Our Roller Coaster Journey with Turner Syndrome

Turner Syndrome

Life never stops surprising us, does it?

Hla’s Story

Hla, my beautiful 12-year-old first-born daughter, was diagnosed last October, with a rare condition called Turner Syndrome. Turner Syndrome affects about 1 in every 2000 baby girls. This syndrome is a chromosome abnormality that affects only females, caused by the complete or partial deletion of the X (sex/gender) chromosome.

As a mum who follows her instinct, I kept on chasing doctors for the past 4 years here in the UK, trying to figure out what was wrong with my daughter’s growth, sleep, mood, and many other things. They always told me that she was okay!

Eventually, they made a gene test last summer that showed a part partially missing of her X chromosome, which is called Mosaic Turner syndrome.

Of course, It hit us Hard!

After weeks of confusion, shock and heartache; I tried to pull myself together to be strong for Hla. I wanted to support and empower her in this long and hard journey.

We started medication straight away, the medication is a daily growth hormone injection for 3-4 years. As she grows, other hormonal treatments will follow.

Unfortunately, there’s no cure for Turner syndrome, but many of the associated symptoms can be treated with early intervention, appropriate medical care, and ongoing support. A girl with Turner syndrome can lead a normal, healthy, and productive life.

My goal is to spread awareness, not only for the girls and their families but also for professionals and doctors.

Even doctors still look for obvious body features of TS to suspect and do the test. It’s a bit tricky I know, but they should look closely because there are two kinds of Turner syndrome:

Classic Turner syndrome – where 1 of the X chromosomes is completely missing

Mosaic Turner syndrome – in most cells, 1 X chromosome is complete and the other is partially missing or incomplete in some way. However, in some cells, there may be just 1 X chromosome or, rarely, 2 complete X chromosomes.

Doctors should look closely for any other associated symptoms told by the parents.

Here are some of the symptoms of Turner Syndrome:

Being a small baby/child

Growth problems

Learning difficulties

Social intelligence difficulties

Attention and hyperactivity problems

Heart conditions

Kidney abnormalities

Ovaries abnormalities

Teeth problems

Eyes problems

Of course, there are many more symptoms that can be checked online.

Today, the 21st of June, is Turner syndrome Awareness day, I thought it would be a great chance to start telling people and spread awareness about it not only here in the UK, but most importantly in Egypt and the Middle East, hoping that could change the lives of young girls and their families to the better.

Follow Hla’s journey and for more awareness of TS here!

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