The daily life with Cockayne Syndrome

The daily life with
Cockayne Syndrome
By Henrik and Louise Bindslev
Rossing
The Rossing Family - Denmark
• Louise 36 years – Nurse
• Henrik 38 years – IT director
• Together we have 3 children
o Jakob and Alexander both born with Cockayne Syndrome Type II
o Caroline who´s born without CS
What is Cockayne Syndrome?
Cockayne Syndrome (CS) is a rare genetic disorder characterized by poor growth,
microcephaly, progeria, sensitivity to sunlight, neurological delays and a shortened
lifespan. World wide there´s about 200-300 children with Cockayne Syndrome.
Jakob and Alexander are the only two boys in Denmark born with CS Type II.
What is Cockayne Syndrome ?
There is 3 types of Cockayne Syndrome
CS Type I is characterized by normal prenatal growth with the onset of growth
and developmental abnormalities around one year of age. The typical lifespan is
ten to twenty years.
CS Type II is characterized by growth failure and other abnormalities at birth,
with little or no postnatal neurologic development. The typical lifespan is up to
seven years.
CS Type III is characterized by later onset, lesser symptoms and/or a slower rate
of progression. The expected lifespan is unclear, but can extend to forty or fifty
years.
What is Cockayne Syndrome ?
Our two boys Jakob and Alexander born with CS Type II
Jakob passed away in June 2008 at the age of 4
Alexander is now 4 years and 2 months old
CS Characteristics
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Social, jovial personalities
Sunburns easily
Progeria
Microcephaly
Short stature
Contractures
Unsteady gait
Spasticity
Deep set of eyes
Dental caries/problems
Cataracts
Hearing loss
Poor circulation (cold hands and feet)
Feeding problems
Sleeping with eyes open
Tremors
White matter abnormalities
Basal ganglia calcifications
Signs of CS - premature aging
Cataracts
in his right eye
red eye reflex is missing
Signs of CS - premature aging
Alexander 4 years old
Signs of CS - premature aging
Dental problems, loosing hair and sleeping with eyes open
Autosomal Recessive Pattern
25% chance in each pregnancy to get a CS child
April 2004 and November 2005
Newborn
Jakob
Alexander
1 month old
Alexander
Jakob
3 months old
Diagnosed with Cataracts
in both eyes
Operated 3 month old
Jakob
Alexander
Jakob with his contact lenses
Strength +37
Jakobs glasses
6 months old
Jakob
Alexander
9 months old
Jakob
Alexander
12 months old
Jakob
Alexander
15 months old
Jakob
Alexander
18 months old
Nasal feeding tube before
Mick-Key tube
Jakob
Alexander
2 years old
Jakob
Alexander
3 years old
Jakob
Alexander
4 years old
Jakob
Alexander
Waiting for the diagnose
• Not knowing the diagnostic outcome is frustrating and takes its toll
• Relationships get pushed to the max-crisis/stress
• Dreams disappear for a second time round
• Now we have two handicapped children
• Hope remains that they both will become healthy
• 3 years waiting time for the final CS diagnosis
The diagnose means everything
• April 2007: telephone call from the USA: confirms diagnosis
• Death sentence for our children
• Expected age: max. 7 years
• Need to accept that your children will die before you
• No future together with the boys
• No future grandchildren
• Sorrow about what we are going to lose
• Powerlessness
• The waiting time is over
• Regardless, we are relieved that the waiting period is over
Patient association - USA
Our first meeting with other CS families and
their children. Helping children with CS and
their families improve their quality of life
through support, education and research.
2007 Boston
2008 Nashville
2009 Washington DC
Eden Elizabeth Carroll age 3
Jakob and his new girlfriend
Jakob & Edens first date
Boston 2007
CS Conference Washington DC
July 2009
Alexander’s Weight
Weight kg.
Date
Birth
1 month
3 months
6 months
9 months
12 months
15 months
18 months
2 years
3 years
4 years
Weight kg.
2,98
3,4
4,7
5,7
5,8
6
5,7
5,6
5,5
5,1
4,8
7
6
5
4
Weight kg.
3
2
1
0
Birth
1
3
6
9
12
15
18 2 years 3 years 4 years
month months months months months months months
Alexander’s Length
Height cm.
80
Date
Birth
1 month
3 months
6 months
9 months
12 months
15 months
18 months
2 years
3 years
4 years
Height cm.
50
51
58
63,8
66
69
69,5
70
70
70
70
70
60
50
40
30
20
10
0
Birth
1 month
3
6
9
12
15
18
2 years 3 years 4 years
months months months months months months
Alexander gets his Mick-Key tube
Mick-Key feeding
Tube Oct. 2008
Alexander with his Mick-key Tube
24 Hour Schedule - Tube feeding
Alexanders sondeplan
Infantrine
00:00
8
01:00
8
02:00
8
03:00
8
04:00
8
05:00
8
06:00
8
07:00
8
08:00
8
09:00
4
10:00
Vand
Saft
Yoghurt
5
Grød
Mos
25
11:00
12:00
25
5
13:00
14:00
5
25
15:00
16:00
5
25
17:00
18:00
25
5
19:00
20:00
20
21:00
8
22:00
8
23:00
8
ml.
170
25
0
25
25
25
kcal
170
0
0
25
50
37,5
ml. i alt
kcal i alt
270
282,5
Tube aid and Nutrition Pump at night
Alexander's help accessories
Pony Walker
Stand unit
Alexander’s help accessories
Hand rails
Panda chair
Bumbo chair
Filter glasses
Butterfly Walk October 2009
Skagen - Denmark
Butterfly Walk
Visit at Danish Center for Molecular
Gerontology - October 2009
People in our house
Grete
Support Educator
Cecilie
Handicap helper
Lise
Physiotherapist
Grete
Childcare supervisor
Sanne
Visual Consultant
Bent
Cleaner
Great people and their help is needed, but we have no privacy at all.
Institution in the home
Alexanders exercises in sensing:
Motoric Space
Physiotherapist 3 times a week
Live in the moment
• One day at a time
• Every day feels like a month
• Every month feels like a year
• Don’t let small things bother you
• No time to waste
• Be happy and positive
• Positive thinking
• Don’t look too far into the future
Cooperation between DK & USA
Professor dr. Med.
John Østergaard
Center for Rare Diseases
Aarhus, Denmark.
Dr. Edward G. Neilan, MD, PhD.
Children’s Hospital Boston
Caroline was the first child delivered who was tested for CS by a placental biopsy
Healthy siblings
Caroline Bindslev Rossing, born April 23 - 2009
More information at
www.cockaynesyndrome.dk
www.cockaynesyndrome.net
Thanks for your time