Thanks for your comments everybody, i’d also like to correct we was not told directly that Ruby has the ” most severe ” case of this syndrome by Doctors, but this is certainly the impression Emma and i have been given. Out of all the Doctors and Midwives we have spoken to only two have personally seen this before. We have the injection to stop the heart booked in at St. Thomas’ in London on Wednesday, and the labour to follow on Friday. After reading your comments have really hit home and made me think, we are both feeling lost but i cant imagine what Emma is going through as she is the one who is carrying Ruby and feels all the movements and kicks and turns. We found out yesterday she is also breach position. I will show Emma all of your comments when she gets home tonight and keep reading all of your helpful comments. Thanks again, Rick.
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Hello, I’m Emma Rick’s partner. I’ve read all your comments, which has given me some hope. At the moment I feel completly lost and numb the only reason why I feel like i’m ‘coping’ is because of our son Mikey because I feel I have to be strong for him. We have been led to believe that Ruby will not walk, talk, be able to sit up, move on her own, communicate in any form, they have told us that there is a high chance she will have regular seizures, the doctor also told us that she will be mentally retarded. On my chromosome analysis report from Guy’s hospital it states, ABNORMAL RESULT 46,XX,del(4)_ish del(4)(WHS-,4cen+) Preliminary result: Abnormal female karyotype with a deletion of material from the distal region of the shorrt arm of chromosome 4. In situ hybridization studies have confirmed that this deletion includes the Wolf-Hirshhorn locus (WHS) within band p16.3. This is therefore likely to be terminal deletion but the possibility of a more complex rearrangement has not been excluded. This deletion is likely to be the cause of the clinical features seen in this pregnancy. This is the result of the G-banded chromosome analysis and supersedes the rapid PCR analysis report issued 12/03/2010.
ABNORMAL RESULT, ish del(4)(WHS-,4cen+), G-banded chromosome analysis detected an abnormal female karyotype, with deletion of material from the distal region of the short arm of chromosome 4. In situ hybridization was therefore carried out with probs specific for the Wolf- Hirshhorn locus (WHS)within band p 16.3 in the short arm of chromosome 4 and the centromere region (4cen)of chromosome 4. Prob WHS did not hybridize to the abnormal chromosome 4, but did hybridize to the normal homologue. The centromere prob hybridized to both homologues of chromosome 4. No hybridization was seen with either prob elsewhere in the genone. This result indicates that the abnormal chromosome 4 is deleted for at least the Wolf-Hirshhorn locus in the short arm of chromosome 4 and is consistent with the results of the G-banded chromosome analysis. I hope that helps you to understand our situation a bit more and would like to here from all of you with your advice and comments. You can also contact us on our e-mail addresses: rickyballard83@yahoo.com or emsyb85@yahoo.co.uk. I would really appreciate your reply.
Hi Ricky…I have just read ypur post,and i understand how lost you and Emma are both feeling…Myself and my partner Will have three children and our youngest Talia who is 2yrs 3 months was diagnosed with Whs last April,and we still really feel overwhelmed and confused most of the time…Its hard to determind what our children will and will not do…We do our best for Talia,we encourage her in all we have to do with her and hope that she will progress the best she can..She has a hole in her heart which is awaiting open heart surgery at GOS some time this year.Shes small for age and gains weight but very slowly,she is behind in mental and physical development but she determined and very strong willed and is chilled out and an absolute joy to us and all that know her…..we wish You, Emma and Mickey great love.Samm
Hi Ricky,
My daughter, Kailyn (“Kaylee”) is only a week shy of 3 months old, and I will be the first to confess that her diagnosis at birth was an utter shock. I had an amnio before her birth, and all of our results came back normal. Hence, I was not prepared to hear that she suffered from this disorder as I was actually told that she was chromosomally “normal.” I cannot imagine how difficult it must be for both you and your wife right now; my husband and I go back and forth as to whether or not we would have liked to have had the diagnosis prior to her birth. Here is what I can tell you: so far, my daughter is developing in her physical skills like any other “normally” developing child. She has good strength, movement, and because she did not have a cleft palate, she has no major issues with feeding. However, she does have a challenge in gaining weight– and that is typical for children with these children. She is the sweetest baby, and although it is still hard for me at times to forget the dreams I had prior to her birth, I am able to see the gifts she will present to my husband and I. We celebrate everything she does– no matter how small– and really, it makes parenting as rewarding for us as it is when our 2 year old son does something new for the first time. It is absolutely true– no 2 children are exactly the same with this syndrome, so all you can do is hope for the best and expect that she will surpass the expert’s expectations– for she most certainly will do far better than anything your doctors/research tells you. That I can promise you is a fact! Sending you and Emma big hugs. Reach out anytime. Laurie Sedlazek-Hunter
hi my daughter had a delection of 16.4 and we were told she wouldnt be able to do a lot of things, but she carryed on to prove them wrong. she did have fits but only with a high temp. my daughter went to sleep with the angels in january. due to lack of information on the doctors behalf. my aim now is to rasie aweaness for whs so people are not so blind and rather than telling parents things that they are not 100% sure of, maybe in time more research will be done.
my adivice to you would be love each second with your child and never give up, the stronger you are for your child the more she will come on heaps and bounds. read some of the blogs on here and you will see for your self that not everything the doctors tell you is true.
i hope everything works out for you and you are blessed to have been chosen for such a special little girl. sending you all big hugs. enjoy every second with her i only wish i had longer with my princess. x
Today, Ricky informed me about the end of the story and asked that I would communicate it with everyone.
Unfortunately, they chose to stop the heart of Ruby and delivered her a few days later stillborn. She was just over 2 pounds and had a number of to-be health issues. A very tough decision for them to make, and a grateful couple to everyone that helped them understand what Wolf-Hirschhorn is and how it effects our lives. He told me that we are doing the right thing with this site and will stay in touch.
For me, stories like this one are the hardest to be a part of. Nobody will ever know what Ruby would have become. We’ve all thought about how our lives would be different without WHS; both good and bad. Regardless, we are all better people for it and we hope that Ricky and his family will help raise awareness of this syndrome and pass the word whenever he gets the chance.
Good luck Ricky. Thank you for reaching out to us…
My heart is with them; I will never stand in judgment of their choice. Their baby is with the angels, now, and I wish Ricky and Emma peace and love in the future. xo
I learned of this story at the gathering at Lauren’s house. It brought me to tears. I only wish they could have seen how happy all of us are. The medical professionals really can’t be blamed either because they are just reading what has been researched. The studies on WHS desperately need to be updated. Until then, the doctors are going to keep telling people what we all heard upon diagnosis. “Never this, never that, no personality”…..blah blah blah. All of you know that WE never say never, regardless of what the geneticists and doctors say. I truly feel for Rick and Emma. My heart goes out to them for the decision they were faced with.
i have also chosen to end a pregnancy after receiving the wolf-Hirschhorn diagnosis late in the second trimester. I think it’s great you’ve left this post published for others in my unenviable position. I’m confident I made he right choice for my son (most days). He was born with all the deformatites and features that we knew about from ultrasound, but also no skin over his spinal cord at the bottom third of his back, which was missed on ultrasound. He passed away 2 minutes after he was born in my arms.