Genetical Disorders-Thalassemia

One important thing that couples should be aware before planning the kids is to go for Genetics counselling.


At the far glance, it looks not necessary and the numbers look really less, so we imagine we would never be trapped in those numbes. but, what if??? We cannot rule out the possiblity though it is less likely to happen. That is why, it is always recommended that we are aware of all the things to be better prepared to handle things.

Genetics couselling does help the couple to understand what to expect & what not in addition to the solutions offerable in any unlikely possible event.

May be i should put it in my own experience, so the parents out there can better relate it to themselves.

I happenned to take my elder daughter to her pediatrician for the MMR vaccination and upon general examination she asked me get HPLC & Iron serum binding tests done as her HB levels seems to be low. This test is not needed for every one with low Hb levels, but she suggested it because the kid was found to be on low levels in the previous examination aswell. She suggested that we get this test done to rule out any other reasons that are influencing hb levels.

So we got the test done & showed the reports to her only to hear that the kid is having the possiblity of Thalassemia intermediate and hell broke lose for us. The word seems to be too big and we never heard of it before. She tried her best to enlighten us on the issue and here are the details

Thalassemia beta is a genetic disorder that gets passed on to the generations only through genes & effects the formation of red blood cells. As the kid carries two sets of genes each from the parent, the severity of Thalassemia can vary based on the no. of genes mutated i.e Thalassemia Minor/Trait where one gene is mutated or Thalassemia Major if two genes are mutated.

Thalassemia minor is not so severe as healthy gene dominates the mutated gene and people effected with minor can lead absolutely normal life except that they need to get their blood levels checked from time to time & need special medical support during pregnancy & delivery. These cases normally go undiagnosied becaused of no visible symptoms and be mistaken as iron deficiency cases. One more important thing though to remember is to get married to a person who is NOT a carrier, to ensure that the next generations are not effected with serious form of Thalassemia i.e Major.
Thalassemia Major is a severe form of disease and is passed on to the kids if both parents happenned to be carriers. To break it down by logic, if both parents are carriers, they both carry one mutated gene and one healthy gene. Which means, there is 25% chance of being normal (Taking the healthy gene from each parent leaving aside the mutated), 50% chance of Minor (Taking healthy gene from one parent and the mutated gene from other) and 25% chance of Major (Taking mutated genes from both parents) which means 1 out of 4 can become Thal major effected.

There comes the importance of awareness. In our society, marraiges do happen by matching the social status, financial status & more over driven by physical appearance but no one really bothers about these things. So far, never seen an occassion where either side of parents are interested to get bride/groom's basic healthchecks done. The moment you ask for the healthcheck to be done, you can forget the proceedings on the alliance. In case of Thal, its really really important that two carriers are not getting married and thats the only way to curb it in the generations to come.

After explaining this, she asked us to get our tests done to see if either of us are carriers or both. If we both happens to be carriers, further prescribed to go for DNA analysis. This DNA analysis is done only out of genetics institutes one such is in Ameerpet, Hyd. So as a first thing to do, we both gave our samples and were asked to wait for 3 days for the results. I agree, i'm an educated person, but i'm a mother. I lost all my senses and just couldn't get myself alright for those three full days only to see that we both are carriers. What the hell??? If we both are carriers, its very well possible that Sanju can become intermediate/major and to even think about it is sending shivers down the spine. I searched for it over the net, and the health issues associated with Thal major seemed to be even more scaring. Enlargement of Organs, Regular blood transfusions, bone enlargements, chelations to extract iron deposits..what not??? And all these issues are we as parents passing on to the kid due to the lack of awareness? What about the younger one then? When its such serious, why i was not tested during pregnancy??? Why the society is unaware of this? Why we were not paying attention towards getting basic health checks done before finalizing on a match? I was extremely negative and started to blame every one & every thing in the reach within myself. But going by the same internet study, intermediate/major effected people do show up some signs but we dont see them in Sanju. So in one corner some thing was telling me that everything is fine, but reports have something else to say. how is it possible?

These reports have come while i was in office and as i heard the results through my husband, i couldn't hold myself. And, i didn't want to make it a big scene and draw sympathy (Ugh...hate it) or whatever, so i instantly sent an email to my director saying that i'm leaving due to ill health. As i was crossing the exit door, my boss was walking in and asked me if i can spare some time for a quick meeting. With a lot of difficulty, i gathered my words and told him that i was leaving for the day. He is smart. He quickly got hold of my mental status and insisted that we talk. We got into the conference room and i had to vent out whatever i had within. The instant advice from him is to go for second opinion. He knows a director from someother lab and spoke to him to arrange a personal counseling by the supervisor doctor. He assured me that everything will go fine after speaking her.

Next day, myself and my husband both went and met the doctor. She looked at the reports and told us that going by numbers Sanju is only a carrier but not an intermediate/major. Myself is a sure carrier, but my husband's readings are showing border-like numbers which in reality they consider as normal. She told us that we are very lucky to have a minor effected child despite me being carrier & the husband being in border line. However, she expressed a concern about the younger one and suggested that we get this test done to her immediately. She did explain the reports and completly ruled out the very thought of Sanju being intermediate/major. She said its ruthless to be written like this by lab people without proper knowledge and told us that report interpretation is more critical than the examination itself. So for now, we are at peace, We just have to see that Sanju is on good diet, get her tests done from time to time & get her married to a person who is not a thal minor which is after 20yrs. But the concerns about the younger one started mounting up and we thought we will get the test done as soon as possible.

As we were returning, my husband expressed that we better go to Institute of Genetics aswell for the reports interpretation just to be double confident. I agreed with him and we went there. The first doctor who saw the reports went by lab comments and said that Sanju could be an intermediate and we better get the DNA analysis be done to understand the status. Our spirits were down again. Only some time back the other doctor assured us that nothing to worry and now this??? We were referred to a scientist there. She saw the reports and the immediate reply from her is - "These reports are dirty, I dont see a relation in numbers". She then explained us that Hba2 numbers are critical to identify Thal conditions, but we must also see other proportions like fetal hb. Hba2 for all of us is more than 3.5 which is an indication for Thal possiblity, but fetal hb is absent for all of us which is in her terms "Stupid". Fetal gb should contribute for more than 9% while hb fragmant should be less than 85% which is not true in our reports. She told us that we should repeat these tests to clearly understand the situation. We have Sanju's exams going on during that time, so we thought we better get these tests done after the exams and got them done for all 4 of us during last week. And can you guess what reports have to say....All of us are completely normal, not even minors. Our HBa2 is less than 3, which means there is not even a remote possiblity of Thal be it Minor or Major. And the Hb fragmant contributions are all normal.  First is Sigh...what a relief. Next is Grr...We must sue that lab for this mental torture that we faced for last 4 weeks. Whatever, we got the results from an authenticated institute and we must agree that they are right. And the lesson learnt-  "Always go for Second opinion".

Having said this, don't you people think that genetics counselling is important before marraige, or if that seems to be next to impossible atleast before planning for kids? Yes, it is important. During our visits to Genetics institute, we were surprised to hear that all disorders that we see in kids are majorly passed on from parents with the combination of minor defects in one or both parents. And all this is due to inadequate awareness among the society. Thats a suprise. When a bundle of joy lays next to us in complete healthy state, we can't realize the pain that parents experience when the same bundle of joy is effected with birth disorders. And many of them need lifetime assistance or medical support and they can't enjoy the normal life. Doctors were clearly stating that they still see a lot of cases coming to their screening could have been dealt better if the parents approached them before planning kids. There are many techniques available for them to do prenatal screening & ensure that the fetus is normal and incase of any abnormalities, they explain the options to both parents and leave the decission to them to take & accept the risk. So its important that we make it a practice to get the basic health checks done (not just for mother) for both the parents, and approach the genetic couselling specialists as necessary.

Improving Child Immunity

What can you do to protect your child from the endless array of germs and viruses he's exposed to every day? 
Unfortunately, in some ways, getting sick when you're a kid is simply part of the job description. "We all enter this world with an inexperienced immune system.. Slowly, children prime their immunity by battling an ongoing series of germs, viruses, and other organisms -- which is why most pediatricians consider six to eight colds, bouts of flu, or ear infections per year normal.
But there are healthy habits you can adopt that will give your child's immune system a boost.

1. SERVE MORE FRUITS AND VEGETABLES
Carrots, green beans, oranges, strawberries: They all contain such immunity-boosting phytonutrients as vitamin C and carotenoids. Phytonutrients may increase the body's production of infection-fighting white blood cells and interferon, an antibody that coats cell surfaces, blocking out viruses. Try to get your child to eat five servings of fruits and veggies a day.

2. BOOST SLEEP TIME
Studies of adults show that sleep deprivation can make you more susceptible to illness by reducing natural killer cells, immune-system weapons that attack microbes and cancer cells. The same holds true for children. Children in day care are particularly at risk for sleep deprivation because all the activity can make it difficult for them to nap. How much sleep do kids need? A newborn may need up to 18 hours in a day, toddlers require 12 to 13 hours, and preschoolers need about 10 hours. "If your child can't or won't take naps during the day, try to put her to bed earlier.

3. BREST FEED YOUR BABY
Breast milk contains turbo-charged immunity-enhancing antibodies and white blood cells. Nursing guards against ear infections, allergies, diarrhea, pneumonia, meningitis, urinary-tract infections.The American Academy of Pediatrics recommends that moms breast-feed for a year at least.


4. EXERCISE AS A FAMILY
Research shows that exercise increases the number of natural killer cells in adults -- and regular activity can benefit kids in the same way. To get your children into a lifelong fitness habit, be a good role model. "Exercise with them rather than just urge them to go outside and play.

5. GUARD THEM AGAINS GERMS SPREAD
Fighting germs doesn't technically boost immunity, but it's a great way to reduce stress on your child's immune system. Make sure your kids wash their hands often -- and with soap. You should pay particular attention to their hygiene before and after each meal and after playing outside, handling pets, blowing their nose, using the bathroom, and arriving home from day care. When you're out, carry disposable wipes with you for quick cleanups. To help kids get into the hand-washing habit at home, let them pick out their own brightly colored hand towels and soap in fun shapes, colors, and scents.
Another key germ-busting strategy: "If your child does get sick, throw out her toothbrush right away. A child can't catch the same cold or flu virus twice, but the virus can hop from toothbrush to toothbrush, infecting other family members. If it's a bacterial infection, such as strep throat, however, your child can reinfect herself with the same germs that got her sick in the first place. In that case, tossing the toothbrush protects both your child and the rest of your family.

6. BANISH SECONDHAND SMOKE
If you or your spouse smokes, quit. Cigarette smoke contains more than 4,000 toxins, most of which can irritate or kill cells in the body. Kids are more susceptible than adults to the harmful effects of secondhand smoke because they breathe at a faster rate; a child's natural detoxification system is also less developed. If someone absolutely can't quit smoking, you can reduce your child's health risks considerably by smoking only outside the house.


7. DONT PRESSURE YOUR PEDIATRICIAN
Urging your pediatrician to write a prescription for an antibiotic whenever your child has a cold, flu, or sore throat is a bad idea. Antibiotics treat only illnesses caused by bacteria, "but the majority of childhood illnesses are caused by viruses.

Lastly, just ask your mom how much you troubled her, when you were so young ? Isnt it ? Dont get tired so easily. Remember you have to work hard to save your baby from all this atleast till he reaches five years, then gradually things will be better.
Once your child reached 5 years happily, atleast half work is done.
Hope these simple tips will help you.

Swimmer's Ear - Ear care

Essentials for Swimming

swimming ki swim diapers , baby floats , flotation swimsuits and sun protection products must.

Sun Hats, Sun Suits, and Rash Guards are a great way to boost your sun protection efforts.

u can also use goggles if ur kid allows.

u get swimming pool toys like foam numbers, plastic moulded toys, squirty fish ,swim rings and jumbo ball..

arm bands must that they can float properly.

swim caps to protect their hair from the water if the kid allows.

Swimmer's ear, also known as otitis externa, is a bacterial infection most often caused by excess moisture in the ear. The best way to avoid swimmer's ear is to keep yours clean and dry.
This may help you in avoiding it:
1. Keep the water out while you're showering: use earplugs or a shower cap.
2. Protect your ear canals when swimming. Wear earplugs, and resist the urge to take a dip in any polluted waters like ponds.
3. Take special care when cleaning ears. Wipe outer ear clean with a soft cloth wrapped around your finger. You don't want to disrupt the natural wax coating in your ear that protects against harmful bacteria.