 80% die within the first week. Survival beyond one year is exceedingly rare and usually involves intensive support such as continuous assisted ventilation. Death usually results from pulmonary insufficiency related to the small thorax, rib fractures, or flail chest because of lack of stable ribs. Those who survive the first few days of life may not be able to take in sufficient calories because of respiratory distress.”

From the site Medscape, an overview of osteogenesis imperfecta that describes the different types (there are eight), with some x-ray imaging of broken and deformed bones of a type 1 patient (not graphic).

“Osteogenesis imperfecta (OI) is a common heritable disorder of collagen synthesis that results in weak bones that are easily fractured and are often deformed. Several distinct subtypes have been identified, all of which lead to micromelic (short-limbed) dwarfism of varying degree. Depending on severity, the bone fragility may lead to perinatal death or cause severe deformities that persist into adulthood.”

What OI type 2 looks like (some images may be disturbing to some of you. Please don’t visit the links if you are not sure or uncomfortable):

  • A newborn with type 2
  • The beaded ribs of a type 2 autopsied fetus (graphic – two images – an exposed chest and its accompanying x-ray)
  • Sections of femur and spine from a normal and type 2 body, for comparison
  • A very young fetus with type 2. This image may be very disturbing to some of you – you’ve been warned.                                                                                                                This is similar to what Henry looked like (Henry was a lot smaller, but just as red). This is not Henry.  Link jumps directly to a small, red baby with broken and short limbs.

12 comments on “Osteogenesis imperfecta type 2

  1. […] But you DON’T have osteogenesis imperfecta. […]

  2. Kourtney says:

    Hi Mel,

    I am so, so sorry for your loss. I can’t even begin to imagine it.

    My name is Kourtney and I go to Indiana University in Bloomington Indiana. I’m in an embryology class and I chose to research Osteogenesis Imperfecta Type 2 for my big health project. I was wondering if I could ask you a few questions via email in order to understand this disease even more and give a real insight for my project. I’ve been reading your blog and I think this blog is great to raise awareness to OI type 2. I’ve been learning a lot from what you’ve written.

    Thanks,
    Kourtney

    • Mel Lefebvre says:

      Hi Kourtney,

      Thank you for your message – and, I would absolutely love to help you with your project. I have sent you a message through my gmail account. If you don’t get it, please let me know and we’ll try to connect another way.

      Mel

  3. Kim Duthu (do-to) says:

    Hi Mel i just read and viewed your photos, In 2006 I went for an MRI for my back well the results from that was i was 7-8 months pregnant, I had NO clue what so ever due to the simple fact when my daughter was born in 2002 my tubes were tied, cut and burned so therefore I knew it was simply impossible for me to be pregnant but I was. Well from then on I had the journey of being a mom again. Well my first ultra sound showed that i may be carrying a child with a form of dwarfism, them I had a fetal MRI which showed the same thing and was warned my baby may pass as soon as she was born. I was told to abort, but I am not a believer in that. I believe god don’t send you no more than what you can handle. Well on April 15, 2006 lil Emily came into this world and the doctor notice immediately her eyes were this bluish color and he told us he wanted to ex-ray her asap, well she was born with OI Type 2. Our lil Emily was with us only 36 hours but she was loved just as if she was with us forever! We have an older son who is now 19 and a daughter who is now 12 and they sure miss their little Sister. Hope you do not mind me sharing my story with you. Not a day goes buy i do not think of her and ask why me? both our other children or very healthy. i often wonder if there was something I carried to her or my husband. Still trying to understand how this happened after 8 years. thank for sharing your story and time.

    Kim

    • Mel Lefebvre says:

      Hi Kim,

      My apologies – I missed your comment until now. My very sincere condolences for the loss of your precious daughter. I’m honoured that you shared you story with me. I always find writing out pain helps make it more manageable. I agree with wondering ‘why me?’It isn’t at all fair, is it? Thank you for writing! ~Mel

  4. Tonje Eileen Sunnset says:

    Hi,

    I lost a son i july 2014. He had Osteogenesis Imperfecta type two. I would like to get in touch with you.

  5. Mel Lefebvre says:

    Tonje – I am so deeply sorry for your loss. I replied to you through my email account. Please let me know if you see my message or not.

    Mel

  6. LaQuita says:

    I am dealing with this well I am 36 weeks and I will like to talk to u as well

  7. Anonymous says:

    my son was dignoised with oI type 2 ;( im due on july 7,2015

    • Mel Lefebvre says:

      Thank you for your message. And, I’m so sorry you received this diagnosis. If you need someone to talk to, please send me an email to: mel(dot)lefebvre(at)gmail(dot)com. (replace “dot” with . and “at” with @- I just don’t want spam). I hope to hear from you soon. Mel.

  8. Romina says:

    Hola mi beba también tenía osteogenesis imperfecta del tipo 2 falleció al nacer. Me gustaría mantenerme en contacto con vos ya que pasamos por lo mismo. Te mando un saludo Romina

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