On Friday, Kari and Adam met with Isabel's pediatric geneticist and received news about Isabel's symptoms and condition. Based on the doctor's evaluation and the results from the genetic testing, Isabel has been formally diagnosed with Crouzon Syndrome.
Crouzon (pronounced KROOZ-on) Syndrome is a rare genetic condition that, in Isabel's case, occurred as a random, spontaneous mutation of one gene. The main feature of Crouzon Syndrome is craniosynotosis, or the premature fusing of the cranial plates. This fusing does not allow the skull and other cranial bones to grow and expand normally, potentially affecting the shape of the head and the structure of the face. Many children with Crouzon Syndrome also experience problems with their soft palate, breathing, hearing, and vision.
That said, it is important to know that Crouzon Syndrome and the severity of its symptoms vary greatly from patient to patient and evolve differently over time. There are some characteristic facial features of a child with Crouzon Syndrome, including a tall and narrow head shape, prominent eyes (due to shallow and wide-set eye sockets), a small nose and mid-face area, and a more prominent lower jaw.
For children with Crouzon Syndrome and craniosynotosis, surgical intervention is usually necessary to give the brain adequate room to grow and expand. As you know, Isabel has already undergone one extensive (and successful) surgery to release and rearrange the bone in her skull and face. As she develops and changes, Isabel may need additional surgeries but, hopefully, her surgeons have bought her some extra time with their excellent care.
A few more facts about Crouzon Syndrome:
- With rare exceptions, Crouzon Syndrome is not life-threatening and does not shorten a patient's life span or interfere with basic life functions.
- 97% of children of Crouzon are of normal intelligence.
- Since neither Kari nor Adam have Crouzon Syndrome or a familial history of the condition, their risk of having another child with Crouzon is virtually the same as the general population (roughly 1 in 60,000 to 100,000 births).
- Crouzon Syndrome is hereditary, and Crouzon patients have a roughly 50%-60% chance of passing on the condition to their children.
If you would like to learn more about the condition, here are some helpful links: The Crouzon Support Network FAQ, The Seattle Craniofacial Center, and The National Craniofacial Center.
Thank you all for your continued interest, prayers, and support. We'll update soon about the progress with Isabel's feeding/breathing and plan for going home.
