SlimmingWhirled and stuff

A Christian mother's notes on her battle with weight, MS, and life in general. With a generous helping of optimism and craft-work!

Thursday, July 27, 2006

Explanation on nephew's illness..

I just wanted to share what exactly is wrong with my dear nephew.

He was born with marfans disease which he inherited from his father.
(An inherited connective tissue disorder with characteristic skeletal, dermatological, cardiac, aortic, ocular and dural malformations. Caused by a variety of mis-sense mutations in gene encoding for fibrillin 1, an elastin-matrix glycoprotein essential for the formation of cellular microfibrils. The gene is located on long arm of chromosome 15. Pattern of transmission is autosomal dominant with complete penetrance. There is much variation in genotype. Phenotype varies within and between families with the same genetic abnormality, leading to protean and variable manifestations of the condition in given individuals).

Symptoms The condition can be asymptomatic. Patients are disproportionately tall and thin with unusually long arms and legs compared to their trunk (dolichostenomelia) and a 'cadaverous' physique. They often have long 'spidery' fingers and toes (arachnodactyly).

Hope that explains a little about marfan's for you ..

Now ontop of this he has already had one hernia operation when he was just a few months old. This went relatively smoothely and healed well.

Now he has a another HERNIA which has prevented him from feeding and also effects his breathing a little. He has a main tube feed which only specialist doctors and nurses can put in and is on a high calorie drip to help gain weight . As he is not strong enough yet to cope with operation.He has tubes coming out of eveywhere the poor thing.
His diaphram is perferated and stomach is squished through it, so stomach is either side of diaphram. I cannot explain it any clearer than this I am afraid.

Please continue praying for him as he is a frail thing fighting to stay alive...

19 Comments:

At 2:54 PM, Blogger Moomin said...

That is a clear explanation and he is very gravely ill waiting for the hernia operation. We are praying for your family. Keep the information coming.

 
At 8:40 PM, Blogger Phillip M. Way said...

praying here!!

~pastorway

 
At 5:16 AM, Blogger Clare said...

A little update.

Operation has been scheduled for two weeks time.
He is only 10lbs in wieght at 9 months!!
Consultant is happy he is steadily gaining wieght hence operation in two weeks.

 
At 9:35 AM, Blogger Susanna said...

Hello

Praying for the little man, and for his parents. I pray that you and FB will have the right words and encouragement to give. Maybe you should show them you blog and the people who are praying for them all.

 
At 8:14 AM, Blogger Stacey said...

Oh wow, I'm so sorry to hear about your nephew. I will be praying for this sweet little guy!! Know that you're not alone!!

 
At 8:22 AM, Blogger Just Nancy said...

More prayers being offered for your nephew.

 
At 8:26 AM, Blogger Dancing Boys Mom said...

His hernia is a congenital diaphragmatic hernia. (so you can look it up) My son had the same thing, though without the other chromosomal problems which can be common with it. I will be praying for your nephew and for his parents. It is such a horrible thing to go through.

 
At 8:30 AM, Blogger Tanya Nichols said...

Im praying for your nephew as well as his parents...Much Love and grace and healing to that family...

 
At 9:29 AM, Blogger Laura Talbert said...

Praying for all concerned!

 
At 9:53 AM, Anonymous Anonymous said...

I am praying for you all. My sis-in-law has Marfans in her family as well. It can be very difficult for all involved. I am grateful this little one has such a loving Mama. May you feel God's peace and the prayers of so many wrapped around you.

 
At 9:54 AM, Blogger no_average_girl said...

awww, this is so heart-breaking to hear about. Please do keep us updated!

 
At 10:08 AM, Anonymous Anonymous said...

Please know that I prayed for your nephew today. Right now I am watching my own 9 month old son sleeping contentedly. It breaks my heart to think of your nephew suffering. The Lord who is our Comforter will comfort him. I prayed that the doctors and nurses treating him would become the hands and feet of Christ and that he would have nothing but the BEST of care. Please keep us updated.

\ O / Mandi

 
At 10:40 AM, Blogger Aimee said...

Praying God's hands will surround your nephew and his parents and you . . . In God's hands we are in good hands!!!

- Just a Daisy in the Meadow

 
At 11:38 AM, Blogger Spunky said...

I prayed for him today. "The effectual fervent prayer of a righteous man availeth much."

 
At 1:13 PM, Blogger Randi said...

I will be praying for this sweet little guy!

 
At 7:34 PM, Blogger Carol said...

Praying for your entire family. What a terrible situation for you all.

 
At 3:07 AM, Blogger Clare said...

Thank-you all for your prayers.
He is loosing a little weight sadly but his operation will happen around the 14 th August.

 
At 4:16 AM, Blogger Anna said...

Poor little soul - he and his family are on my nightly prayer list!

A

 
At 9:19 AM, Blogger Matthew Celestine said...

I shall pray for him.

 

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