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Carrier Moms

For moms who are carriers of Duchenne

Members: 132
Latest Activity: Mar 16, 2016

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Carrier Who Decided to Get Pregnant Anyway

Started by Jessica Argueta Tucker. Last reply by Sif Hauksdóttir Jan 4, 2013. 16 Replies

3 sons with DMD

Started by Betty Vertin. Last reply by Laurie Barton Mar 14, 2012. 3 Replies

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Comment by Kathleen Drake on October 29, 2013 at 10:07am

I am a carrier mom and have two sons with Beckers. My oldest(20) is more affected than my youngest(14). Im curious if their symptoms will get worse the older they get. Anyone know the answer??

Devan(20) gets sore and tight muscles much more in cold weather. He had to be taken our of track meets several times as his muscles tightened so bad, he was unable to run anymore. Please share your info with me. I don't know anyone in my area who deals with this.

Comment by Trinh Nguyen on October 29, 2013 at 12:49am

Dear Andrea,

Thanks a lot. Yes, I understand in same way as you explain to me.

I sent e-mail to Ann and am waiting for her.

You're so kind and brave.

Trinh

Comment by Andrea Cleary on October 29, 2013 at 12:32am

Dear Trinh, please check with Ann Martin-genetic counselor, and Kathy Kinnet at the emails Kathy gave you below, as they are the professionals and can guide you better than I ever could. What I understand is that if your mother is not a carrier, then her sisters and their girls (your aunts and female cousins) do not need to be tested. However, as Gicela said, your mom might not test as a carrier in her blood, but only carry the mutation in her eggs. So it could be possible in that case (defective eggs) that your sisters may also be carriers like you, but just got lucky and by chance had healthy boys. Your sisters should be tested regardless of your mom's genetic result. Yes, your niece needs the test, but if she is young, then perhaps she doesn't need to get tested right away and they will rely on her mother's carrier status (if her mother is not a carrier, then the girl cannot be and does not  need the test herself). It might depend on where (country, health region) you have the testing done how they will proceed, if every one all at the same time gets tested or if they use a step by step manner (mothers first, then daughters based on the results of their mothers). And as you say, if your mom is a carrier, then everyone, her sisters and their daughters should be tested also. It is important for carriers to know as their own health can be affected (such as we need to see a cardiologist regularly). Lets keep our fingers crossed for your sweet Thuy who sent me the most lovely of birthday cards.I've read that for family testing they will only check for the known mutation that you and Thuc have vs. checking every one of the 79 exons, but I am not sure if this is the true in every case and all over the world.Of course in an ideal world, to be 100% safe, every single person would be tested to catch the 1/3 of cases of new, spontaneous mutations ( and that can be a DMD boy with no family history, or it can be a carrier like me with no family history) I'm sure Ann and Kathy will know. Ask them to see a pedigree chart, it will be easier to visualize. I hope I did not confuse you with my explanation, I'm tired :)  Ann and Kathy will help you or find someone else who can. It's information overload right now which is hard to process when you've just had the shock of finding out.Remember to be kind to yourself Trinh. Hugs.

Comment by Trinh Nguyen on October 28, 2013 at 9:54pm

Dear Andrea,

Thanks for quick feedback to me :-)

We are going to test for our mom. If she is, yes all her other daughters, her sister and her sister's daughters need to test for carrier. So far, non of them have Duchenne boy except me. I just want to make sure, if she is not carrier then all  will not need to test for carrier ? Or still we should test ?

Andrea, I have two more sisters who have healthy boys , but one sister has girl and I need to make sure she needs a test or not.

And one more question, just test for the same mutation which my boy got, right ? No need to test all exon ?

Much thanks for guiding me.

Trinh

Comment by Andrea Cleary on October 28, 2013 at 11:43am

Trinh, was your mother actually have the genetic test with a negative result, or are you assuming that she is not a carrier because there is no one else in the family with DMD? The answer to your question depends on these questions. If you say she is not a carrier simply because there is no family history before you and Thuc, it might just be by chance (if your mom is a carrier). Each boy from a carrier has a 50% chance of having DMD, and each girl from a carrier has a 50% chance of being a carrier. It could happen that just by luck each pregnancy resulted in the "good" 50%. But if your mom actually had the molecular testing and it came back that she is not a carrier, then her sister's and their daughters do not need to get tested. If you have sisters Trinh, they should get tested, even if you mom is not a true carrier, her eggs may have been affected (like Gicela's case). But I think if I remember correctly you only have a brother.

Comment by Gicela Longo on October 27, 2013 at 11:33pm

'Dear Trinh.

Can't say if female's on your Mom's side should be tested.  I do know that none of my Sister's sons have DMD.  Although my test results showed that I was not a carrier, I was told that I produced eggs that had the deletion in the gene.

Hope this helps.

Comment by Trinh Nguyen on October 27, 2013 at 11:19pm

Hi,

If my mom is not carrier, but I am, do her other daughters, her sister and her sister's daughters need Gene test ?

Tks

Comment by Trinh Nguyen on October 22, 2013 at 3:34am

Dear Gicela,

Thanks for sharing with me.

I had talked to HIM over and over praying for my little children then I blamed HIM over and over. I am so sorry that I had such feeling. We are now praying together, and I can find the connection inner my family to struggle in the journey.  Wish I could reach the peace which strengthens your soul. Thanks. 

Comment by Gicela Longo on October 19, 2013 at 10:18am

Dear Trinh.

Your pain is understandable and it's something we all felt when learning of our child's diagnosis. My daughter Kelly is a "manifesting" carrier who periodically deals with stiffness and cramping.  What's so strange about her diagnosis is that when I was later tested, the results showed that I wasn't a carrier.  Even knowing this, I still believed that there was something I did either when I was pregnant or when she was an infant that caused her condition.  In short, my thoughts took over logic and I tortured myself for a long time adamantly believing that I was at fault. This went on until I found a Spirit filled church that helped me to discover that God is in control and that He will deliver us from pain and suffering if we trust in Him.  Since then, I've been in peace and my 11 year old is flourishing.  Kelly loves life and understands so much more than I ever did at her age.  What I'm saying is that God's plans are perfect and if we trust in Him and know that He is in control, we will begin to see His hand in our children's lives.  I no longer fear for Kelly or blame myself or anything for her condition.  Know that she is in God's loving hands, I'm at peace.  I hope and pray that you and your family find beautiful peace and be blessed with the gifts God has for you.


Staff
Comment by Kathi Kinnett on October 18, 2013 at 8:12am
Trinh -
Ann's email is Ann@parentprojectmd.org
Mine is kathi@parentprojectmd.org
 

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