Craniodiaphyseal Dysplasia Case Study

Mask
A true story based on the life of Roy L Dennis a kid who lived with
Craniodiaphyseal Dysplasia

Outline:
• History of Movie, character, and disease
• Functional Assessments Pgs. 1, 2,3, and 4
• Health Assessment Analysis
• Additional Observations
• Nursing Considerations
• Referrals
• Conclusion
• References

Craniodiaphyseal
Dysplasia
• A very rare genetic disorder that features skull deformities (bone enlargements). Also known as CDD and Lionitis.
• Autosomal recessive bone disorder that causes calcium deposits to build up in the bones of the skull.
• Calcium deposits decrease the size of the cranium foramina and decreases size of cervical spinal canal. This eventually results in squeezing of the brain and spinal nerves.
• Severe Intracranial
Pressure arises from the lack of space for the nerves resulting in headaches, and many other signs and symptoms that eventually lead to death during the childhood years.

History of “Mask” and character
• Movie made in 1985.
• Roy “Ricky” L Dennis the boy the movie portrays, lived with a disorder that created severe deformity of his face, and ultimately took his life. He was born to a mother who later had issues with drugs, and older brother who dies from aides.
He had a family that was struggling, and had no additional room for any problems. His mothers friends where biker’s, and they became his support system.
• Craniodiaphyseal Dysplasia is the name of the genetic autosomal disorder that Roy was born with. It is also known as
CDD and Lionitis. This disorder is a very rare genetic disease that features skull deformities (bone enlargements). This bone disease is characterized when calcium is not carried away by the blood, and the calcium then builds up in the bones of the skull. These calcium deposits decrease the size of the cranium foramina and decreases size of cervical spinal canal. Infants born with this rare disease live to be a pre-teen or teenager.
• Roy the boy in the movie mask, started school at age 6 years, against M.D.’s advice. He faced alienation, criticism, humiliation, and many other types of discriminatory experiences.

• His family was informed he would more than likely die before age seven due from pressure in his cranium.
• He died at age 16 from complications of this disease.

Functional Assessments pg. 1
Health Perception/Health Management: --Imaging tests to confirm diagnosis include: Radiography imaging of the clients cranium, x-rays, monitoring thickness of facial bones, and with a major focus on assessing thickness of his or her mandible.
-Neurological radiography and, tests, need performed on an ongoing basis. In addition, MRI’s should be performed routinely to monitor for any changes relating to compression of nerves, and increase in calcium deposits.
- Intracranial pressure signs and symptoms such as: with infants drowsiness, separated sutures of the skull, bulging fontanel, lethargy, and vomiting. With older children they may have behavior changes, decreased alertness, a headache, seizures, vomiting, weakness, tingling, abnormal eye movements, and double vision.
-Facial paralysis needs to be recognized which can indicate compression of the trigeminal as well as the fifth and seventh cranial nerves.
-Delayed tooth eruption should be assessed regularly, auditory checks for hearing loss,
•Eyes- Ophthalmic assessments to monitor vision changes or loss. Character was legally blind from compression of optic nerve from disorder/ condition. Despite this, client had glasses which helped him to see. Client was able to read after thinking he couldn 't.
•Nutrition/Metabolic: Regular diet. Monitor for any swallowing difficulties as needed. As related to nerve compression of vagus nerve.

Assessments pg. 2 continued…
• Pattern of Elimination: Normal, should have regular urinary bladder and bowel movements daily. In the movie there was no indication of an issue in this area.
• Pattern of Activity/Exercise: In the movie client performed regular exercise and activity.
We as nurses would monitor for changes related to any nasal obstruction that could cause activity intolerance, or any change in our clients respiratory status.
• Conceptual/Perceptual Pattern: Monitor for an isolation or depression resulting from clients own fears or perceptions about disorder related complications. In the movie client became really good at making friends, as well as helping his friends cope with his disfigurement.
• Pattern of Sleep/Rest: Regular except when headaches create discomfort keeping client awake or awakening client. Pain meds must be given to address these concerns. Client in this movie ultimately died and his first sign was a headache. Client thought nothing of it as he had had these painful headaches many times before. There seemed to be an increase in frequency of these headaches towards the end, verifying nerves where becoming more and more compressed.

Assessments pg. 3 continued…
• Pattern of Self Perception/Self Concept: Low self esteem issues and depression resulting from not looking like other kids. Client in this move eventually strengthened his own sense of self, eventually leading him to
a point where he helped his peers accept his disease condition.
• Role/Relationship Patterns: Client in the movie was the son of a single mother, who at times was troubled by drugs and addiction. Client helps mother, advocates for mother, and at times is supportive of mother as a care taker himself. Client was a very calm and laid back type of person. He accepted all of his mother’s biker friends, and he himself adapted to their lifestyle. Client was loved by his and his mother’s circle of people.
• Sexuality/Reproductive Patterns: Client’s deformities throughout his face inhibited him at first from communicating openly with girls he found attractive. As time went on he became stronger and was able to develop a friendship with a particular girl. He knew exactly how others perceived his looks, and took initiative to help them cope. Client passed away before sexuality became a big motivator for him to conceive children. With his condition though, sexuality is very hard to express. It can become an isolative concern if a person does not have a strong sense of self.

Assessments pg. 4 continued…
• Patterns of Coping/Stress Management: The client in this movie was extremely resilient. He was able to overcome odds of being told he could never do certain things such as attend school, or read. He learned how to read, and read frequently even through legal blindness.
• Patterns of Values/Beliefs: Good overall values relating to kindness, respect for himself and others, family, etc. Was taught to believe and rely on himself by his strong willed single parent mother who was a very strong independent woman herself.

Analysis of Health Assessment
Normal assessment findings are:
Wide nasal bridge, eyes spaced apart wider than most people’s, prominent Mandible (jaw bone) thickening of bone to base of skull, normal Respiratory system, normal Cardiovascular system, palpable peripheral pulses, normal for clients to exhibit widening/flaring of distal femur and tibia, thicker than normal bone structure from calcium deposit build up, normal activity level, normal bowel sounds and appetite, normal bowel movements, normal urinary output, rom regarding joints, reflexes, and normal strength regarding muscle tone.

Abnormal or risk based findings are:
• Frequent recurring Headaches from pressure build up and nerve compression. Roy, in this movie, suffered from terrible headaches.
The night he died he laid down after having one which was the final compression that ended his life.
• Numbness or tingling of extremities (or any types of paralysis findings indicating compression of the spinal cord).
• Obstructed nasal passages
• Hearing loss
• Vision loss
• Epilepsy/Seizures
• Facial nerve dysfunction
• Severe facial deformity from calcium deposit build up
• Retardation/Low IQ
• Facial paralysis affecting first the mouth with lips drooping down at their corners, and lateral aspect of eye drooping.

Additional Observations:
• Cultural: Client is from and raised by a white family. He was raised with a

traditional American diet and lifestyle. Lots of beer and parties within mother’s group of friends.
• Geographical: Born and raised in Glendora California.
• Religious: Christian with beliefs in God, Son (Jesus) and Holy Spirit.
• Ethnic: White American upbringing.
• Spiritual: Traditional Christian values. God, son, and Holy spirit. Belief that upon death the person goes to heaven.
• Lifestyle: Mother was a dancer in her younger years, and loved motorcycles and the biker lifestyle. Mother also had an affinity for drugs, and struggled with these issues. Nursing Considerations
Nursing Diagnosis:
Ineffective cerebral tissue perfusion as evidenced by headache, related to cerebral edema.

Interventions:
1) Oxygen per nasal cannula (if order is available) or mechanical ventilation.
2) Raise Head of Bed to a 30 degree angle to facilitate less pressure of fluids going to the head.
3) Pain Medication (if order is available).

• 1) Health promotion: Treating pain.
• Readiness for enhanced comfort related to compression in cranium creating headache pain as evidenced by accepting pain medication around the clock.
• 2)Health Prevention: Parents to have genetic testing done before having a child. If child is born with this there are some surgeries to help decompress foramens, but the result is not likely to last.
• Readiness for enhanced knowledge related to genetic compatibility in preparation for family planning.

• 3)Maintenance: Low Calcium diet with low amounts of calcitonin and prednisone. With Craniodiaphyseal Dysplasia it’s important that the person doesn’t receive any extra calcium which would end up as deposits.
• Readiness for enhanced diet changes related to disorder processes as evidenced by body depositing too much calcium.

Referrals to Public Resources
1) Children 's Craniofacial Association (CCA)
13140 Coit Road
Suite 517
Dallas TX 75240
Phone: [phone] (toll-free); 214-570-9099
Fax: [phone]
Email: [e-mail] www.ccakids.com 2) International Skeletal Dysplasia Registry
UCLA
615 Charles E. Young Drive
South Rm 410
Los Angeles CA 90095-7358
Phone: [phone]
Email: [e-mail]
International Skeletal Dysplasia Registry

Conclusion
Roy “Ricky” L Dennis the boy in this movie “Mask,” was born with recessive genetic autosomal disease known as Craniodiaphyseal
Dysplasia. He was diagnosed with this disease at 4 years of age. At the time only 1 in 220 million births had this condition. He and his mother faced humiliation, and discrimination from the healthcare community and well as people in the community from mainly because of the way he looked. Roy himself became very self reliant, and was able to overcome many barriers that where in front of him. He lived to be 16 years old, with this disease. He touched many people’s lives with his sweet, kind, and friendly demeanor.

References:
• Crump, S. K., Schaffer, M. A., & Schulte, E. (2010). Critical care nurses ' perceptions of obstacles, supports and knowledge needed in providing quality end-of-life care. Dimensions of Critical Care
Nursing, 29(6), 297-306
• Jarvis, C. (2008). Physical examination and health assessment (4th ed.). Philadelphia: W. B.
Saunders.
• Orphanet.Craniodiaphyseal dysplasia. Website:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?
Lng=GB&Expert=1513. (2004).
• Wikipedia, the free encyclopedia. Mask (Film).Website: http://en.wikipedia.org/wiki/Mask_%28film%29. (2015).