Our Angels

You are listening to "Enchanting"

Our Three Angels
Gone home to God

Sisters Julia & Lyndsay

Born Feb19/1992 Died Dec.9/1992

Born Oct.8/1996 Died Dec./28/97

First Cousin Kathleen Born. Dec.30/2000 Died Nov.7/2001

My three grandaughters had Spinal Musuclar Atrophy Infantile

Background:Spinal Musuclar Atrophies

The spinal muscular atrophies (SMAs) are a clinically and genetically heterogeneous group of disorders. They are characterized by primary degeneration of the anterior horn cells of the spinal cord and often of the bulbar motor nuclei without evidence of primary peripheral nerve or long-tract involvement. Because bulbar features are often technically describe the disorder. Consequently, alternative designations, such as bulbospinal muscular atrophy, hereditary motor neuronopathy (HMN), and progressive muscular atrophy, have been used. The SMAs present with a diversity of symptoms and differ in age of onset, mode of inheritance, distribution of muscle weakness, and progression, of symptoms.

The fatal infantile form was described originally by Sevestre in 1899. Werdnig and Hoffmann described the disorder as having a late-infantile or early-childhood onset and usually are credited with the first description of the disease. (Werdnig-Hoffmann disease traditionally refers to the acute infantile form.)

The age of onset is the main feature distinguishing the infantile

The major difference between these types are the age of onset and the severity of the condition. Infantile spinal muscular atrophy (Werdnig-Hoffamann disease) is the most severe form of SMA. It usually becomes evident in the first six months of life. The child is unable to roll or sit unsupported, and the severe muscle weakness eventually causes feeding and breathing problems. These children usually do not live beyond about 18 months of age.

Is SMA inherited?

Every tissue in the body is made up of cells. Each cell has genetic material that determines how that cell (and hence our body) functions. The basic units of genetic material which are responsible for hereditary or inheritance are called genes. Individual genes cannot be seen even with powerful microscopes but the genes are located like beads on a string, on structures called chromosomes.

Most cases of spinal muscular atrophy are thought to be inherited in what is called an autosomal recessive manner. This means that one defective genetic message (gene) that causes the disease, has come from each parent. Boys or girls can be affected.

Every person has two copies of each gene (or genetic message), one coming from each parent. People who have only one abnormal gene for a particular condition, along with a normal gene, are called carriers. They do not develop the disease, as the normal gene counteracts the effects of the abnormal gene. If a person has two abnormal genes for a particular disease, that disease will develop. If two unsuspecting carriers of the abnormal gene for SMA have children, the chance of a child inheriting the abnormal gene from each parent and thus developing the disease, is one in four (25%). Parents who carry the abnormal gene will not be aware of this risk before their first affected child is born but thereafter they will have to consider the one in four risk of recurrence for each subsequent pregnancy.

At this time there is no cure for any types of SMA but this does not mean that nothing can be done. Much can be done to help the child develop to the greatest possible extent and to assist families to manage their child's problems.

Brothers and sisters who are not clinically affected have two in three chance of being carriers of one defective SMA gene. They will not pass the disease onto their own children except in the very unlikely event that their partner also is a carrier of the abnormal gene.Both would need have the exact same gene deficiency.

Spinal Muscular Atrophy

Canada or USA Make a Pledge for a Cure!

Click Maple Leaf