Digeorge Syndrome

The disorder known as Digeorge Syndrome is a form of genetic, chromosomal and a primary immunodeficiency disease. It is popularly known as 22q11.2 syndrome because a tiny part of chromosome 22 is not present. Mostly visible in infants and in small children and stays for a longer period of time sometimes seen the entire life. Creates abnormality in body parts and consequences include calcium imbalance, heart defects, cleft palate, late development of several body parts and poorly grown eyes, ears and nose. Other broad names of digeorge’s syndrome are Velocardiofacial Syndrome, Sedlackova Syndrome and shprintzen Syndrome. Approximately 85-90% syndrome of people holding this condition have deletion on the 22nd chromosome and 10-15 %happens because of 10p13. Children with diabetic parent/s especially diabetic mothers, have more chances to get Digeorge syndrome. To control this disease, it needs to notice symptoms early and the next step should be instant treatment. Though it is a rare disease with 1-2 cases in 4,000 – 5,000 people, when it happens it changes the mental and physical condition of the patient totally. Also, because of Digeorge syndrome behavior also remains different.   DIGEORGE SYNDROME TREATMENT

• Before the emergency, precautions must be taken and on time Digeorge Syndrome treatment can save a child’s life and puts a break in formation of multiple defects in the body.
• Repetitive hearing tests, use of hearing tubes and contacting ENT specialists can minimize the symptoms of listening and other ear problems.
• By arranging teachers for challenging students at home or schools for challenging students can help them build confidence and encourage them to grow.
• Blood tests on a regular basis and by tracking weights and heights of children can help parents in next treatment and other requirements.
• If a child is finding it difficult to talk then hire a speech therapist for digeorge syndrome .
• For the improvement of body postures and movements, discuss and take suggestions from physiotherapists.
• Take advice from cardiologists for heart surgery or heart scan.
• For overall health and maintenance reports, pediatrician is a good option to talk to.
• Hypoparathyroidism can cause serious problems in parathyroid glands so your child should be immediately checked by an endocrinologist.
• During Digeorge syndrome thymus infection is repetitive and to avoid the growth of infection, a time to time vaccine for digeorge’s syndrome  must be given to the child.
• Curable surgeries are also available for cleft palate and nasal speech.

Symptoms

In some children symptoms are visible during birth while in others it risen during childhood or puberty so it depends on person to person, some of them are below : 

• Ear issues – Person find it difficult to listen to some sounds and voices of other people.
• Heart defects – Can create hole in the heart of chamber
• Faulty speech – Difficulties occur during speaking some words.
• Hypocalcemia – Sudden fall in calcium level and fluctuation of calcium in the body
• Impaired kidneys
• Autism – changes in behaviour, communication disabilities
• Hypoparathyroidism
• Uneven Chin
• Short body height
• Bone problems
• Spine problems

Immune systems and organ systems play a huge role in detecting Digeorge syndrome symptoms in people.

Causes

In children with Digeorge syndrome, around 30-40 genes are absent. Also, may be TBX1 gene, and occasionally COMT (missing gene) both can also activate this and makes it more risky and dangerous.

It is not necessary that family history or parents only pass this disease to the kids sometimes it happens without any reason or with hidden reason. But there is a possibility that the person can handover this disease to its next generation.

Other factors involved which causes Digeorge syndrome are fertilization of eggs by combining with sperms and during fetal development.

FAQ

1. WHAT IS DIGEORGE SYNDROME’S LIFE EXPECTANCY?

If the dangerous heart defects or kidney problems are there and treatment to the patient is very poor then life expectancy of a person suffering from Digeorge’s syndrome is very less or almost zero. So if the Digeorge syndrome’s symptoms are less, then there is no need to worry and one can live with this syndrome healthily by extra care.

2. CAN DIGEORGE SYNDROME BE PREVENTED?

If parents or family history doesn’t have Digeorge’s syndrome then it is possible to control the disease easily but can’t be vanished. But if any of the parents or family members are affected with Digeorge’s syndrome then chances to stay for a very long time, even for life increases tremendously. If a couple is planning to have a baby and both or any one is affected with his disease then to take advice from a doctor is very important to save the life of the baby.

3. DIGEORGE SYNDROME’S PROGNOSIS

People who go for frequent checkups, for blood tests, once a while for treatment and diagnosis can easily live normal lives along with the disease. Prognosis is totally based on the number of organs and body parts partially or fully linked with Digeoreg’s syndrome.

4. HOW IS DIGEORGE’S SYNDROME DIAGNOSED?

Some people have heart defects while others have facial features so if a person is diagnosed prenatally then it is well and good. Starting from common lab tests to FISH analysis to further detect other genes presence. Patients with heart problems can go for electrocardiogram, x- rays, CT scanning, fontan operations, angiography, MRI. Above all these, if other major complications arise do contact a trustworthy doctor.

5. WHAT POPULATION IS AFFECTED WITH DIGEORGE’S SYNDROME?

About 1-2 people in 4,000 people, so it is very rare.

6. ARE THERE PRENATAL TESTS FOR DIGEORGE’S SYNDROME?

FISH (Fluorescence in situ hybridization test) and PCR (Polymerase Chain Reaction) are the best to detect digeorge’s syndrome prenatally.

7. HOW DOES DIGEORGE SYNDROME AFFECT THE IMMUNE SYSTEM?

As people with this disease don't have T – cells, it affects directly to the whole immune system and that’s why for diegoreg’s syndrome thymus transplant and stem cell transplantation are highly recommended.

8. HOW TO MANAGE HYPOCALCEMIA IN DIGEORGE’S SYNDROME?

First of all, PTH levels and serum calcium both are necessary and then by providing relevant calcium rich supplements such as VITAMIN D can normalize the calcium level and if the child is not lactose intolerant then by giving milk and dairy products in meals is also a natural and beneficial way.