Holt-Oram

For people affected by HOS

A site for people who have or have an interest in HOS.

Latest Activity

Paul Hammond and Monica McGarry are now friends
31 minutes ago
Becca Evans commented on Becca Evans's blog post Our Gorgeous Boy
"Thanks Martina x"
Jul 9
Martina commented on Becca Evans's blog post Our Gorgeous Boy
"I am so sorry Becca. I send my encouragement and support. Take care"
Jul 6
Geraldine Lane posted a blog post

Becca's inspiring fundraising despite the tragic loss of the baby she and Paul love so much

My lovely daughter, Becca (founder and administrator of this brilliant website) has posted about the tragic loss of Lentil Bear.  Her sister, Mia has written a blog which I would love to share with you all.  Please take time to read it.  http://www.cupcakemumma.co.uk/2015/06/guest-post-by-mia-lane-my-amazing.htmlSee More
Jul 1
Becca Evans commented on Becca Evans's blog post Our Gorgeous Boy
"Thanks Kassy x"
Jul 1
Kassy M commented on Becca Evans's blog post Our Gorgeous Boy
"I am so sorry for your loss. I couldn't imagine. <3"
Jun 30
Martina is now a member of Holt-Oram
Jun 27
Kassy M is now a member of Holt-Oram
Jun 21
Becca Evans posted a blog post

Our Gorgeous Boy

It is with immense sadness that we need to let you all know that Lentil Bear Evans was born at 00.09 on the 14th of June 2015. He was 8lb 11oz and completely gorgeous. Lentil had no signs of HOS. He didn't suffer at all but died during delivery. We don't know why it happened but he will always be loved and cherished. We are just so grateful for the time that we spent with him and wish it could have been longer.We had such amazing care from the staff at Derriford hospital and we'd like to show…See More
Jun 21
Paul Hammond posted a discussion

ASD linked with HOS

Hi everyone, I was just wondering if there is anyone who knows if HOS is linked in any way to Autistic Spectrum Disorder? My son, who has HOS, has been told he shows signs of ASD. His behaviour is very difficult to deal with. He is 7 years old and I have no idea if his behaviour will get worse with age, or whether the HOS will effect him more later in life, like the teenage years. If enyone has any advice, I would be very grateful.
May 25
Becca Evans commented on Paul Hammond's blog post intro
"When I was younger I fell on my face all the time! My school bought a crash mat (like a big thick gymnastics mat) in the end. Once a week I stayed after school and had lessons in falling over! I'd get pushed over from different directions onto…"
May 24
Paul Hammond commented on Paul Hammond's blog post intro
"He has abnormal shoulders (not sure about dislocated) which he seems to just get on with. His arms are thinner than normal, I guess he maybe missing muscles. He did suffer with it when he was younger, as when he tripped and fell, he lacked the…"
May 4
Becca Evans replied to Becca Evans's discussion Baby items for the thumbless
"I was also worried that I'd struggle to hold the baby in the bath and wash him or her but then I found this, a bath support from Mothercare http://www.mothercare.com/Mothercare-Ergonomic-Bath-Support/265758,default,pd.html"
May 4
Becca Evans commented on Paul Hammond's blog post intro
"Hi Paul, It's interesting that you've been told that HOS weakens as you go down the generations. I've been told the opposite and I've also been told that there's no pattern! I don't mind you asking at all. Both my arms…"
May 4
Paul Hammond commented on Paul Hammond's blog post intro
"Thanks Becca. I wasn't too much of a surprise to find he had heart issues, as I had similar problems from birth. But I was a shock when he was born without a thumb. When we were told about Holt-Oram, there was no need for blood tests to see…"
May 4
Becca Evans replied to Becca Evans's discussion Baby items for the thumbless
"The bath was another item that was worrying me. We have quite a small bathroom, I couldn't work out how I would lean over the bath to wash the baby or lift a baby bath to fill and empty it. Then I found someone selling one of these second hand!…"
May 4

Members

 

What is Holt-Oram syndrome?

Also known as heart-hand syndrome this condition has a lot of different permutations. People with HOS often have upper limb growth abnormalities which can range from being very minor to having parts of arms / fingers / thumbs missing. Often the collar bone is also quite small. In about 75% of cases the heart is also affected, this can be in a variety of ways, ranging from normal function to VSD / ASD, conduction disorders, holes in the heart etc.
Holt-Oram is listed as a rare disease and is estimated to affect 1 in 100000 individuals. HOS is caused by a mutation of the TBX5 gene, this mutation can occur in people with no history of the mutation in their family. HOS is an autosomal dominant disorder which means that only one copy of the mutated gene needs to be passed on in order for a child to inherit the condition, this makes it a 50% chance that the condition will be passed on to children.

This information has not been put together by a health professional, this is simply my understanding of the condition I have. If you feel that there are mistakes in what I have written please let me know and if you want more detailed information please see one of the links.

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Forum

ASD linked with HOS

Started by Paul Hammond May 25.

Baby items for the thumbless 9 Replies

Started by Becca Evans. Last reply by Becca Evans May 4.

Hey :) 1 Reply

Started by Rhiannon Lucas. Last reply by Becca Evans Apr 20.

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