Monday, March 19, 2012

DiGeorge Syndrome Symptoms

"Hey Dad, I just threw everything on the floor"
        DiGeorge Syndrome symptoms are usually pretty suttle and are not  recognized until later in life. But there are some  very obvious symptoms that are apparent at birth. Before doctors would take each symptom and give it a separate condition. But the root of  all these conditions is the partial deletion of chromosome 22. Hence-22q11 deletion syndrome. There are, what I call slang terms, to call this syndrome, but DiGeorge Syndrome is the common name, some others are-
  • VCFS
  • CATCH22
  • Cayler cardiofacial syndrome
                          
                    DiGeorge Syndrome symptoms vary for each individual. For my son Luke, the most obvious symptom  were  the holes in his heart, a cleft ear, and also he has a third nipple. I don't know if this can count as a DiGeorge Syndrome symptom. It doesn't seem that common, but you never know. from what I have read, DiGeorge Syndrome effects 1 in 4000 people and the numbers are probably more because of the symptoms being so varied. But here are some of the most common symptoms for DiGeorge syndrome.
  1.  Heart problems. [One of the more prominent symptom ]
  2. Facial disorders. [Cleft pallet-nasally voice, cleft ear [Luke had]
  3. Low T-cell count
  4. Hearing problems
               These  are the most obvious symptoms, some of the rest of the symptoms are found out as the person matures.
  • Learning Disorders
  • ADD
  • immunity deficiency
  • Behavioral Problems
  • Mental Illness
               Remember, these are only a few of the DiGeorge Syndrome symptoms. Also it is not usually hereditary. If you need more information on DiGeorge Syndrome, I left a link in my Discovering DiGeorge Syndrome post that is an excellent resource. There also is an awesome forum wee went to that is specifically for DiGeorge syndrome. The people are going thru the same experience with DiGeorge Syndrome and answered questions and supported us morally to with sharing their experience with us . I suggest you check it out.         http://www.vcfsef.org/

video  
Meet The Family!

Sunday, March 18, 2012

Affordable Kid Toys

I probably bought the owners of all these toy stores a brand new BMW with all the money we have spent on toys for my son. Don't get me wrong, I love to see the joy on my sons face when we get him an affordable kid toy. I bet if I had a dollar back from every toy we bought him, we could buy a new car ourselves. One thing I do give my wife credit for is saving a bundle of money through on-line shopping and on-line coupons. I honestly don't know where she finds all the deals that she digs up. One of the better places we get coupons for is the childrens place. The childrens place printable coupon offer some pretty good money saving coupons that are only offered on-line. A lot of stores offer printable coupons that you can not get but on-line. Especially on larger priced items. The coupons are not only limited to toys but also for food and clothing. I just wish she could find some coupons for gas the way prices are now. But I will stick with the affordable kid toys.    

Friday, March 2, 2012

DiGeorge Syndrome In Children

DiGeorge syndrome in children is uncommon and is the effect an abnormality of chromosome 22, resulting in a absence of certain genes.  DiGeorge syndrome can be found by using a checklist of certain different signs and symptoms.  DiGeorge syndrome (also named congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a  birth defect  that can be effected by an  abnormal chromosome  and can affect the baby's immune system.

A child with DGS have a thymus gland that may be underdeveloped or even totally deleted.  Children who are slightly or severely ill at the time the vaccination is scheduled should probably wait until they are better.  Children with DiGeorge syndrome should not be around crowds or other places where they can get infection.

Genetic counseling and testing is a must for a woman with DiGeorge syndrome who becomes pregnant, because the DiGeorge syndrome in children can be detected prior to birth.  Genetic counseling is recommended for parents of children with DiGeorge syndrome because the disorder can be detected prior to birth.  Genetic counseling and testing is recommended for a person with    DiGeorge syndrome who becomes pregnant, because the disorder can be detected before to birth.
In no more than ten percent of cases, a human with VCFS inherits the deletion in chromosome 22 from a parent.  Ninety percent of people with total repair as a baby develop a progressively leaky pulmonary valve as the heart grows to its adult size but the valve does not.  Almost ten percent of children who devolop the features velo-cardio-facial syndrome do not usually have a deletion in the chromosome 22q11.

Immune deficiency of how bad, hypocalcemia (which may lead to seizures) and hypoparathyroidism are some of the leading features of DiGeorge in children, (although not of  Shprintzen syndrome which is characterized more by cleft palate and speech difficulties).  Immune deficiency is usually not the most common anomalies in VCFS, but the problem is usually the hardest to deal with for the effected person and their families.


The disorder in children is usually found  by identifying birth defects characteristic of complete DiGeorge, including heart defects, low levels of calcium, from the result of the missing parathyroid gland, esophageal abnormilities and facial defects such as low-set ears, wide-set eyes and a tiny jaw.  DiGeorge syndrome causes migration defects of  neural crest -derived tissues, particularly affecting development of the third and fourth  Branchial pouches. All of the SCID abnormalities lead to low T cells and many types of SCID are in common with impaired production of T cells. For more info you can check out the mayo-clinic. I also have another post on symptoms.  Keeping your house clean of dirt and mildew helps to stay healthy also.