And yet Charlotte is almost two years old.

Hello, a lot of people say she looks like a porcelain doll

And she just looks very, very delicate.

Charlotte and her family are about to embark on a journey to find out why she is so incredibly small.

They’ll face the fear of their tiny daughter undergoing surgery.

It’s scary, i suppose first time i’ve been done.

Meet other families who also have children with restricted growth, but she’s the boss, and they’ll consult medical experts to get their daughter’s extremely rare genetic condition diagnosed.

Primordial Dwarfism

I’m surprised that my sister has got primordial dwarfism, because there’s no one else that i know of in my family has got primordial dwarfism.

Both parents have to be carriers of the primordial dwarfism gene for them to have a child with a condition.

For children like Charlotte, what we predict has happened is that both parents have passed on the change gene, and so she has two changed copies of the gene and no normal copy of the gene, and therefore this has resulted in her having the condition and being so small.

So when two parents are carriers, it’s completely normal to have a normal-sized child or children, and then the child with primordial dwarfism sort of comes down to the blue.

Really, Charlotte has been small since birth, weighing less than two pounds.

That’s three times lighter than the average newborn baby girl.

Now, despite being almost two, she tips the scales a little more than seven pounds the weight she should have been at birth.

She’s only 22 inches tall, so children her own age, like her playmate Dexter, seem like giants next to her.

She’s grown nothing really compared to what you’d expect a normal two-year-old to measure at the age of two.

She is still newborn size, and when Charlotte’s, compared to children even younger, like her six-month-old cousin Rebecca, the difference is even more noticeable.

I may tell this off.

Try it on you.

What’s he doing?

It’s too big.

It’s just like a living dog.

I dressed my sister in my Dolly’s clothes.

Shopping for a two-year-old who’s only the size of a newborn is difficult for mum, Emma and Grandma Linda.

Life itself is so different from a normal child.

Newborn clothes, which is a milestone for us to have got into newborn clothes because it took us so long to get right premature.

That’s so cute?

No, no, if it was in newborn it’d probably be all right.

Just look at those.

I know they’ve got all their blood together, won’t they?

Do you imagine what’s gonna be like when she’s 15 years old and we still have to bring her to mother care and places like that to be able to get her clothes.

You’re gonna have to learn to sew.

Learning to adapt to Charlotte’s size is the least of her family’s worries, because as yet doctors have been unable to pinpoint exactly which conditions Charlotte has.

This means her future is unknown.

It’s very difficult to make a definite diagnosis for a child who appears clinically to have primordial dwarfism.

It’s quite often the case in genetics that we’re not able to make a diagnosis immediately on a newborn baby.

Primordial dwarfism is as an umbrella term and it’s got a number of different subcategories, and these different sub categories do have a different life expectancy for the children.

I’ll put suckers on.

Charlotte may have a rare form of primordial dwarfism called Mopd type 2.. this condition affects approximately 100 children worldwide.

Children with type 2 can suffer from brain aneurysms which cause strokes.

The only way to detect and then treat the aneurysms is to have regular mri brain skins because Charlotte’s not been diagnosed yet.

Charlotte cannot have the mri Scan purely because she doesn’t have a diagnosis.

If she’s to get a diagnosis of Mlpd2, then she can have the Mri scan to detect whether she does have any start of any sort of aneurysms or anything like that.

If Charlotte does have this condition, as long as she has regular mri scans, there is hope.

So the life expectancy in Mopd 2, i think, is perhaps changing a little bit.

In the last couple of years we’ve made some strides in determining what are associated medical complications and are working to try to fix those problems so that they don’t in fact take lives away.

It really doesn’t they’re thinking about, doesn’t the fact that we might not have her exactly?

Charlotte Garcia has an undiagnosed form of primordial dwarfism, age two.

She weighs the same as an average newborn baby, but her size is not the only thing that makes her different from her peers.

Good morning, Charlotte.

You’re okay.

You’re gonna do some good work today.

Developmental Delay

You look at her when she was in her incubator and she just looked all skin and bones.

The best way to describe her would be that she looked like a skinned rabbit.

Her legs were as thin as your fingers and she she just looked like if you picked her up, she would have just snapped in two.

She was so small, but i did think that maybe the worst could happen.

You know, did it mean that she’s not gonna live?

But it wasn’t just Scott and Emma was shocked by Charlotte’s size.

Her three older sisters were amazed that at just 10 inches long, Charlotte was the same size as their Teddy bears.

In this picture, Charlotte’s got that little Teddy bear.

It showed me how smart she was, because she was just a bit bigger than that and you would think for a normal baby that she would be so smart.

Scott’s parents rose and Frank feared the worst.

When they first saw their tiny grandchild, i just didn’t know whether she was going to survive or not, you know, but not knowing what she had.

But you know at the time they didn’t say it was dwarfism or anything, and when i first seen it just laid there, the shock, just sort of like, set me back a bit.

While Charlotte’s family feared for her life, doctors thought her size was due to a rare genetic condition.

Dr Emma Hobson, a clinical geneticist, was called in to give her expert opinion.

When i first saw Charlotte, i felt that the diagnosis was very likely to be a form of primordial dwarfism, firstly because of her tiny size, then because of her appearance.

She had quite a prominent nose and little small eyes and a little chin, and these various features, although taken in isolation, are, are perhaps part of the normal range.

When, when they’re put together as the total appearance, her face very much suggested that was going to be the diagnosis, automatic reaction was to walk out of the hospital.

Fun, Scott, and i just burst into tears on the front of Scott- says: you better get here now.

It’s just the same.

There’s something wrong with Charlotte.

I didn’t want to make it seem real.

I suppose i didn’t want it to be real- that there was something wrong with her.

I just wanted her to have looked the way that she did, because she was just small.

Charlotte spent the first three months of her life in hospital and when she came home she still weighed little more than two pounds.

Charlotte’s condition means that you know she’s genetically predisposed to grow at a slow rate and be a small person, like most children with this condition.

Charlotte’s slow growth was further hindered as she was having difficulty digesting milk and the trauma of constantly being sick led to her refusing her bottle.

She walked up in her mouth.

For any food she’s got a locked jar and she just keeps a jar lots he can’t open it.

When Charlotte was four months old, she was fitted with a nasogastric tube through which a high-calorie nutritious formula could be fed via her nose directly into her stomach.

Well, the way i eat is i eat through my mouth and it goes down through my foot, but the way my sister eats it goes straight through a nurse as a short-term measure we quite often use in babies than is a gastric tube, but on a longer term basis.

That that’s not very satisfactory and it’s easier and better for the child if we can directly put the food into the tummy and that’s done through the gastrostomy tube.

Today Charlotte’s in hospital to have her nasogastric feeding tube removed and to have a gastrostomy.

This surgical procedure will insert a feeding tube directly into her stomach.

I won’t be able to count on my hands how many times she’s been in hospital, because she’s been in hospital that many times.

Since birth, Charlotte has gained less than five pounds, the equivalent of two bags of sugar she is being weighed so that the anaesthetist can calculate how much anaesthetic she will need being put under.

General anesthetic presents more risks for Charlotte because she’s so small, paying patients a bit apprehensive.

I just want everything to go our care to make sure nothing initially goes wrong and that she’s just, she just gets through it

Okay

And there’s no problems initially with the operation itself.