Special Needs

finally got our phone call... (super duper long)

We'd been waiting 6 long weeks for the final results of our amniocentesis. I called Monday to see how it was going and if they new when we could expect results. Our genetic counselor called the lab and they said they were hoping for Friday. I was so happy to have an accurate estimate from them but Friday is really the worst day. I'm off work now due to several things putting me at high-risk for preterm labor so I was glad that I could be at home when I got the call. My husband had to work 10am-8pm that day though and doesn't have the type of job where he can take a break to talk for a minute. Any other day he could have come home, if necessary, but he was firing an employee that day and wouldn't be able to. We talked about what he wanted. We both wanted him to know before I told my parents (who live across town). Originally we thought that I would just have to wait until he got home after 8 to tell him. He called me as soon as he got to work and had decided that he would call around 5 and he would just have to handle the news at work for the rest of his shift. I asked him over and over if he was sure. My trooper of a husband was sure.

I got the call at 12:45. The genetic counselor said that it looks like what they expected. Our little baby girl does have congenital myotonic dystrophy. We were waiting for the number of repeats of the mutated gene to give us an idea of how bad it was. The congenital form or myotonic dystrophy starts at 1000 repeats. She has a range (depending on the cells being tested I guess) of 1000-2000 with most falling into the 1500s. The thing about myotonic dystrophy is that it is such a variable disease that we can't really predict how affected she will be. I visit the Myotonic Dystrophy Community website and look at other people's stories and their repeat numbers and try to get an idea of what to expect. Kid's born within her range seem to spend anywhere from 2-7 months in the hospital after they are born. They seem to always require ventilators and feeding tubes for the time they spend in the hospital (if not longer). They are floppy babies. They are delayed in developmental milestones and are usually mentally delayed as well. And these are the stories of children who have survived. I read somewhere, once upon a time, that 40-50% of children born with this don't survive the first month of life. The rest I can deal with, but the thought of possibly losing her or having to make a decision as to whether to keep her on life support and for how long? I hope it doesn't come to that, because I don't know what I'll do.

So, I could cry at any second of the day now if I allow myself to think about it. A person can really torture themselves under these circumstances. All the things that run through your mind. I probably won't be able to hold her when she's born. Maybe not even see her until she's stabilized. I don't want to go home at night without my baby. Hell, even the fact that she will probably never get to wear her coming home outfit (which I had picked out before I even knew she was a girl) because she'll be too big for it by the time she comes home. Obviously that last one is silly, but it's just another one of those crazy things that can make you burst into tears.

I do have moments though, where I think "We'll be fine." As depressed as this post sounds, I am not devastated. Her repeats could have been a lot higher. We still don't really know what she'll be like. The only thing we know for sure is that she has club feet and is one hell of a kicker.

My mom told me what my dad said when all these complications came up that was really sweet. He said "This baby is just going to need a lot of extra love, and there's no better person to give it to her than lboers." I am going to try to always keep this in the back of my head when times get tough.

Anyway, I've said it before but I did not want to officially belong to this group, but I can't imagine a stronger, braver group of ladies to be associated with. Thanks for all your support thus far and thank you in advance for all the support you will give me in the future.


Re: finally got our phone call... (super duper long)

  • MAtoNCMAtoNC member
    Your daughter is blessed to have you as a mother and to have such a supportive family.
    Married 4/12/08 DS born 11/17/2009 via c-section at 39 weeks. 11/12/2011 BFP #2!! m/c 7w5d. 2/28/2012 BFP #3 Beta #1-12dpo = 18; Beta #2-16dpo = 185; Beta #3-18dpo = 505. EDD 11/10/2012. Ectopic discovered at 5w4d. D&C followed by methotrexate.
  • prayers for you and your little girl.  sounds like your dad was right about this baby having just the right mommy. 
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  • {Hugs}  Wishing strength and the absolute best case. 
  • I'm so sorry you have to go through this.  Just know that as a mom you WILL have the strength.  I had to leave DS in the NICU.  The most important part of the special needs is the special. I know having to leave DS every night made every minute that much more precious.

    And it's not stupid the whole fear of the home coming outfit, it's giving up that ideal image.

    Everyone is here for you if you need it.  And congratulations for having such a special baby who will be one very lucky little girl.

  • You and your precious little girl are in my prayers!!!  You are such a great mom already - the initial shock is sooooo hard!!!  Your thoughts that are running through your mind are just like mine were with my little boy - i was sooo mad about that coming home outfit too - i had bought a newborn outfit and he wore it when he was almost a year old  :)  

    Our situation is a little different (our guy has PWS) it was a total shock at birth - but I know how hard it is getting that initial diagnosis.  Our little one stayed in the hospital almost a month and was floppy too - he's still floppy - but so darn cute and we appreciate every little thing in life so much more now.  I'm sure your little girl will be super precious!!! 

    I am sorry that you have to go through all this!!!

    ps. were you the one with the question about kicks and low tone the other day??  because I guess i am one of the few too where i didn't feel much of anything kickwise - and ended up with a low tone baby. 

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  • {Hugs}. I so remember that phone call as well and it was so hard to process. My husband was traveling for work and I had to call him and tell him the news. He came on the next plane home to be with me. 

    We spent 3 1/2 months in the hospital and only expected about a month stay due to the heart defect. It was a tough journey, but as PP said, it makes having him home and every day with him just that much better. We could have stayed in the room with him, as there was an area for parents, but we chose to go to the Ronald McDonald House across the street to have some time alone and to get a good night sleep. We didn't leave until late each night when our little guy was all settled and had our phones on the night stand in case there was an emergency.  

    There are many things I didn't get to do, like hold my newborn after birth, but it made it easier knowing ahead of time and not expecting to be able to hold him. Right now you will need time to process, but I am telling you that you are in a better place knowing before the birth about the diagnosis because you have time to prepare. You will need to grieve the loss of the "ideal" birth and healthy baby. It is tough, but you will get through it. Give yourselves time to talk, vent, scream, cry...whatever you need. 

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  • Big hugs!
    Making the decision to have a child is momentous. It is to decide forever to have your heart go walking around outside your body. ~ Elizabeth Stone
    "Don't marry a man unless you would be PROUD to have a son exactly like him." ~ Unknown
  • Sounds like your dad was right!!! It's a tough journey, but it sounds like you are the right one for the job. I wish you didn't have to think about all these things. We are here for you.
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  • What a wonderful momma you already are...your dad was certainly right!  I think the worst part is the waiting for the baby to arrive, wondering what she will be like, and what needs she's going to have.  I promise you though, the second you meet her (regardless of whether you can hold her right away, or what doctors are checking her over), your stress and fears shift.  Even if she needs support and intervention in the hospital, there is still a comfort in being able to SEE her face and hold her little hand, without having to have an ultrasound to do so.  Being a NICU mommy is definitely hard, but you will learn so much about your little girl & how to take care of her special needs.  It'll make you incredibly strong too!  And the day when you can finally put her in a special outfit, without any monitors attached, will be a day you will never ever forget.  Good luck to you and your new family...can't wait to see pictures when she arrives!
  • Big hugs to you and DH. Two things that really helped me when we got our dx about 5 days after Nate was born are these:

    After I googled and was just staring off into space in the NICU rocker as they told us our baby was missing a part of his brain, a NICU nurse said that I could go on the internet and try and find all the stories about other children with his condition but really the ONLY person able to tell us how he will be in the future is Nate. He will tell us his own story chapter by chapter. So far, the story is turning out better than I imagined.

    Nate picked us. He picked us to be his parents for a reason. He knew we could handle it and that we would be totally bored with a neurotypical child. He was right.

    Hugs again!

    WAY 2 Cool 4 School

  • I wish you the very best as you go through this journey. ((hugs))
  • I'm glad you got your results. At least that leg of your journey is behind you. You are a great mother already and it's perfectly ok to worry about "silly" things. I worry about them all the time too.


  • *hugs*

    Sending you lots of strength and support. There are some great moms on here, so feel free to vent whenever you need to. We've all been there. 

    Nora Judith 7/2/06 Miles Chauncey 4/20/09 born with Trisomy 21 - Down syndrome
  • Whatever the going home outfit is, go buy it in the next few sizes :)  That way you will be ready no matter when she comes home!


  • Your dad's first reaction seems to be right on the money. Sending you strength, and prayers for you, your DH, and your precious baby girl.
    DS1 9/7/05 DS2 10/20/07 DS3 1/20/09 DD 11/9/14
  • You're already demonstrating that you're exactly the kind of mom this little girl needs in her life... your dad is absolutely right.

    Wishing the best possible outcome for you and your baby girl!

    A sister is a little bit of childhood that can never be lost. ~Marion C. Garrett
    image7_0002 A ~ 2.7.06 S ~ 9.2.07
  • I've been thinking of your family and wondering if you'd received the news yet. I'll be praying for your precious little girl and you to stay strong through this. 


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  • You will be a great mom and you will have a beautiful family. We are here for all your venting needs.
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  • erinmserinms member
    It sounds like this little girl is being born into a really loving, wonderful family.  You and your husband sound like great parents already.
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