Little Jamie Close a real little fighter and a real super hero in his fight with Cornelia de Lange syndrome

• Jamie is a little boy we have known since he was born, we have known his mum Carla most of her life, Jamie's grandparents George and Anna Maria are our very best friends,the one thing we have in common is we have a grandchildwho suffers with a rare disease, you would think this impossible but rare diseases can come to anyones door and the effects on the whole family circle is a living nightmare. From the minute you are told that your little boy or little girl has rare disease the lives of the whole family circle as a unit changes, rare diseases are not like other diseases where you know the outcome good or bad but in the case of rare disease you do not know what the outcome will be,.doctors who you look to for answers sometimes cannot give the answers you need to enable you to have a little hope and some understanding ,in the case of little Jamie he had to wait for many weeks before the doctors could tell what was going on with him, his mum spent every minute at his bedside and his grandparents took over when Carla needed a rest. We seen just how our friends lives had to change and how tired they all looked, rare disease was making its footprint, families with Rare Disease they learn very quickly that the life they once had has now gone. 

[Cornelia de Lange syndrome (CDLS), also known as Bachmann-de Lange syndrome, is a genetic disorder present from birth. In most individuals, CDLS is not associated with any family history of the disorder, but for others, siblings and/or parents may also have the syndrome. Researchers have identified a gene on chromosome 5 associated with CDLS. Symptoms
Many of the symptoms of Cornelia de Lange syndrome are present at birth. These include some or all of the syndrome's distinctive facial features:

• confluent eyebrows that appear arched and well-defined (99% of cases)
• long curly eyelashes (99%)
• low front and back hairlines (92%)
• turned-up nose (88%)
• down-turned angles of the mouth and thin lips (94%)
• small lower jaw and/or protruding upper jaw (84%).

Other physical abnormalities which may be present at birth or detected as the child grows may include:

• very small head (microcephaly) (98% of cases)
• eye and vision problems (50%)
• excessive body hair, which may thin as the child grows (78%)
• short neck (66%)
• hand abnormalities, such as missing fingers, very small hands, and/or inward deviation of the pinky fingers
• heart defects.

Infants with Cornelia de Lange syndrome are generally born small, sometimes prematurely. The infant has very tense muscles, has trouble feeding, and may have a low-pitched weak cry. Language and behavior problems
Infants with CDLS do not develop as quickly as other children. Most have mild to moderate mental retardation, but some may be profoundly retarded (IQ range 30-85). Because of problems with the mouth, [hearing impairment, and developmental delay, children with CDLS often have speech delay.
Behavior problems for children with CDLS may include hyperactivity, self-injury, aggression, and sleep disturbance. These children may appear to have autism due to a diminshed ability to relate to other people, repetitive behavior, difficulty with facial expression of emotion, and language delay.
Treatment
Treatment focuses on helping each child achieve his or her potential in terms of development and language, and medical care for physical problems. Infants benefit from early intervention programs for improving muscle tone, managing feeding problems, and developing fine motor ability. Life expectancy is normal if the child was born without major internal physical malformations such as heart defects. ]
Information for this article was taken from:
Tekin, M. (2002). Cornelia de Lange syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic482.htm