Hereditary multiple exostoses

[Ninagrrl]

I am a mother of a 4 year old special needs child. He has hypotonia, skeletal dysmorphia, a severe developmental delay and a bunch of behavioral issues. Because of this and some soft markers they decided to go ahead and give my newborn daughter a micro array test.

The good news is they think it's unlikely that she will have the same issues as my son. The bad news is they found a chromosome deletion that causes a condition called hereditary multiple exostoses. Basically it causes bone spurs to grow primarily on the long bones of the arms and legs. It can also cause short stature, bowing of the limbs and non symetrical bone growth. She also has a 1 - 20% chance of developing a cancer called chondrosarcoma.

Really I was fine at the doctors office which is normal because I don't show my emotions publicly and will hold it together until behind closed doors but I didn't think this was going to be one of those cases. My dad has been diagnosed with "calcified spikes" on his neck and although they cause him pain, I can't physically see them. I know I shouldn't care about the physical deformity as long as my daughter is healthy and free from pain but I figured these bone spurs were small. Until I looked it up and saw some pictures. I'm hoping I saw extreme cases and that my daughter won't have those issues because this world is extremely visual and I would hate to have her go through this, especially since they typically present themselves in early adolescence.

I was really hoping for good news, that this was just a formality. The soft markers that she was there for turned up with nothing so this was really just found because of the micro array. I'm having a very bad day and it's one of those days where you wonder if you really should have had kids. I love my kids but I would hate for them to go through life miserable. What are the chances of having two kids with separate physical deformities caused by genetics?

Has anyone here heard of this mutation? I'm hoping that someone can tell me they know someone with this and can tell me that the severity can be extremely mild. However, it's pretty rare and only happens 1 in 50,000 people so I won't hold my breath. I guess mostly this will end up being a rant. I don't know where to go since no one else in my life other then OH could possibly understand what it's like to feel like you possibly destroyed your children's lives simply by having them.

 

[purplerat]

Hi, I'm sorry to hear you're going through this. My OH has this condition, and his parents didn't know until he was 3. He has a severe form, and had many operations as a child, and a few as an adult as lumps have kept growing (usually they stop after puberty). From what him and his family have said, he missed some school and spent quite a bit of time in hospital as a child, but he has lead a normal life other than that. He went to uni, works full time and it has not stopped him living life to the full.

To be perfectly honest you cannot see the bone "Lumps" unless he takes clothes off. His legs and toes are the most affected but the only thing it has affected is his ability to run and he has a limited reach due to bowing of his arms. We have 2 sons and have been told there is a 50% chance they have it too! but we were told there is no test!

Just to add, my partner has had 28 bone growths removed and none have been cancerous. I hope your daughter doesn't develop the condition, but if she does it won't stop her leading a great life xx

 

[BlueHadeda]

I've never heard of this condition, so I can't give any advice. I really hope your daughter's case is very, very mild. No one of us wants to see our children hurt in any way.

Your post struck a chord with me, because currently, we've started investigations into why we have 3 children with different medical problems. We're hoping to find whatever is the common cause, because like the cardiologist said - it just isn't normal for one family to have all these different issues. So I understand how you must feel. It's really frustrating and sad and difficult. Can I ask, what's your son's diagnosis, has he had the micro array test? My daughter's geneticist is contemplating doing the micro array test, but it's not yet available in our country, so it's going to be expensive for us. I'd do anything though, to get some answers at this stage.

 

[Ninagrrl]

I've never heard of this condition, so I can't give any advice. I really hope your daughter's case is very, very mild. No one of us wants to see our children hurt in any way.

Your post struck a chord with me, because currently, we've started investigations into why we have 3 children with different medical problems. We're hoping to find whatever is the common cause, because like the cardiologist said - it just isn't normal for one family to have all these different issues. So I understand how you must feel. It's really frustrating and sad and difficult. Can I ask, what's your son's diagnosis, has he had the micro array test? My daughter's geneticist is contemplating doing the micro array test, but it's not yet available in our country, so it's going to be expensive for us. I'd do anything though, to get some answers at this stage.

My son had the microarray done almost 2 years ago but it came back normal as well as a Fragile X test that was also normal. It's strange to see that because he is so obviously disabled even as a newborn whereas my daughter looks and acts like a normal baby. So far they say that my son has an undiagnosed neurogenetic disorder. He has a whole bunch of physical and behavioural symptoms. We are still undergoing evaluations and testing to try and figure out what he has. The next step is to test him for something called Angelman Syndrome as he has over 70% of the symptoms listed for this.

Hi, I'm sorry to hear you're going through this. My OH has this condition, and his parents didn't know until he was 3. He has a severe form, and had many operations as a child, and a few as an adult as lumps have kept growing (usually they stop after puberty). From what him and his family have said, he missed some school and spent quite a bit of time in hospital as a child, but he has lead a normal life other than that. He went to uni, works full time and it has not stopped him living life to the full.

To be perfectly honest you cannot see the bone "Lumps" unless he takes clothes off. His legs and toes are the most affected but the only thing it has affected is his ability to run and he has a limited reach due to bowing of his arms. We have 2 sons and have been told there is a 50% chance they have it too! but we were told there is no test!

Just to add, my partner has had 28 bone growths removed and none have been cancerous. I hope your daughter doesn't develop the condition, but if she does it won't stop her leading a great life xx

If a microarray is available in your area, it will show the chromosomal deletions linked with HME. If they have the deletion then they have the disorder. 96% then go on to have symptoms and 4% are cases of atypical HME with no symptoms but still carry a 50% chance of passing it on to their children. That was in the packet of information we were given and were explained to by the genetic counsellor.

 

[BlueHadeda]

I've never heard of this condition, so I can't give any advice. I really hope your daughter's case is very, very mild. No one of us wants to see our children hurt in any way.

Your post struck a chord with me, because currently, we've started investigations into why we have 3 children with different medical problems. We're hoping to find whatever is the common cause, because like the cardiologist said - it just isn't normal for one family to have all these different issues. So I understand how you must feel. It's really frustrating and sad and difficult. Can I ask, what's your son's diagnosis, has he had the micro array test? My daughter's geneticist is contemplating doing the micro array test, but it's not yet available in our country, so it's going to be expensive for us. I'd do anything though, to get some answers at this stage.

My son had the microarray done almost 2 years ago but it came back normal as well as a Fragile X test that was also normal. It's strange to see that because he is so obviously disabled even as a newborn whereas my daughter looks and acts like a normal baby. So far they say that my son has an undiagnosed neurogenetic disorder. He has a whole bunch of physical and behavioural symptoms. We are still undergoing evaluations and testing to try and figure out what he has. The next step is to test him for something called Angelman Syndrome as he has over 70% of the symptoms listed for this.

That's really interesting. I've been worried that the micro array will cost us an arm and a leg (they send the blood to England), and then come back with nothing because my children aren't severely affected. My daughter had slight developmental delays, some birth defects, learning difficulties, speech delays and moderate behavioural and psychiatric problems. Only very slight dysmorphic features. So far, my youngest daughter seems to be the least affected, more like her brothers were.

I've heard of Angelman Syndrome, though I don't know much about it. Good luck, I hope you get some answers real soon. Sometimes, I think whatever my kids get diagnosed with, we'll handle it. As long as we can stop living in this uncertainty. But, I guess that's not really true. Some diagnoses are really scary. And sometimes I still hope that we don't have a common diagnosis that will affect all of our kids.

 

[Ninagrrl]

I'm glad we know that my DD has HME but it's also nerve wracking because it's mostly a waiting game now to see how this will effect her. I guess ignorance is bliss but I still think knowing (however torturous) is the better option. At least we will be monitoring her condition so that we can catch things early on. It's just a bit scary.

With my son, physically he is very healthy, the only reason to find out what he has is in case there are other complications that come with his disorder that may affect his life, like walking issues later on when he gets bigger/older due to the skeletal dysmorphia. It is always better to know then not knowing but I think knowing is harder because then it becomes real.

 

[purplerat]

Recently we've noticed my youngest son has a growth on his toe and it's bending off to the right slightly so we think he has HME too, just not sure of the extent, he also has a few lumps on his ribs but they are symmetrical so that may just be him. I would be interested in having them tested (mainly my eldest as he is not showing any signs yet). My partner is quite severe and I hope my son won't be to the sane extent x