Needing advice

[Anonymous]

<p>As some of you know my baby girl was diagnosed with WHS at my 20 week scan after they discovered she had a diaphragmatic hernia and club feet. After my lastest scan (27weeks) the specialist has noticed a cyst on her brain and that she is small for her gestation age. Does anyone have any information/advice regarding any of the above? From what I have read on the net the cyst she has is quite typical of WHS, however Im not sure how true this is. I have been told my baby girl is most likely not going to survive birth…i am not at all ready to give up. I still believe there is a chance she can fight this! Any help you could give me would be appreciated. Thank you from NZ x
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[RossKey Master]

Hi Mel, I’m so sorry to hear you’ve had what I know must seem like more crushing news.

As you no doubt already know, WHS babies are typically very small for gestational age – so that is not unusual per se. Mia sat consistently below the 3rd centile throughout the pregnancy and was born at full-term weighing less than 4 lb (2 kg), which is within the ‘normal’ range for WHS. If your doctor hasn’t seen these already, I’d recommend printing out the WHS growth charts from here http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2413080/ and giving him/her a copy. Not that it’s their fault, but a lot of doctors (ours included) just haven’t had exposure to WHS before and, rather than get frustrated, I try to approach it as a learning process for all parties concerned. As others have said elsewhere on this site, it is inevitably the parents who become the ‘experts’ after a while.

Mia had an MRI brain scan shortly after birth and she, too, has a few cysts. Again, we were told this is fairly typical and something to keep an eye on rather than be overly concerned about.

I can’t imagine how devastating it must be to be told the baby you’re carrying probably won’t survive. If it isn’t too difficult for you to talk about, what specifically makes the doctor think this? While not without its risks, diaphragmatic hernia is an operable condition and neither club feet, brain cysts nor IUGR would indicate, to resort to a horribly stark medical term, ‘incompatibility with life’. Bear in mind it is some doctors’ approach to prepare parents for the worst, hence why the picture they paint often turns out to be darker than the eventual reality.

While I’m not a fan of the phrase, I hope you can find hope in the fact that there are a lot of examples on this site of babies ‘proving the doctors wrong’. Please know we are all here to offer what advice, comfort and support we can.

Stay strong,

Ross

[Anonymous]

Ross you are amazing, you have put into words what I have been thinking but struggle to say in a way people understand. Thank you for replying to my post so quickly. At this stage I am completely lost and feel that the doctors are looking at peanuts condition as only ending in one way. I appreciate that they are preparing me for the worst outcome but I am struggling to come to terms with it and refuse to give up hope.

As for what makes the doctors think the worst…i really can’t answer this, infact I have been wondering the same thing. As you mentioned I think this may be a case of the doctors here in NZ (or anywhere around the world) not knowing a lot about WHS and therefore are not exactly sure what they are up against.

As soon as the CDH and WHS was discovered they straight away told me her life expectancy was not at all good and now that they have found the cyst on her brain they have told me that she would basically be a miracle to survive. I believe she is a miracle and has every chance in fighting this. I am trying to prepare myself for all outcomes but as I say I am not ready to give up on my baby girl.

From what I have been told the future of my little girl will be much clearer after the MRI…I have 101 questions for the specialists at my next appointment in four weeks when the MRI is scheduled.

I have also been told that due to the size of her deletion (13mb) it is likely to mean she will be severely mentally and physically “challenged” (or “retarded” – Im sorry but I cannot stand this word). From you experience/knowledge does this sound right? From what I have read there is no proof to say the size of deletion means the child will be better or worse than a child with a smaller deletion.

Thank you again Ross, you are amazing and have made my day with you reply x

[LeonieMember]

Melissa, like I said to you the other day, I was never under any impression that Sabrina’s cyst was anything overly dangerous. They kept an eye on it to make sure it wasn’t getting any bigger or anything but it went away.

As for the size of deletion, all I know about Sabrina is she has “classic” WHS. I wasn’t given any intricate details but I’m sure I could find out if you think you’d find it helpful.

Glad you haven’t given up on peanut despite the “professional opinions” And Ross is right, it is probably just their lack of knowledge. Everyone here could tell you what little fighters our WHS kiddos are

[RossKey Master]

I’m more than glad to be able to help, Mel.

With regards to deletion size, from what I have read I think you are right in that there is not necessarily a correlation with severity. I wrote about our experiences in this area on another post, so will just copy and paste that below rather than try to reiterate.

One word of warning I would give is not to expect too many answers to your questions following the MRI. Every parent (myself included) instinctively wants to know whether their child will be likely to achieve X milestone by Y years old but in my experience it is an unanswerable question, or one that no doctor will give you an emphatic response to one way or another at any rate.

…
I guess this may vary from country to country, we are from the UK and the size of Mia’s deletion had never been mentioned to us by any of the doctors we have seen. But, off the back of this discussion, I raised the point during a meeting with our geneticist last week. Here is her written response:

“As 4p deletion is now a standard part of diagnostic testing, we test to detect the deletion and do not routinely look at the size of the deletion. From reviewing the information we have it is clear she has a 4p 16.3 deletion, therefore the standard deletion found in Wolf Hirschhorn. As you are aware, the deletion size in Wolf Hirschhorn can vary from 2.5 Mb to a maximum of 30 Mb if it involves the whole of the short arm of chromosome 4. On average the deletion size is about 10 Mb – it is clear that Mia has 4p 16.3 deleted but not a deletion of the whole arm of chromosome 4. We discussed it is more helpful to look at the clinical picture to see how the child is doing, and Mia is currently doing very well.”

So, I am still not sure how big or small Mia’s deletion is and, from what you have all been saying, it may be of little consequence anyway.
Thus far I’d say we have been incredibly fortunate in that Mia feeds well, has none of the obvious physical anomalies or serious medical conditions associated with the syndrome, has been seizure free and is generally developing well – albeit at her own rate.
That said, she is still only 5 months old and, as the paediatrician told us right on day one, looking at any child’s genetic report, brain scan or other test results is like looking at a powered down computer. It is only as they grow and different parts of the ‘system’ get fired up that the full picture will be revealed.

[cordillhMember]

While Riley, our daughter with WHS, did not have a cyst in her brain, our son, Noah, 11 months, did. They found two cysts during a routine ultrasound while I was pregnant and right away started saying possible Down Syndrome, etc. Another ultrasound a few weeks later showed that the cysts were gone and talking to our specialist, we found out that many babies have them in utero and even at birth and they go away on their own and pose no danger to the baby.

As far as deletion size, I agree with everyone else. Riley’s deletion size is almost 9 mb, “classic WHS”. At 2 1/2 years old, she started walking independently, even though according to the doctors, she probably never would based on her deletion size. There is so much that doctors do not know, not only because they are not educate on WHS, but because our kids are constant proving their strength and determination to live amazing lives. Do not give up hope. Your baby girl deserves every chance in the world and I hope the doctors are able to support you in that.

[Anonymous]

Thank you all for replying to my post, it means so much to have the support from you all.

I will never give up hope for my gorgeous baby girl and know deep down that she has every chance of fighting the battle ahead and growing up to be an amazing little girl.

Thank you again for your words of wisdom, you have helped me more than you know and I will be sure to keep you updated as to peanuts progress and how she gets on with the MRI in a few weeks time.

Mel x

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