New blog page for women

[Travzw]

Good afternoon. Someone commented that I should include information for women with AMN on my blog. I have created a new page solely for women. Check it out

amnandme.com/blog/women-wit...

[SongStream]

This is highly informative but please credit the Stop ALD Foundation (C) 2004 - All Rights Reserved.

stopald.org/frequenly-asked...

[Travzw in reply to SongStream]

Done.

[SongStream in reply to Travzw]

Hope I didn't appear brash. It's just that I'm sensitive to copyrights in general being that I compose music. Cheers!

[Cherie]

Could you please mention that it isn't just men who have amn resulting from de novo genetic mutations.Thank you

[jolocny Volunteer in reply to Cherie]

That’s my, and many others, situations! Thanks!

[Hillary]

Hi, looked at your blog for women who suffer from this hideous condition, it is good but you could also include things like PGD in your section on women carriers having children. My daughter, who is a carrier, had a little girl 18 months ago via PGD, Pre implantation Genetic Diagnosis, to prevent my grandchild being affected. This was done at Guys Hospital, London, but is available in many hospitals.

Every little bit helps, making one place to go to, for information, is good. As a femail carrier who has lost a brother and son to ALD, had a daughter who is a carrier, we can now rejoice that we have stopped this condition in our family.

Hillary

[Travzw in reply to Hillary]

I will look into the information and include it.

[jolocny Volunteer in reply to Hillary]

Congrats, Hillary!! My daughter was pregnant when she was tested. Thankfully, she’s not a carrier, otherwise she’d planned to abort.

I’ve heard some talk about the PGD being a terrible way to control our (and any) disease - don’t see that! I understand why my daughter decided to abort if she was a carrier (I’m very symptomatic) but it also was painful!

[Hillary in reply to jolocny]

So pleased for your daughter Jolocny, I would have supported her too. It's hard as parents knowing what this condition is like. My daughter was tested when her brother was diagnosed, she was only 13 so we played it down till she was older. Obviously, it was hard for her when dating as she had to explain to potential husbands that having children was not going to be easy. By this time we had worked out that my brother had died from ALD in 1954 and she had seen her brother die.

[jolocny Volunteer in reply to Hillary]

Having seen her brother pass made it very hard, I'm sure, Hillary! I didn't even find out that I was a carrier until I was in my mid 40s, so the whole thing was crazy from the start. I have 5 unaffected siblings.

I'm so glad that the PGD is available! When is she due? So exciting!

JoAnn

[Hillary in reply to jolocny]

Elin is 18 months now and a little minx, it's fantastic to know that she will never have to worry about having children or becoming disabled when she is older. I know people say you shouldn't mess with nature, they have obviously never lost a child to an incurable condition, or even spent a day at a children's hospice.

[jolocny Volunteer in reply to Hillary]

That’s wonderful!! I know you enjoy her!! Still, so sorry for your loses.

[Shelcee in reply to Hillary]

I am a female carrier and have now had two children via IVF and PGD, they are now 12 and 8 years old. It is a relief to know that they will not have to deal with this disease having lost a brother, an aunt and a cousin to it. I am now also suffering from symptoms. PGD is widely used in Australia for families that need it, terrible to hear people don't see it from our side, PGD is a relief for many of us with these terrible genetic conditions. I hope anyone else in our/my predicament can go on and utilise PGD to have their families

[monmon]

Thank you! Would you also be so kind to remove that ‘mild’ pls. It brings misconception... my mum has exactly your symptoms and she’s on a wheelchair. Many women suffer a great deal. Nope, that’s no ‘mild’...

[Hillary]

Hi monmon, mild it definitely isn't! I have just spent the day in my chair as I can't walk outside the house. The pain is no joke and as for the spasms, I won't comment as we all know what they are like.

[monmon in reply to Hillary]

Sorry to hear that Hillary. The ‘mild’ problem is that’s how our phenotype is described in many websites (well, given they are all ‘copying and pasting’ each other...). Whenever I come across it, I get in touch and make them aware. I’ve become a ‘mild’ pain in the a*se 😆

[tieaknot in reply to monmon]

It certainly is frustrating (the “mild” annotation. I know when women with AMN are first often misdiagnosed with MS...it is considered a “devastating and potentially disabling” diagnosis...and yet with the same signs and symptoms many times, when the diagnosis is found to be AMN...it suddenly becomes described as “mild”. It is true that it might often be less severe than boys and men with ALD/AMN, especially the cerebral type, but a “mild” case of horrific is still pretty rough!

[Travzw]

I added moderate to it. I know that the information and studies for women is still slowly progressing so don't hold any information I can find against me. It's also true that a lot of the women only start having mild symptoms. My mother for instance (undiagnosed) has had very mild stiffness for years now and mostly when she is inactive. She tells me that when she's at work she has no problems moving but when she is home relaxing and gets up it's a little slower for her to get moving. It's all about the person. Just like with me, I was recently diagnosed with lymphedema and have yet to see anyone else with lymphedema on top of the disease. Thank you all for supporting my venture and also think more of the big picture when it comes to information because we can only know what people are telling.