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Hypophosphatasia/ Rathbun's syndrome

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  1. #1
    Keile
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    Hypophosphatasia/ Rathbun's syndrome

    Hello, I'm new to this forum, I happened to be searching through google of how others handle the 2 week wait.
    However the reason why I'm posting, is more about the genetic issue that me and my husband faced last year.
    Last year, we lost our son Neal due to a fatal and perinatal form of the disease mentioned in this subject.
    I'd like to know, if anyone else has had a baby with this syndrome? It seems to be a very rare disease
    Right now, I'm back on fertility treatment, and trying to conceive again. The genetics counselor has told us that there is a 1 in 4 chance of the disease re-occurring. I feel like I'm rolling the bones, as I'm doing IUI rather than IVF, and prenatal genetic diagnosis is difficult due to the fact that the lab who will search for this disease is out of country (NYC, USA) I live in Toronto, Canada.


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  3. #2
    monarchbutterfly
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    oh sweetie, i am so sorry for the loss of your precious son you may want to venture over under the parenting section and there is a baord there called loss of an infant/child and the women there are a true godsend when it comes to getting through the difficult times.
    as for the disease, i have never heard of it but now i will be looking into it. are you planning on doing a cvs since you are doing an iui to see if any future conceptions are affected as well?? if i can be of any help please let me know.
    becky
    me and my three:
    and my three very sweet angels, who will never be forgotten: (18+wks) (5wks) (8wks)


  4. #3
    murph851
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    children mentioned

    Keile,

    Hi, I wanted to say how sorry I am about the loss of your son, Neal. I am terribly sorry. I know how much your pain is compounded finding out that you carry the recessive gene that caused the disease and now have a 1 in 4 chance of reoccurance. We lost our daughter, Bridget, 3 and a half years ago to ARPKD, an infantile/perinatal and fatal kidney disease. A disease that we didn't know we carried until her death as a full term newborn.

    I am sorry that I don't have any info on the syndrome that you carry the recessive gene for. I just wanted to tell you that I am sorry, and I know how that feels, not only to lose your baby, but, then to find out you have a one in four chance of reoccurance. I was like "okay, just shoot me now!" Can this get any worse?" I know what it's like to be so afraid to "roll the dice again".

    I want to tell you that I do have 3 healthy children, unaffected by the disease. They may be carriers, but, ethically, the lab will not allow us to test them for that, as they are still minors. 25% seems like such a gamble, but, when you look at the 75% chance of having an unaffected child, that seems really good too. I know it's really difficult, really really difficult. We struggled with it also.

    I am so sorry you are living through this. I just wanted to tell you, you are not alone, there are other families dealing with recessive gene issues. Please take care. If you ever want to email me, I'm at geig5326@comcast.net

    Hugs,

    Marian


  5. #4
    Keile
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    children mentioned

    mod-beckyc : thank you so much for your response. It's comforting to some degree to know, I'm not alone in this pain. There are times I go through periods of 'this was just the bad luck of the draw' the other times I'm just really terrified.
    Since I have vaginisimus, CVS would be extremely difficult and painful for me. The actual IUI procedure can be just as bad; often times my husband has to hold me down because I'll involuntarily tense.
    It would discover the lack of alkaline phosphatase, but amniocentesis may be the best possible route.
    Thanks for the information regarding the forum, I'll be sure to check there too.
    My email is kaeli@deltalabs.ca
    Marian: I'm so sorry about the loss of your darling daughter Bridget. Did you ever go through feelings that you felt defective, or less than perfect? I'm struggling through these issues now.
    Neal was premature, he was 24 weeks gestation and stillborn. He was also our first and we have no other children.
    I'm just wondering how did you handle it? Currently I battle anger, depression, and on anti-depressants (Celexa) because afterwards I developed post-partum depression.
    I checked with Motherisk run by Sick Kids here in Toronto, and they've indicated Celexa is not a threat, although it's based on a benefit/risk. In my case, the benefit outweighs the risks.


  6. #5
    TriciaJ
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    I just wanted to say how sorry I am for the loss of your son, Neal.

    Hugs,
    Tricia


  7. #6
    SueZ
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    Hi, My son passed away from the same thing Marian's daughter did. We too carry a recessive gene, but it's for a kidney disease. I know how scared you are. I'm so very sorry for the loss of your son. Trying again is so scary when you have the 1 in 4 odds. As Marian said, you can look at it like you have a 75% chance of it not happening again, but I know 25% feels like such a huge number right now.

    I did go on to have two subsuquent children, but we did not do it the route we used to have my son that passed away. We chose the route of doing donor insemination, as for me, the number just seemed huge. But I know I had to get to a place where I was comfortable to do this and my husband was okay with it. For us, it was our only option, but I know not everyone feels like we did.

    If you would like to know anymore, you can always write.
    Suzanne
    ^!^ Zachary, 5/3/98-5/4/98, born 36 weeks, genetic kidney disease
    m/c
    Nicholas Zachary, December '99
    Jesse Daniel, 9/4/03


  8. #7
    Keile
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    TriciaJ : thank you.

    SueZ: Yes, I would like to know more, about the kidney disease and the donor insemination. Our RE has brought it up before, but we decided to take our chances, although honestly at this point donor insemination sounds like a good idea to avoid running into the mutation.
    I know when they did the genetic scan on myself, my husband and our son, they were able to find the mutation my husband had on our son's genes. With me, they found genetic markers but didn't have the technology to find the actual mutation. Very strange.


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    monarchbutterfly
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    keile,
    i just wanted to let you know that cvs may be an option for you yet. if the embryo implants in the front of the uterus and your placenta is toward the front they would not go in vaginally but rather go thru the abdominal wall much like an amnio. so it may still yet be an option for you.


  10. #9
    Keile
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    Hmm, I hope they do that, it'd be way easier. I was told though I have a tilted uterus.. who knows though, it could work if the placenta is placed in front.
    Kaeli, 38, DH, 45
    mommy to:
    Neal Alexander, b/d Jan 26 2004, (Rathbun's syndrome)
    Kyle Michael, b/d Apr 5 2006 (placental insufficiency)
    I wish I had an angel for one moment of love..


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