The Harmony test

What is the Harmony test
The Harmony test - also known as Non-Invasive Prenatal testing or NIPT - is a blood test which can test for various genetic abnormalities including Downs Syndrome, Edwards Syndrome and Patau Syndrome. It is being rolled out slowly in the UK to replace the CVS and Amnio testing usually done after your 12-week scan.
The Harmony test can be taken as early as 10 weeks into your pregnancy and has a false positive rate of just 0.1%. With the Harmony test, you can expect to receive your results within 10 working days.
One of the great things about NIPT it completely eliminates the risk of miscarriage for fetal testing, which with Amniocentesis is 1% and CVS is 2%.
What is Amniocentesis?
Amniocentesis is one of the current procedures used to diagnose genetic abnormalities in an unborn baby. The procedure involves taking a sample from the amniotic sack that surrounds and protects the fetus. It can be dangerous though as a slight miscalculation can cause irreparable damage to the sack resulting in miscarriage.
What is CVS?
Chrionic Villius Sampling - or CVS - is another procedure offered by the NHS currently to diagnose genetic conditions. This procedure involves taking a sample from the placenta and of course carries the risk of damaging the placenta meaning a miscarriage occurs.
What are the perks of having the Harmony test?
Besides carrying no risk of miscarriage there are several other perks of having the Harmony test during your pregnancy.

  1. Is done early as to make an informed decision - There is no judgement here on Raising Harry. We understand that having a child with special needs is a personal choice and feel that by having the test early you can do all the research you feel you need to to make an informed decision and that is exactly why we started this website. It's nothing to be ashamed of.
  2. Can test for other things - With the Harmony test, you can also get what is called X Y testing which means that you can find out the gender of your baby but it also tests for things such as XXY.
  3. Low false positive rate - With being over 99% accurate you can trust the information you are given.
How has the development of the Harmony test affected children with special needs?
The development of the harmony test in different countries has affected the rate of children with special needs born.
Termination rates for downs syndrome
U.K - 90%
France - 77%
U.S  - 67%
Denmark - 98%
Iceland - 100%

But why are the termination rates so high? I think, honestly, it's fear and misinformation. And that is why I wanted to start this website, to show the positives of having a child with special needs.


I am all for the Harmony test, from my personal point of view it is a good thing if having a child with special needs is something you feel strongly about, and the main positive for me is the fact that there is no risk of miscarriage makes this the best thing, and while it is not available on the NHS at the moment if you can afford it (runs at roughly £400 for the testing and  private scan) I would highly recommend getting it.

Dear Harry

This posts will pop up every so often. I was always determined that Harry will know his whole story, from the moment we were given his diagnosis and so I started writing to him. I made him an email address which I will give him when he is older and he can read from the very beginning.
However, I thought it might be helpful to put a couple on here and this one is the very first from the day we got his diagnosis.

Dear Harry,

Wow, what a journey this has been. You were born last Thursday and already your dad and I cannot believe how lucky we have been. Waking up that first morning without you was the hardest thing I have ever done, but knowing that you were getting the best possible care is what has been keeping me going. I can't thank the wonderful nurses who are looking after you enough for what they are doing.
On Friday we met Dr Jones. He told us what he suspected and you had to have blood taken to confirm, and today we got our confirmation. You have Down's Syndrome. Writing those words have been hard for me and I have to be honest, your dad and I cried our eyes out when we had a chance to process the information, but I want you to know that it doesn't change how much we love you. You are our entire world and we just couldn't imagine life without you. I hope that you never felt, growing up, that we have treated you any differently or you have felt that we have loved you any less than we could have because I honestly don't think it's possible to love anyone or anything as much as we love you.

Until next time my darling boy

Mummy xxx


Six Myths about Downs Syndrome

When we first learned that Harry has downs I thought about all the things I thought I knew about it. Turns out I was wrong about quite a lot! Here are some things that people always think about when they hear downs syndrome.

  1. Someone who has downs is always happy – What a load of tosh! People who have downs syndrome are no happier then people who don’t! I can promise that Harry has had as many temper tantrums and hissy fits in his 16 months as other babies in our family’s. People with downs syndrome are just that. People! They aren’t some kind of rare species who only have one emotion. So why do people think that? I honestly have no idea to be honest.
  2. People with downs cant have jobs or live independently – Ha! This is just... Wow. And I’ve lost count of the amount of times people have said that about Harry to me. It really gets me frustrated. People with downs may need a little help, some may even need a lot of help but lets not put them all in one group yeah?
  3.  Children with downs syndrome are born to older parents – When I had Harry I was 23. When I refused the blood testing at 12 weeks I was told it doesn’t matter as I wasn’t at risk anyway. WELL... yeah. You can have a child with downs syndrome at any age. I didn’t want the test because it didn’t matter to us. If it matters to you take the test.
  4.  People with downs syndrome don’t live as long as people without – This used to be true. Not because people have downs, because there was no support. Fifty years ago if a child was born with downs syndrome they were put straight into a home or asylum and refused medical help for any issues. This isn’t the case anymore and people with downs syndrome can live as long as anyone else.
  5. People with downs syndrome are overweight – Again a load of toffee! Some people with downs syndrome may appear slightly overweight but this is caused by the low muscle tone which can be a symptom of downs syndrome.
  6. People with Downs syndrome cannot have children – This one upsets me. Some one with downs syndrome is perfectly capable of having children. Harry however is more then likely infertile due to his Klinefelters, not his downs.
These six points I feel at incredibly important to remember about someone with downs syndrome but the most important thing to remember of course is that they are not defined by their diagnosis just like someone with cancer isn’t ‘that guy with cancer ben’ Harry isn’t ‘that boy who has downs syndrome Harry’ He’s just ‘Harry’ He’s not downs. And he isn’t the amazing little person he is because he has downs. He’s just Harry. Just like I am Kat and you are you. So the next time you meet a person who just happens to have downs syndrome, take the time to get to know them and don’t judge by their diagnosis.

What is Klinefelters Syndrome?

Klinefelters syndrome is a genetic syndrome caused by a male having two X chromosomes, also commonly called XXY or Double X Syndrome. Usually a female has two X chromosomes (XX) and a male has one X and one Y (XY). Having an extra X chromosome does not mean that someone who has Klinefelters is not male because they still have that  chromosome.
Symptoms of Klinefelters include;  
  1. Learning to crawl, sit up, walk and talk later then others - This like downs syndrome is caused by low muscle tone and doesn’t mean that boys who have Klinefelters will never be able to but just may be a little slower.
  2. Quiet and passive personality – Not necessarily true and anyone who has met Harry will completely agree with that!!! However boys with Klinefelters have been known to be quieter and more passive then other boys their age, although this can just be shyness!
  3. Learning difficulties – Issues with reading, writing and spelling. Also boys with Klinefelters are also commonly diagnosed with dyslexia
  4.  Height – How jealous I am of this!! Me with my tiny 5”1 height! Likelihood is though Harry will be very tall!
  5.  Reduced facial and body hair – May be less but may also just develop later.
  6. Wide hips and in severe cases breasts develop.
  7.  Low sex drive
  8.  Infertility
  9. Small penis and testicles

While some males who have Klinefelters will experience all of these symptoms some will have few or none. There is no guarantee and some males go undiagnosed until issues with fertility or other issues.
Health issues are also common with Klinefelters as the risk is slightly higher especially for certain issues such as;
  1. Type 2 diabetes
  2.  Weak and fragile bones
  3. Cardiovascular disease
  4.  Blood clots
  5.  Under active thyroid
  6.  Anxiety
  7. Depression
  8. Male breast cancer

Again none of these are guaranteed.

Klinefelters is incurable, however it is manageable with things such as testosterone therapy (usually given vial injections) to help the body with its lack of testosterone physio therapy to help with muscle tone development and breast reduction.

Not much more is known about Klinefelters, and Harry having both Klinefelters and Downs is incredibly rare (we worked it out as chances of having a child with both at my age being about 1 in 4.5 million) and so not much is known how it will effect Harry is the future and so we are just taking  everything as it comes.


Have You Read...?

Where It All Started

Birth Story

Harry's birth story seemed like a fitting first post on here. Bear with me because it was written months ago. More posts to follow ever...