The Joy of Jacob: Irish Blessings

Saturday, March 16, 2013

Irish Blessings

Wishing all my fellow Irish family and friends (and those who wish they were) a wonderful St. Patrick's Day tomorrow, especially our little angel Jacob. I'm thankful for having a family that has always celebrated our heritage and taught me that family matters most. Missing you so very much little man and remembering you on your very first St. Patty's Day.

Our little lepra-cutie wearing his 'Wee Jacob' onesie. Yet, another one of Jakey's nicknames.

May the road rise to meet you

May the wind be always at your back

May the sun shine warm upon your face

May the rains fall soft on your fields

And until we meet again

May God hold you in the palm of his hand.

- Irish Blessing

Momma made you an extra special green St. Patty's surprise with a lucky clover and green glass "J"

Sláinte!

3 comments:

Dylan JelsmaMarch 18, 2013 at 1:17 AM
♥
ReplyDelete
Replies
Cathy JohnsonMarch 18, 2013 at 6:24 AM
Wee Jacob - what a perfect moniker for such a darlin' boy! Those eyes melt me every time, Sarah! xoxo
ReplyDelete
Replies
Shannon LaffoonMarch 20, 2013 at 7:10 PM
Happy st patty's day wee Jacob and fam. Lots of love always, xoxo
ReplyDelete
Replies

Add comment

Niemann-Pick Disease

Niemann-Pick Disease is a lysosomal storage disease, which causes fatty substances called lipids to collect in the cells of the liver, spleen and brain. The disease is genetically-inherited, but it is considered a recessive trait. In order for a child to have Niemann-Pick Disease, both parents must be carriers of a genetic mutation causing Niemann-Pick. There are three main types of Niemann-Pick Disease -- Types A, B and C. Types A and B are also referred to as acid sphingomyelinase deficiency (ASMD).

Genetic testing revealed that Jacob had Niemann-Pick Disease type A/B (also referred to as an intermediate form), which is a combination of the most severe and the least severe form of the disease. His body produced a very minimal (3%) amount of an enzyme called acid sphingomyelinase (ASM), which helps break down fat. Since Jacob’s body didn’t produce much of this enzyme, his body had great difficulty getting rid of ASM. The sphingomyelin had nowhere to go so it accumulated in his cells, eventually causing cell death and the malfunction of major organ systems.

Those with Type A typically live to be only 2 to 4 years of age, whereas, patients with NPB generally have little or no neurologic involvement and may survive into adulthood, though there may be health complications. Type B individuals usually have enlarged livers and spleens, and respiratory problems are common. The enlargement of organs and the respiratory problems can cause cardiovascular stress. With Jacob, it was unknown what the exact progression of his disease would be. Shortly after Jacob's diagnosis, it became apparent that his disease was presenting in a more aggressive form and he did have neurologic impact. There are approximately 1,200 cases of type A and B worldwide with the majority being Type B. Unfortunately, there is currently no treatment or cure for the disease and care is mostly supportive.

The Joy of Jacob

Saturday, March 16, 2013

Irish Blessings

3 comments:

Blog Archive

RESOURCES