Carrier and trying to start a family

[AnxiousIVFer]

Hi everyone. I'm new here. I'm a female carrier who found out a few years ago when I lost my dad to AMN. I was fortunate to have found out prior to thinking about starting a family. I've already done 2 cycles of IVF + PGD (to prevent passing it on to my offsprings) with poor outcomes (no pregnancies). I'm losing hope and I am worried to conceive naturally because like many of you I am worried about passing on the gene. Just wanted to see if there is anyone else there in the same situation so I don't feel as alone.

[LessThanRich]

I had a vasectomy so I can't share my genes... Happily I don;t have kids already, phew.

[AnxiousIVFer in reply to LessThanRich]

Thanks for sharing, LessThanRich.

[Aaron98]

I'm sorry for what you are dealing with, AnxiousIVFer. ALD/AMN runs through my family extensively. My grandfather and great-uncle had AMN (both deceased), my mother, two aunts, my sister, and my first cousin, once removed were all female carriers. A male second cousin died from childhood ALD. I have AMN, and my infant daughter is a carrier. My wife and I haven't decided yet when will be the appropriate time to tell our daughter about the risk of her passing on the gene mutation to her children.

I don't really have any suggestions for you on family planning. My sister has known that she is a carrier for many years, but she and her husband decided together to go ahead and have biological children, despite the risk. They have two sons, both without the gene mutation. She is currently pregnant with their third child. I think it's a bit risky, but it is their decision, and they have gone into this with their eyes wide open.

Please feel free to continue to ask for suggestions here, or just to vent, if you need to. We all need support. I'm glad you found this group.

[AnxiousIVFer in reply to Aaron98]

Thank you so much for sharing you and your family's story, Aaron. I really appreciate it. I'm sorry to hear that this disease has affected so many of your loved ones. The decision about when to tell your daughter must be a very difficult one. Like Leab said in her comment below, I hope that in the future they will have other options available for your daughter so she does not have to go through what we need to go through. This is such a personal decision and I am glad your sister was able to have 2 healthy sons! I wish her all the best with her current pregnancy.

Thank you for your support and I am really glad that I found this group.

[easygoin1]

Hello,

My niece is a carrier and decided to have biological children after her step daughter and now has 2 boys, the first is free from the gene, the second got the gene and is now about 7 or 8 with no signs of childhood ALD so it appears that it will be AMN as his Grandfather had and I have. The defect started with a genetic mutation with my Mother. When my Mother was near the end because of the Leukemia she developed I overheard her say to her cousin that she felt bad that she had passed the genetic problem on to us and her cousin told her that without her we would not have had life at all, so she should not feel bad! That was a very profound statement, I thought, and spoke greatly to me. My Mother had no idea of the defective gene when she had us and we were fortunate to have AMN rather than ALD. 2 of her boys got the defective X chromosome and 1 got the healthy chromosome. We lost my brother with AMN when he was 49, and didn't know of the genetic problem when he had children, and I, almost 11 years younger, am now 52. I don't have any biological children and had decided that when I first learned of the genetics, but I have step children.

I apologize if this doesn't seem very clear, but I hope you can gain a small bit of insight from my post!

Be well and have a great evening!

[Aaron98 in reply to easygoin1]

I apologize if this is a difficult question or brings up painful memories, but would you mind sharing what resulted in your brother's death? 49 seems quite young to die from pure AMN without cerebral involvement. My grandfather passed away at 67 from AMN - he had just grown weaker and weaker over several years. I read fairly often about men of all ages with AMN dying, but it isn't always clear if they actually have adult CALD or pure AMN. Thanks for your help!

[easygoin1 in reply to Aaron98]

Hello Aaron,

It was almost 14 years ago now and the doctor he had was even less informed about our illness than you would expect for the time. He was suffering with extreme neuropathy and his doctor was treating it with opioids even to the point of giving him morphine and that is hard on the body. He had been on Lorenzo's oil and the diet as an attempt to deal with the illness, but that is hard on the heart for adults and he had ended up having to have a triple bypass a few years before he passed. He developed cellulitis and ended up in the hospital and his doctor either didn't know or didn't care and wasn't giving him extra hydrocortisone as we with Addison's know that we have to have if we are sick. So it was a combination of poor doctoring at the end and the previous damage to his heart which then couldn't deal with what was going on that were the reasons, I believe, for his passing. So it was a bit scary for me when I was approaching 49 thinking that it was going to go the same for me. When our endocrinologist had encouraged me to go on the Lorenzo's oil diet as well I said no it was too restrictive on what you can consume, and after my brother had passed he said that it was a good thing that I hadn't because it is too hard on the heart for adults.

I pray you are doing well Aaron, and I pray that there is some furthering of treatments for our illness!!

Be well and have a great day!

[Aaron98 in reply to easygoin1]

Thank you for sharing in such detail, easygoin. I really appreciate it. I'm so sorry for the loss of your brother.

[AnxiousIVFer in reply to easygoin1]

Thanks for your response, easygoin1. It is clear and thank you for sharing. I especially like how you said: "without her we would not have had life at all, so she should not feel bad!" That is very true and profound indeed! I just recently found out from my mom that my dad was very sad at the end of his life that he has passed on his genes to me. I wish someone told him that at that time. I am happy for you that you made a decision that is right for you regarding not having biological children. These decisions are not easy to make. Take care and see you around this forum!

[Leab]

For the last three years my husband and I have been going through PGD. We had three failed attempts and was really starting to give up - especially as on paper there was no reason why it didn’t work. And on our fourth attempt we finally got pregnant. I’m currently 9 weeks pregnant! We had to put a carrier back as we had used all of our unaffected embryos so it was a difficult decision but I just keep thinking maybe we were meant to have a carrier and hopefully in 30 years time there will be other options available so she doesn’t have to go through what we did. I know it’s easier said than done but don’t give up!

[Shelcee]

Sorry to hear that you are going through this, it is tough. We did IVF + PGD to have our children as I am a carrier, my mother, my 2 aunts also and I lost my brother to ALD. We did 9 cycles of IVF in the end to get our beautiful daughters. It is really tough going, but don't give up hope too soon, we had to take a break after our first few attempts as it was very emotional and stressful and that apparently doesn't help the whole process, the egg quality isn't as good. After our break I started doing accupuncture for IVF as I also had a very stressful job. This was our best egg collection yet! and better still as during the whole process I discovered I only have one ovary. Please hang in there, be kind to yourselves, as you really are just trying for the very best outcome for you and your family.

[AnxiousIVFer in reply to Shelcee]

Thank you so so much for sharing your story. I am really grateful I found someone else like me but I am sorry you had to go through what I'm going through as I know how tough it must have been. You are so brave to do 9 cycles of IVF but it looks like paid off! I am such an emotional wreck after this cycle I don't know how many more times I can endure this. You said you took a break. How long of a break did you take? When did you start doing the acupuncture? Our clinic is slow so it's been taking a while between each cycle anyway. I have definitely been very emotional in both my last 2 cycles so that probably did not help.

Thank you for your support and kind words. This has been helpful seeing all your responses here.

[Shelcee in reply to AnxiousIVFer]

Hi there, its tough going through what we have to do in order to have a family. It is a truly wild ride and your hormones are up and down as you put your body through so much. I actually was very depressed whilst we were doing IVF and was an emotional wreck as well but now it is a distant memory. We always said that when the pain of trying exceeds the pain of not trying then its time to stop. We had a 12 month break after our first failed round and then when i started injecting again I started the acupuncture, it was weird but beneficial. I think the acupuncture helps your mental state in that it relaxes your nervous system, which we AMN carriers need, also try some yoga and meditation. Good luck with it all, be kind to yourself and keep us posted.

[Aquinney]

I have recently found out that I am a carrier for the gene, as my dad has it. I would like to say that there are tons of research for children born with this disease. Just talking with my father and boyfriend we have discussed the many outcomes of childbearing. My faith in God is the only reason I would like to try natural birth. There are many available things such as stem cell transplants, gene therapy, and even some research with gene splicing. I would say that since you have a 50% chance of passing this on, its almost worth the risk knowing that there are options available to children with ALD/AMN including newborn scanning. I'm not saying that natural pregnancy is the ideal thing or that you are wrong for trying IVF/PGD. In fact, it's a great option for some. Just my personal beliefs on a lot of this. Hope it was some help.

[Aaron98 in reply to Aquinney]

I take it that you are Equinney's 17-year-old daughter, correct? If so, I admire you for being able to handle all of this at such a young age. My own sister found out that she was a carrier at the age of 21, and her boyfriend promptly dumped her after learning about the genetic risk. Fortunately, she has been married to a wonderful man for almost seven years. They seem to have a similar mentality as you do, in that they trust that God's will shall be done in their lives, and trust in Him concerning their children. They have had two sons, and amazingly, neither one has the gene defect that causes ALD/AMN. She is now pregnant with their third son, due in May. I don't know if I would personally take the risk that they are taking, but this is a very personal decision, and I know that they fully understand the risks of having a son with cerebral ALD. If their third son does turn out to have the gene defect, I will of course support them in any way I can.

I have a 17-month-old daughter who is a carrier, as well, so I have a very dear place in my heart for ALD/AMN carriers. Welcome to our forum, and please let us know if we can help you in any way!