Hello!  I’m 34 weeks pregnant with a little girl who was diagnosed with WHS at 24 weeks. We want to thank all of you who have opened your lives to us via your blogs.  They were such an amazing help during the first few weeks after the diagnosis.  Like you have all mentioned several times, the information given to us by our medical professionals painted a very bleak future.  Your blogs and stories helped give us light.  We have noticed that very few of you, if any, had the diagnosis of WHS before your little ones were born.  We found her diagnosis by chance; check out our blog if you care to hear the story of how it came to be.  We were wondering if there was anything you would have done to prepare for your little one’s arrival had you known.  We are currently meeting with several doctors as well as a genetic counselor.  We have toured the NICU and met with the neonatologist that will be taking care of her once she is here.  However we are wondering if anyone has any advice.  We are happy we know now before she gets here, but the waiting is hard.  We feel like we are focused on the syndrome and not our baby girl since she isn’t here yet to focus on.  We read the blogs and try to prepare for all of the medical issues she could have but there are such variations it’s hard to prepare for everything.  Any suggestions, thoughts or comments would greatly be appreciated!  Thanks again for opening your families to us.  We truly appreciate it!

Thanks,

Hilary

http://iwontweargrey.blogspot.com

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18 Responses to Any advice for a baby on the way with WHS?

  1. Heather says:

    Hilary,
    I’m glad you’ve found this site and other blogs to help you get ready for the arrival of your little girl. I think you’re right when you say it seems few of us had a diagnosis before birth. In our case, we didn’t know there was anything unusual going on until after our son was born, and we received his diagnosis at three weeks of age.

    Had I known before he was born… I’m not really sure what we would have done differently. I think there may have been more of focus on the syndrome rather than the baby, as you said. As it was, we really celebrated his arrival, and my advice would be to do the same. To celebrate. Your daughter will be a precious addition to your family, regardless of her health or developmental delays, and she deserves all the picture-taking, phone-call-making, celebrating that comes with a birth.

    Secondly, I would get her enrolled in your state’s Early Intervention program as soon as possible. Early therapy can make quite a difference in her physical development.

    Good luck to you and keep us updated,
    Heather
    (mom to Frank, 9 months)

  2. Anna says:

    Hi Hilary,

    We didn’t get our diagnosis until Ryley was 2 years old! But I definitely wouldn’t have done anything too different I don’t think, except link in with other families who have kids with WHS, just like you have done.

    The doctors will paint a bleak picture. But our kids are amazing. My best piece of advice is to just try and not focus too much on WHS. Although, I know it is hard not too.

    Keeping in touch with other families with kids with WHS is the best way to be inspired, informed and to find friends for life.

    Best of luck to you and I look forward to ‘meeting’ your daughter.
    Anna (Australia-Mum to Ryley, 8 and 1/2 years)

  3. BreB says:

    Hi Hilary, our daughter Eve was diagnosed at 13 days old, Eve suffered periodic breathing and dusky spells for the first 3 weeks and was slowly weaned off oxygen, we took her home when she was one month old. I remember some advise we were given from one of the doctors very early on, simply ‘Eve is Eve’. The first few months were quite scary, not because she was misbehaving, more due to the info we were given in relation to her life expectancy. We try to remember there will be times there is no explaination for things and it’s no ones fault, Eve is Eve. She will be what she will be and we will love her with all our heart.

    I also agree with Anna, try not to focus on what the medical literature says, focus more on the personal stories, all of the children with WHS are so different and each offer hope. All the best, I hope all goes well for you and your new edition.
    Breanna – Mum to Evie, 6 months

  4. Mihaela says:

    Hilary,

    Those first week of the diagnosis are real tough.

    Our daughter Denise was diagnosed when she was 9.5 months old. The only thing I would have done differently had I known the diagnosis early enough is that I wouldn’t have stopped breastfeeding her. This may not be your choice of feeding your little one and that’s fine. I was determined to breastfeed her, but when she started vomitting and refusing to eat, at some point I thought it was because my milk was not good for her in a way. Now I know this was not true. She was dealing with reflux that’s pretty common in WHS children. But I know this now. I stopped giving her breastmilk when she was 8 months old and now I’m sorry I quit so early. She was gaining really well when she was breastfed – 1-1.5 pounds per month. Other than that I cannot think of anything else I would have done differently.

    Lots of love,
    Mihaela, mom to Denise

  5. Liz says:

    I was wondering what the deletion sizes are of the children on this blog. I am expecting a baby with an 8.7 MB deletion, coupled with a translocation of 6.7 MB from 8p onto 4p. My baby has a bilateral cleft lip and palate, and I haven’t seen any of the high functional kids on any websites with this severe of a defect. Could any of the parents out there help me out and tell me how severe your baby’s cleft is and how they are functioning so I can better understand how W-H will affect my baby? Please respond soon.

  6. KevinO says:

    Liz- Kendall doesn’t have a cleft palate. Her deletion is 4p 14-15. I don’t recall the exact deletion, but she still has what is considered the critical region.

    I’m sorry to hear of your situation. If we can be of more help to you, please reach out to any of us here…

  7. Anna says:

    Hi Liz,

    I will try and chase up Ryley’s exact karotyping this week, I did try and get a copy a while ago and forgot to follow it up. Ryley never had a cleft palate or lip, but he has a very high palate. He also has extra material from chromosome 8p on his 4p. That is because I have a balanced translocation, so he effectively inherited it from me. From my memory, Ryley’s deletion, although described as micro, was actually relatively big.

    As Kevin has said, please reach out to us. I can only imagine how scary this is for you. Cleft Palate/Lip surgery these days is so common and straight forward, so try not to worry too much about that. I am sure there are other parents out there too who can reassure you.

    Where in the world are you? I wonder if we can connect you to some other families close by. I am in Australia, though not sure if that helps!

    Thinking of you

    Anna

  8. Martha says:

    Liz,
    I have to tell you that my thinking was much the same as yours when I was first searching for info when our son, Zane, was born nine years ago. I thought, if I found a child with the same precise micro-deletion that Zane had they would have the same anomolies and I could better predict what his challenges would be. I learned that It doesnt work that way. You would think the larger the deletion then the more anomolies, right? Nope. Its a crapshoot honestly. Jut like with our “typical” kids.
    Many children have great success with cleft palate repair. You will likely be refered to a surgeon and then an oral motor therapist who will guide you through this. Try not to get hung up on knowing how everthing is going to be. Its impossible to predict but you will get through. We will help you. Just ask.
    ALL of our kids are ADORABLE, angelic beings of sweetness. Seriously. You are going to have a precious angel. Try not to get too anxious and worry. Enjoy the end of your pregnancy thinking of all the sweet little outfits youll be putting on your new little girl. I know it is hard. I wish I had more exact answers for you. I pray for your peace, Martha

  9. Laurie says:

    Liz–Kaylee’s deletion is almost exactly the same as your child’s; she has an 8.95 Mb deletion in 16.1-16.3, and a 6.84Mb duplication of the 8 onto her 4th chromosome. I wish I could say that she is hitting all of her milestones– but she is not. But it is not to be expected. At almost 8 months of age, she still is working on gaining neck strength and head control. She gets stronger every day, but I will admit that it is very hard for me to watch children at this stage without WHS– I do not have the social interaction with my daughter that I would otherwise….mainly due to her inability to keep her head still (I am told it interferes with her ability to focus on people and things). She has a high-arched palate, but it is not cleft. I do know of a parent who has a son with a very similar deletion and translocation who was born with a cleft palate (although I cannot speak as to the severity of it). He is 19 months old and the happiest baby! His name is Tanner, and you can write to his mother, Jessica, through here. I know that she would love to talk to you about the amazing milestones Tanner has reached– especially in these past few months!

    Hilary– I did not know about Kaylee’s syndrome before she was born, but the doctors knew there was something wrong– I was diagnosed with IUGR. I just recently learned that there were chromosome tests ordered that were not carried out. I do have an 11 year old daughter with Autism and significant cognitive and physical issues, so I did want all tests done so that I could be prepared with information. Knowing that someone in a medical office made such a huge error makes me very upset. I went in to the hospital after repeated reassurances that my daughter was “fine but small,” and I had my tubes tied as a result. Had I known, this is one major decision I would not have made…that I can say. I try to remind myself every day that Kaylee is Kaylee and not hold expectations for her– rather, just celebrate what she does do and love her unconditionally. The loving part is easy– she is my snuggler, and everyone who meets her just says that there is something special about her spirit. I think this is true of all WHS children; the ones I know personally inspire me and warm my heart like no other “neurotypical” child can.

    I wish you both lots of love, luck, and joy in this journey. It is not always easy, but with the support you receive from those of us who are walking next to you on this path, it definitely gets easier– just take it one day at a time. xo

  10. cordillh says:

    Our Riley has a deletion of 8.9 Mb, it is from 16.1 to 16.3. She does not have a cleft lip or palate. She is doing great. She was sitting independently at 10 months, standing while holding onto something at 11 months, playing with toys actively at 6 months. She is now 18 months and can walk with her walker independently, she is crawling, and very social. Feeding has been our biggest issue, she has a g-tube as a result. She has had 1 seizure and it was after the DTaP vaccine.

    Hope this helps. We are thinking about you and your baby and excited for her birth!!

  11. katherine bolan says:

    hi hilary my daugher is 18 months at 17.5pounds she is amazing she brings joy to my life eveyday stay positive dont always listen to what you hear or read our kids will show you everyday what they can do god bless

  12. Corrinne says:

    Hi Liz,
    I have a couple of medical papers about the deletion size and the effect this could have on the child. Would you like me to email this to you?
    All I can say about my little girl is that she was born with a club foot, after serial casting and an operation, this has been fixed. The physical effects of the syndrome are probably the easiest to overcome (medically speaking), the cognitive delays and neurological issues are what require a lot of work. I would be happy to talk to or to send you the papers that I have. Ana’s deletion is nearly 11Mb.
    I know this is a tough time for you, please don’t hesitate to contact me should you need to.
    Best wishes
    Corrinne

  13. Bettina says:

    Evvie’s deletion is 4.9–6.3, no translocation. I remember how hungry I was for specific information (and how disappointed not to find very much) when she was diagnosed at 8 months. We live in a remote area which is probably why it took so long for us to get the diagnosis. I have realized over the past nine years that only Evvie is going to show us what Evvie is going to be able to do. Each child with WHS is so unique and has his/her own unique constellation of strengths and difficulties. Evvie has had several surgeries and has on going issues but is also able to walk. When she was diagnosed, I told my mother and I was very upset. My mother said to me, “Well, Evvie will be happy.” I looked at her and thought, “you are completely missing the point, this is about my pain!” But in fact, my mother was right. Evvie’s life is about her, it hasn’t been about my pain. And Evvie is happy. She, like all our WHS kids, has the preciousness that only comes with what is very rare. Now I am able to see so clearly how perfectly Evvie is exactly who she is meant to be. I am sorry for the pain I know you experience and will experience; but as you can see from reading parent comments there is so much joy to every child as well. All you have to do is look around you to see that having a healthy child does not make people happy. Happiness is a task for everyone. Best wishes to you and your family, Bettina (mother to Evalena, age 9)

  14. Hilary says:

    Thank you all for your comments. We also initially tried to find some information on a child with the same size of deletion (9.92) so we could know more. However, our genetic counselor informed us that it doesn’t usually work like that. We appreciate all of your comments and hope to stay in touch and would appreciate any advice you have. I was excited to hear that breastfeeding may be an option. The doctors we are working with have informed us they will give her a nasal feeding tube right away to avoid any weight loss, however they will work with her on suction in hopes of her breastfeeding or bottle feeding breast milk.

    Thanks! Hilary (35 weeks pregnant with Magnolia)

    http://iwontweargrey.blogspot.com

  15. crivera75 says:

    Hi Hillary,
    One piece of advice that I can give you that has not been mentioned is to take extra precaution with germs. I think a lot of our WHS kids get sick very easily and have a hard time with any type of infection. Amelia was diagnosed on day two and caught a nasty virus in the NICU on day five. I often joke about “taking her out of bubble” to go places but I have learned not to expose to anyone or anything that is not necessary! As she has gained more weight, she is now 30 months and weighs nineteen pounds, she gets sick a little less and does not have to hospitalized as much as she used to be for infections. Hope this helps!
    Chrissy Rivera- mom to Amelia

  16. mihaela says:

    One more thing came to my mind – vaccines. This is only an opinion and not an advise. Denise used to get pretty sick after vaccines – fevers, colds, runny nose. This would have her lose her appetite and lose whatever ounces she had previously gained. If I could do this all over again – I would have spread the shots over longer period of time. We went with the regular schedule and gave her EVERY SINGLE one until recently. She’s basically pretty up to date with shots but I feel we could have done better. Just something to think about.

  17. LeeAnn says:

    Hi Hilary,
    My son was born with a cleft palate. I just want to reassure you that there are so many advances in medical science related to repairing cleft lips and palates and related to helping your baby cope with them. My son didn’t get his repaired til he was 1 year old and until then we had a difficult time with feeding him and there were ups and downs through the year related to the cleft, but the repair went fantastic and helped him so much. He had a special bottle called the Haberman through the first year, it was a great invention for Brodie’s case. We can stay in touch and I will answer any questions you have at any point. Congratulations on your baby girl, she is so blessed to have parents who are so dedicated to being prepared in every way to help her and who love her so much already!
    LeeAnn

  18. Kristen says:

    I think we are one of the “newest” members of the WHS club. Our son, Alexander, is now 4 months old. We were told it was probable at 2 days after his birth and given the final word at 10 days. We were told terrible stories and decisions were made at the NICU that I wish I would not have made. If I would have known about his condition prior to his birth – I would have first reached out to others. Most of the people on here we know and many of them we have met in person – so you are already on track! It was after listening to their stories and seeing other children that my husband and I began to realize how wrong the doctors were. So – if you have any chance to meet other families – do it. The real decision we made that I wish I would have done differently was to give Alex a g-tube. When his diagnosis was made, the doctors told us just to do it so he could go home. He now eats TOTALLY by mouth …. but – we don’t want to take it out in case he ever does need it. i just would have given him the NG tube to get nutrition and given him a chance to learn to eat. Now we have care of a g-tube we don’t use. If we would have known this was not common practice, we would have taken an ng tube and only put the g-tube in if it was necessary later on. I also decided to stop pumping when we were in the hospital because he couldn’t suck and I was in such a great depression. I became engourged and decided to pump until we were sure of the diagnosis. Here we are – 4 months later and i’m still pumping and very happy that I am doing this for him. There are so few things that i can give him …. just out of love for him. I’m truly glad that I pumped. Right now, he still eats by bottle because i strictly monitor how much he eats – but I LOVE the idea that I could nurse him if I decided to tomorrow. It makes a warm feeling in my heart. I would also tell you not to put too much stock in the deletion size. There are so many other variations. Alex had his first seizure at 3 months and has 3 heart defects, g-tube, tethered chord, cateract in his one eye, hypospadia…etc. and I just don’t think about it. A few more words of advice – if you need some help dealing with all of this- don’t be afraid to get it. I’m still taking some things for anxiety and I’m not ashamed. I will stop when I am ready – but for now it helps keep my worries in check. Also – our motto is: We WILL decide our treatment of Alexander based on his needs not on his diagnosis. When we meet with a doctor – one of the first questions we ask is: if you were meeting with a child who didn’t have 4P- … what would your advice be? that is usually the advice we take. (Our NICU doctors told all the other specialists not to treat based on his condition.) We do not believe this is true. We had Alexander’s cateract removed and a contact lens placed in and his tracking and grasping of objects has improved so much! Good luck. You guys are going to do great.

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