A child born without an 'Immune System'.

      Have you ever imagined a situation whereby a baby is born without an immune system?, this is a medical condition called 'Severe Combined Immunodeficiency Syndrome' (SCID) and this is the case of Nina Warnell, a 17-month old baby born without "Body Immune System'.

  

(Nina)

Nina's body is unable to fight even mild germs meaning a cold could kill her, her parents are forced to dis-infect the house three to four times in a day. She was offered a bone marrow transplant but no 'match' donor could be found, she is currently undergoing a pioneer treatment which involves 're-engineering' of her bone marrow to add a vital missing gene and this treatment is hope to allow her develop her own immune system.

Nina is trialing a world-first gene therapy cure to ‘re-boot’ her body’s defense systems and give her the chance of life outside a sterilized environment.

Seventeen-month-old Nina Warnell suffers from Severe Combined Immunodeficiency Syndrome (SCID) - an inherited condition known as ‘bubble baby’ syndrome - which affects just one in 300,000 babies.

She has all the appearance of a healthy child but her body is unable to fight even the mildest germs - meaning even a cough or sneeze could end her life.

The radical new treatment - devised by doctors at Great Ormond Street Hospital, has its risks but Nina’s parents Graeme and Aga Warnell, from Maidenhead, have been left with few choices.

‘With Nina’s condition, you’re against a ticking clock,’ said Mr Warnell, 43, a real estate project manager. ‘If you don’t do anything within the year, the chances of recovery and survival are very limited. It is very rear that a child with this condition survives beyond two years if nothing is done. 

Nina was diagnosed in march 2012 after her mother noticed that she was sleeping too much and she was not feeding very well. At five-weeks-old she was admitted to hospital where doctors discovered that she had multiple infections including advanced pneumonia.

(Nina and her parent)

(Nina not feeding properly)

She was placed in isolation to stop her coming into contact with any more disease and the infections were tackled with a cocktail of antibiotics and anti-viral drugs. The family had to scrub down and wear masks and gowns before being allowed through an airlock-type room to see their critically ill daughter.

Things then went from bad to worse as doctors told them Nina needed an urgent bone marrow transplant for any chance of survival.

Both her sisters and parents did not match and so Mr and Mrs Warnell campaigned for the public to register as donors with the Anthony Nolan Trust and equivalent charities abroad.

(Nina after her birth, her mother believed her to be a healthy baby)

(Tests revealed that she was suffering from numerous infections. She was diagnosed with Severe Combined Immunodeficiency Syndrome (SCID) and put on the bone marrow donor list but no match could be found)

But with Nina getting worse by the day the family decided to move her to Great Ormond Street. Over the following months she slowly started to recover and finally put on weight and doctors managed to create an ‘artificial’ immune system for her.

She has to take 15 medications a day and immunoglobulin transfusions every three weeks to maintain it - but it is still very weak.

At this point, Professor Bobby Gaspar, a consultant in Paediatric Immunology, approached the family about the possibility of gene therapy - and things are now starting to look brighter. 

A team led by the professor is in the process of trialling a new form of gene therapy on the youngster.

(Nina undergoing Gene therapy to 're-boot' her immune system)

(Nina in a state of 'artificial immune system' created for her by the doctors using an extensive drug regime)

It is said that Nina is missing a gene which produces an enzyme vital to the production of a healthy immune system for her body.

The doctors have harvested her bone marrow and have re-engineered it using a new type of ‘reprogrammed virus’ to splice the vital gene she is missing into her DNA profile.

The re-engineered bone marrow has been re-inserted into her body and they hope a fully functioning immune system will develop.

Doctors estimate a 60 to 90 per cent chance of success.

Professor Gaspar told MailOnline that he hopes this form of gene therapy will be able to help many other children as well, and that it could eventually replace bone marrow transplants as the main form of treatment for children with immunodeficiency.

As part of the treatment, Nina underwent a session of chemotherapy to wipe her existing bone marrow so that the new one can grow in its place.

She has suffered sickness and lost some of her light-blonde hair in the process.

She also had to be housed in a sterilised room during treatment to minimize the risk of catching a potentially fatal disease.

There were several scares after she contracted a virus and the bone marrow

became contaminated with bacteria when it was inserted into her body.

However, Mr Warnell said that in ‘true Nina style’ she fought them off and her cell count started to move slowly in the right direction.

As this is a pioneering treatment, the long-term outlook for Nina is unclear and it could be months, years or even decades for side effects to surface.

Nina returned home last month but the family will not know if her body has started producing its own immune system until Christmas.

If the gene therapy treatment is found to be unsuccessful, Nina will require a bone marrow transplant.

Although a potential match has been found - this is not the preferred option as Nina would require more aggressive chemotherapy and face the risk that her body will reject the donor marrow.

Mr Warnell, who has another daughter, Megan, 11, from a previous marriage, said: ‘When I look back at the last year of what we’ve been through and what’s happened to our family, it’s very hard to describe. 

‘I can only really summarise it as like playing a record and someone just grabs the needle and pulls it straight off with a horrendous scratch and then there’s just silence.

(Nina and her sister, Mia who also had chemotherapy to wipe her existing bone marrow to allow for new bone marrow to grow)

However, the family have been buoyed by Nina’s ‘fighting spirit’ which has seen her battle through several close scrapes.

He added: ‘Nina has maintained this internal resilience, which has baffled some of the doctors, where by, she has fought through all of these things whilst having no real immune system.

‘There is no medical answer why, she just has a very strong constitution which has enabled her to survive.

‘She’s now, in a very strange way, a very confident baby, in that she’s so used to being examined by doctors and people looking at her, people prodding, poking her, injecting her, that she’s almost a child that welcomes any form of human interaction in the hospital, especially as when at home she’s quite isolated.’

Since Nina left hospital, the family have had to turn their house into a quarantine zone and must screen everyone, and everything, that enters the house

(Nina's father, Mr. Warnell cleaning his shoes)

Mrs Warnell, 39, said: ‘We sterilise probably three to four times a day and then anything that drops on the floor has to be washed and sterilised again.

‘There’s also obsessive hand-washing. This is a house of compulsive hand-washers, but it has worked, it has really prevented any infections.’

The barriers they have had to impose on Nina has been particularly hard on the couple’s other daughter Mia, three.

She has to have limited contact with other children because of the risk of picking up a cold.

Mr Warnell said he often sees her staring longingly out of the window at the other kids playing outside.

WHAT YOU SHOULD KNOW ABOUT SEVERE COMBINED IMMUNODEFICIENCY SYNDROME (SCIS);

*SCID is a genetic disorder which results in a poor antibody response to germs.

*It is the most severe form of primary immunodeficiency and can be caused by any one of nine different gene mutations.

*It is also known as the bubble boy disease because one patient, David Vetter, became famous for spending 12 years living in a sterile bubble.

*Patients are usually affected by severe infections early in their life - these can include; pneumonia, meningitis and ear infections.

*If left untreated, the babies usually die within one year.

*The most common treatment is a bone marrow transplant.

Read more: http://www.dailymail.co.uk/health/article-2363963/Baby-born-immune-given-world-gene-therapy-hope-re-boot-bodys-defences

   

Dealing With Sore Muscles and Joint Pain

            You work hard all week, so when the weekend finally rolls around you want to play just as hard. There's nothing like a few rounds of golf, a hike in the mountains, or an intense workout at the gym to reinvigorate you.

Weekend warriors be warned, though -- Saturday and Sunday activities can lead to Monday soreness.

What's Causing My Sore Muscles?

It's normal to have sore muscles after you work out, play sports, or even do housework, especially if:

a. You did an activity you're not used to (like running a marathon when you normally jog just a few miles).
b. You suddenly kicked up your exercise intensity level or increased the length of your workout.
c. You did eccentric exercises, in which you lengthened instead of shortened your muscle (like walking downhill or extending your arm during a bicep curl).
These changes to your exercise routine can lead to tiny injuries called microdamage in the muscle fibers and connective tissue. About a day later, you'll start to feel sore.

"We call that delayed onset muscle soreness," says Ethel Frese, PT, DPT, CCS, associate professor of Physical Therapy at St. Louis University. "It peaks within about 48 hours and then it will gradually get better."

The good news is that when you do the same activity again, your muscles will start to get used to it. "You will actually have no soreness or less soreness, because now you've strengthened the muscle or connective tissue," says Allan H. Goldfarb, PhD, FACSM, professor and exercise physiologist at the University of North Carolina, Greensboro.

What's Causing My Joint Pain?

When your joints feel sore and achy, that's usually a sign of osteoarthritis. This inflammatory condition becomes more common as you get older. The cartilage that normally cushions the joints wears away, leaving the joints inflamed and painful.

Joint pain can also be caused by overuse or injury -- for example, tennis elbow or a knee injury caused by a ligament or meniscal problem.

Treating Sore Muscles and Joint Pain

One big question a lot of people have when they're nursing sore muscles is whether to use heat or ice. Experts say indirect ice -- an ice pack wrapped in a thin towel -- is best for immediate relief. "Heat will feel good while it's on, but it's not going to lessen the damage or make it go away anytime soon," Frese says. Goldfarb recommends icing the sore area right after the activity to reduce inflammation, then using heat later to increase blood flow to the area. Heat also can help relieve joint pain.

If you get sore muscles once in a while, you can take acetaminophen (Tylenol) or a nonsteroidal anti-inflammatory drug (NSAID) like ibuprofen (Advil, Motrin), naproxen (Aleve) or aspirin to help relieve the discomfort. Just be cautious about using NSAIDs regularly. Long-term NSAID use can interfere with your muscles' ability to repair themselves, says Goldfarb.

Check with your doctor or pharmacist about any interactions these over-the-counter drugs may have with other medications you take. People with a history of certain medical conditions (such as ulcers, kidney disease, and liver disease) may be advised to avoid some medications.

Sometimes soothing sore muscles requires more than an ice pack or over-the-counter pain reliever. Muscle pain that comes on quickly and feels intense is a sign that you've injured yourself. Call your doctor if your pain is severe or lasts for more than a few days.

How Do I Prevent Sore Muscles and Joint Pain?

Experts used to recommend stretching before a workout to prevent sore muscles. Yet research has shown that stretching ahead of time doesn't do much to prevent soreness or injury. It's actually better to get in a good warm-up before you exercise and save the stretching for afterward, when your muscles are already warm, Frese says.

A couple of natural substances have been touted for preventing sore muscles, including antioxidants like vitamin C, but check with your doctor before taking high doses of any vitamin. Serious exercisers might find relief from post-workout soreness by beefing up on protein. A study of marines found that taking protein supplements reduced sore muscles after intense exercise. 

Ease Into Exercise and Check With Your Doctor

One of the best ways to prevent sore muscles is by easing your way into your exercise routine. "Start off with lighter exercise and gradually build up. Then you're much less likely to cause the microtrauma," says Frese. Goldfarb recommends increasing your exertion level by only about 10% at a time.

If you have a medical condition or you’re unsure about your health, check with your doctor before starting an exercise program. Your doctor can help you find an exercise program that’s safe and effective for you.

Remember, when you have joint pain, you may be tempted to curl up in bed. Actually, one of the best things you can do for your joints is to exercise. "Our joints need to move to get nutrition," says Frese. Weight-bearing exercises can help strengthen the muscles that support the joint. Just watch that you don't exercise to the point of pain.

It also can help to work with a physical therapist, who can show you how to exercise safely and how to maintain good posture so that you don't get injured or worsen joint pain.