Engelmann Syndrome

I got married on May 2004, and after 1 yr our sweet baby Aarya born, everything is normal and suddenly dr. diagnosed Engelmann syndrome in Aarya.
In Engelmann syndrome baby would be very sweet, and same aarya is very beautiful. Their face would be small as compare to whole body. There are therapies only the solution as of till date. There would be speech therapy, physical touch therapy etc.
Currently aarya is doing well, because of therapies she is able to walk and now she walks everywhere in the home and other places. She could now able to eat solid food , previously because of swollen problem she couldn’t able to eat solid food. Touch therapy is still going on and now she allows us to ware the cloths.
She is going to school now. She is roaming here and there in the house, she is eating solid food.
Some symptoms are there of Engelmann syndrome
1. Their mouth would be always open
2. They would have swollen problem, because of that they can’t eat solid food like bread etc.
3. They always laugh
4. Problem in walking
5. Lack of hearing attention, lack of concentration
6. They like water very much
7. They would be very beautiful
8. Head portion would be small as compare to whole body
9. Jerks might occur.

Little about Engelmann syndrome
Engelmann syndrome is a rare autosomal dominantIn genetics, a dominance relationship refers to how the alleles for a single locus interact to produce a phenotype. For example, flower color in sweet peas (Lathyrus odoratus) is controlled by a single gene with two alleles. The three genotypes are PP, Pp, and pp. The flower color for PP (purple) and pp (white) do not depend on the dominance relationship. However, the heterozygote Pp could theoretically have many different colors, e.g., purple, white, or a light purple. ...autosomal dominant genetic disorderA genetic disorder is a disease caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since conception. Some genetic disorders ...genetic disorder that causes characteristic anomalies in the skeletonIn biology, the skeleton or skeletal system is the biological system providing physical support in living organisms. (By extension, non-biological outline structures such as gantries or buildings may also acquire skeletons.) Many people consider the skeleton to be very scary.skeleton. Patients typically have heavily-thickened bones, especially along the shafts of the long bonesThe long bones are those that are longer than they are wide, and grow primarily by elongation of the diaphysis, with an epiphysis at the ends of the growing bone. The ends of epiphyses are covered with a hyaline cartilage ("articular cartilage"). The longitudinal growth of long bones is a result of endochondral ossification at the epiphyseal plate. Bone growth in length is stimulated by the production of growth hormone(GH), a secretion of the anterior lobe of the pituitary gland. The long bones include the femurs, ...long bones (called diaphyseal dysplasia). The skullThe skull is a bony structure found in many animals which serves as the general framework for the head. Those animals having skulls are called Craniates. The skull supports the structures of the face and protects the head against injury. The skull is made up of two bones: the cranium and the mandible. A skull that is missing a mandible is only a cranium; this is the source of a very commonly made error in terminology. Protection of the brain is only one part of the function of a bony skull. For example, ...skull bones may be thickened so that the passages through the skull that carry nervesA nerve is an enclosed, cable-like bundle of axons (the long, slender projection of a neuron). Neurons are sometimes called nerve cells, though this term is technically imprecise since many neurons do not form nerves, and nerves also include the glial cells that ensheath ...nerves and blood vesselsThe blood vessels are part of the cardiovascular system and function to transport blood throughout the body. The most important types, arteries and veins, carry blood away from or towards the heart, respectively.blood vessels become narrowed, possibly leading to sensory deficits, blindnessNo quick definition available. blindness, or deafnessThe word deaf is used differently in different contexts, and there is some controversy over its meaning and implications. In scientific and medical terms, deafness generally refers to a physical condition characterized by lack of sensitivity to sound. Notated as deaf with a lowercase d, this refers to the audiological experience ...deafness.
This disease often appears in childhood and is considered to be inherited. The disease is slowly progressive and, while there is no cure, there is treatment.
TGF-β2Transforming growth factor (TGF) is used to describe two classes of polypeptide growth factors, TGFα and TGFβ. The name "Transforming Growth Factor" is somewhat arbitrary, since the two classes of TGFs are not structurally or genetically related to one another, and they act through different receptor mechanisms. Furthermore, they do not always induce cellular transformation, and are not the only growth ... Engelmann Syndrome is somewhat treatable. GlucocorticosteroidsGlucocorticoids are a class of steroid hormones characterised by an ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids are distinguished from mineralocorticoids and sex steroids by the specific receptors, target cells, and ...Glucocorticosteroids, which are anti-inflammatory and immunosuppressive agents, are used in some cases. This form of medication helps in bone strength. In several reports, successful treatment with glucocoricosteroids was described, as its side effects can benefit a person with CED. This drug helps with pain and fatigue as well as some correction of radiographic abnormalities.

My experience in Pan card office

Yesterday I went to Pan card (nsdl) office to submit my PAN Card’s name change (as udule problem with PAN card), I faced tremendous problem. I went with my husband I was showing them my husband’s address proof but they wanted my address proof, I told them I am staying with my husband only, but they wanted my address proof strange.
Horrible experience for me, I was not only one other people had their problems.I would tell you before going to these offices prepare for all trouble. Before submitting any application please make sure you have proper proof of all their requirement otherwise be prepare for all mental stress.