This site has been a wonderful resource over the past couple of months, since my daughter's diagnosis - thanks to all of you for creating such a supportive on-line community.
I'm wondering if there's anyone else out there whose child has a small chromosomal deletion (1 MB or less). If so, I'd be very interested in connecting... we're trying to figure out as much as we can about our daughter's prognosis, and there are so few cases like hers identified in the published research.
Thanks!
Hi Rachel,
My daughter Kendall has a deletion signified as "the most terminal clone on 4p through 4p15.2, with the size being 3.3-4.8 mb". I would put Kendall on the mild side of the spectrum, so I'm not sure that the size is all determining. There is also a critical region, which from what I understand could present full blown expression of whs. There are a lot of factors that go into this syndrome.
We also looked for answers that you are seeking and we found that each kid is unique... I hope this helps.
Hi, Kevin -
I agree 100% that size is not all determining and that every kid is unique!
Still, we're getting involved on the research side of things and finding it pretty interesting. The better the technology gets, the more kids with very small chromosomal deletions will probably be identified, and as that's happening, researchers are starting to correlate specific genotypes and phenotypes to each other.
My daughter is indeed missing the WHS "critical region", but it turns out that relatively few of the surrounding genes are affected (her deletion is 380 kb or .38 mb). She has some elements of the classic presentation of WHS (like delayed growth and motor/speech development, some feeding challenging) but not other elements (almost none of the "typical" facial characteristics, no seizures, etc.).
So, I'll leave my question out here for now. I don't think the research will give us all the answers by any means, but if anyone else reads this -- now or in the future -- and is interested in connecting and comparing notes to see what we can learn from each other, I'd love to talk.
Thanks!
Rachel
Hi Rachel,
We have never received details about the size of the deletion, but when our son James was diagnosed with whs (at around 20mths) we were told that it would be unlikely he would either walk or talk. James had severe developmental delay, feeding issues and seizures. James subsequently had a gastrostomy and has been tube fed since.
James doesn't have the 'textbook' facial features often seen with whs either.
I think it's important to mention that James is now nearly 7 y/o and attends his local primary school, in a normal class (albeit with assistance from a teacher aide) with all the other 'normal' kids. Although he doesn't keep up with the other kids either physically or intellectually he interacts with them well and enjoys their company. He is still tube fed through his gastrostomy, but can feed himself a pot of yoghurt by spoon and will eat toast himself if chopped up into little squares.
James, despite his prognosis, can also walk (run/jump/skip etc) completely unaided. He can also form normal sentences that are quite clear and understandable. You can have a conversation with James. He can even write his own name (not the best handwriting ever, but neither's mine!). James attends horse-riding classes (for the disabled) every Tuesday, and gymnastics every Saturday. He jumps on the trampoline with his younger brother and sister, plays completely independently on our swings and slide and has recently taken to playing soccer with me in the garden. We bought him a bike (with training wheels) for Christmas - he can pedal and steer unaided the full length of our driveway without killing himself or his siblings!
James has had huge dificulties in his first 7 years, but he has blown all the professional expectations we were given at diagnosis right out of the water. I don't think either my wife or I really believed the limitations we were given and I'm pleased to say he continues to amaze us with his progress. Years ago my dream was to be able to walk with him hand-in-hand one day. I get to do that every day now - and much, much more.
My one suggestion would be that you don't put any limitations on your expectations for your own daughter - you'll be amazed what our kids can achieve.
Happy to share/talk anytime - just let us know.
cheers
Brian
Hi
We were told by our geneticist that Harry had a large deletion when he was first diagnosed. She also said that the size of the deletion has no relevance to how much the child will be effected. She said we would have to wait and see how he developed over the years.
Hope this helps
Carol-anne
Hi Rachel
My daughter Sage will be 10 on Friday. Her deletion is said to be one of the smallest ever recorded for WHS. I believe your daughters is even smaller. Sage's deletion size is 1.7mb and is in the 4p 16.3 region. THis was done through a Chromosomal Microarray Analysis DNA test back in 2008. She had been undiagnosed up to that point as her deletion was so small. It absolutely does matter the size of the deletion. The larger the deletion the more problems the child will have. Sage has just been approved to be in the Harvard Medical journal and is part of a research study through one of the largest geneticist lab in Utah. I would be happy to give you her geneticist name if you would like. She is at Boston Childrens Hospital and would be very intrigued to hear from you.
Sage also has very few facial features of the syndrome. She has never had a seizure nor any heart problems. She has reached all of her milestones on time except for her speech and handwriting. Her speech is now on track and her handwiriting is also much better. She goes to a private school and is in a regular class. She is one grade behind because we started her a year late. THe program is a highly competitive British curriculum and although she has her challenges she has kept up with her class with no additional help.
Our main struggle her whole life has been her eating. She struggled with vomittingand hypolgecemia for the first few years of life and had a GTube put in place when she was 14 months old. She now eats regular food with her tube running at night for extra calories. She is very slim, however in the 50% for height. Her mouth is very small and her second teeth are having some issues as they are very crooked. We also had problems with UTI infections. This has corrected itself over the years. She is a very loving little girl, very organized and very happy. We have her in Speech therapy twice a week as well as OT once a week. She taked 3 dance classes a week and does horseback riding.
I can go on and on. Let me know if you would like to discuss further.
Take care
Gretchen
This is the age old question of Nurture vs. Nature. I think that part of what makes it a bit more complicated than deletion size is the type of support and expectations placed on the children by their parents as well as the other genes present on teh 4th chromosome as well as every other chromosome. Since no two of us are alike, nor are any two WHS children, we each bring a distinct set of genetic "tools" to the table in terms of genes that are specific to US as individuals that may compensate for or add to the complications of the syndrome.
That being said Norrah is said to also have a small deletion. I was told that small deletions are "up to 3.5 Mb of material." Norrah is missing 3.2 Mb.
She is VERY healthy. She has no immuno deficiencies and is rarely sick. She did have GERD but has never been on a feeding tube and has NEVER been labeled as "failure to thrive." Actually, from the time she was born until this very day (she is almost 3 years old) she has been on the typical child growth chart for both height and weight. She is around the 50th percentile for weight and the 40th percentile for height (again that is on the typical growth chart.)
Norrah walks without assitance (except for orthotic supports in her shoes), talks and continues to eat normally. She is developmentally delayed but her delays are not severe and she continues to make ground.
She does have a heart defect (5mm ASD) and kidney reflux (which caused only one UTI in her life) both of which are non-issues and asymptomatic, though we still follow them regularly with specialists. She was also diagnosed with epilepsy after two febrile seizures and one non-febrile. Since then she has had only two other seizures. She is on a very low dose of medication and her epilepsy is very easily controlled. She rarely gets "bugs" has never had pneumonia and gets over her few illnesses quickly. She has very few of the "typical" facial features.
I would say that Norrah is mildly affected.
Whether it is because she falls under the 3.5 Mb deletion threshold or whether it is because of her compensating genes and encouraging family (especially BIG SISTER) I am not sure. But she is certainly our little miracle and continues to defy what the outdated medical research says of the condition.
I know of a few children who seem to have many less markers than Norrah and I would venture to guess that they have even less genetic material missing. However, I can see that there are some children with very large deletions who also have less markers and less delays than others with smaller deletions.
To some degree it remains a mystery and it is my belief that nature AND nurture play a roll in our children's development.
I am really not sure what is considered small.. i was told my son's deletion was moderate (2.5mb) I personally do not believe the size has a lot to do with the effects on the child. as i have seen other children here doing better at some thing then my son and their deletion is bigger. I think i am a amazing mother and do everything for my son, so i don't believe it is because they are better parents. My son does not have all the same issues as every other child with WHS whether it be developmental health or physical..He is very tiny. eats awesome (just texture issues) no feeling tube (but it was huge fight not to), does have seizures but maybe not as many as another child, but another little girl with a smaller deletion is having way more seizures then Talon ever did. And my Talon looks like he has WHS and is absolutely gorgeous! there may be a significant difference from a large deletion then a small, but i don't believe the size is a huge factor.. Every child to seems to be very unique in every way.
I wanted to add.. after i read it.. so i am not misunderstood or offensive.. I do think all the parents i read about are amazing i was just stating the fact that Talon may struggle with different things it is not from a lack of support, love and affection and but i do believe our children do so well because of the support of their parents and families.. And that all out children are gorgeous.. not just mine.. but i meant that he does "look" like he has WHS.. and more then a few children with bigger deletions
I have to agree with others and say that there is more to the affects of the syndrome than deletion size alone. Riley is not in the small deletion category at all, her deletion is 8.9 mb, from 4p16.1-16.3. However at 26 months, she is sitting, crawling, cruising along furniture, pulling to stand on everything, and walking everywhere with a walker. She is following close to 30 commands receptively. Based on her deletion size alone, these are not things her doctors expected her to be able to do at this age. I think there are many factors that have gotten her this far. I don't think we can look at our child's deletion size and put any expectations on their development based on that alone.
There is some fascinating information on this thread, I have learned alot- I did previously assume that if the larger deletion size the more inescabable the symptoms- I see that is not true and it is remarkable what all of our kids are doing whether they struggle more with speaking or with muscle tone or battling sickness, I was hopeful before that since Brodie's deletion size was fairly small 3.84 mb, that he might avoid seizures or a feeding tube etc. but he has had seizures, and has not gained weight for 3 months, but I'm starting to see the importance of not getting discouraged and the importance in not "hoping things don't go wrong" but rather being Brodie's biggest cheerleader and biggest advocate and helping him be all his genes will let him be and more....having said that.....I do see that this thread has strayed a bit from the original question and I do hope more research is done on those micro-micro deletion kids to begin to attempt to match specific genotypes to specific phenotypes if it can be done, say a child has a .5 deletion in a specific region and another child has a .5 deletion in the region adjoining and one has seizures and the other doesnt i suppose they can start to pinpoint specific genes responsible for certain symptoms....that would be very useful to know that your child is likely to face having UTI infections or kidney trouble or seizures because they are missing that specific gene....so Gretchen please keep us posted on the study your daughter Sage is in, I'd love to hear more eventually.
Hi all,
As the one who put this question out there in the first place, I wanted to thank those of you who have weighed in on this conversation.
Clearly this is a sensitive topic and strikes a nerve for some. My aim really was not to imply that the size of a deletion is all-determining. I think WHICH genes are missing probably matters much more than any straight measure of SIZE. And of course, as many of you have said well, there are plenty of other factors -- including on the nurture side of the nature/nurture divide -- that determine how each of our kids will do.
I think LeeAnn just summed up my hopes well: that if more research is done with some of our kids, ALL of us (and also countless parents of WHS kids to come) will benefit from receiving more specific and more accurate information about what to expect along with our kids diagnoses.
The fact that so many of our kids seem to be defying doctors' expectations doesn't surprise me. A few decades ago, only the more severe manifestations of WHS could be recognized (clinically) and diagnosed. The WHS cohort broadened with the introduction of chromosomal testing, and the more refined the technology gets, the wider the spectrum of kids gets (with the growing end being the kids on the mild side of the spectrum who couldn't have been previously diagnosed). So, I expect that we will be seeing more kids with micro-deletions in this community in the coming years...
Gretchen, I look forward to reading the study that includes Sage. It sounds like we're in touch with some of the same researchers, and I'm grateful for your willingness to put this research out there to help advance the field.
Again, thank you all for your willingness to share so much about your children. I am encouraged by the fact that James can jump on a trampoline, that Norrah is healthy and has never had a feeding tube, that Sage is in a regular school, that Riley can cruise around, etc. This community is incredible, and I have no doubt that we are going to rewrite the rules about Wolf-Hirschhorn!
All the best,
Rachel
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.
I finally got in touch with our geneticist and got the numbers of Denise's deletion. She is missing 3.9 MB, from 16.3 to 16.2.
Denise is now 30 months old, and she is loving life! She is walking, playing with toys, and even though she is saying just a handful of words, she is able to make herself understood most of the time. She is eating much better now, but she is still gaining slowly - she currently weights around 17 pounds.
i' m from South Africa and my daughter nomfundo has 4p15.2 deletion i'm not sure about the mb,she is 3years 5 months but still cannot talk,seat,stand and walk she just recently learned to grasp toys, she feeds orally but cannot chew. she currently weights 16 kg
i however think the is something I'm not doing right because children of her age group can walk. please help if you can.
Hi Rachel and all.
My son just got diagnosed 4 days ago :( We are very sad! They said that his deletion is smaller than all other deletions reported in patients with WHS to date. The name of the test is "MIcroarray CGH Result" This deletion is below the level of resolution of fish. We had this done in Seatlle @ Children's hospital.The size of the deletion is 60Kb or 0.058 Mb Anyway, he is doing fine... He has some of the caracteristics big forehead, smal lips and chin, little slow, he doesn't like to eat much. He will be one year tomorrow and this is the things that he is doing: He sits unsuported since 8 month, he can stand for 10 minutes holding the furniture, he can sit from supine position, he is almost crowling. He never gag, vomit, seazure,it looks like he doesn't feel to much pain, he sleeps a lot. My big problem with him is that he doesn't like to eat or to drink milk.... love H2O in the cup. He is 17 pounds, zero % tile, he has a NG tube. He borned 38 weeks, 4 pounds 6 Oz.
Sorry if my English is not good!
Thank you and I will pray for all of US....
Mom of Lucas
Hello, Mom of Lucas -
We're in Seattle too -- would love to connect. Email me at ranussbaum@hotmail.com.
Thinking of you,
Rachel
I don't know about the mb part because we have never been told. We have been told 4p16.1 I will be asking her Dr. what the size is the next time we go though. We were told that Taylor would not walk or talk. She is walking and can say about 10 words now.
I am not sure of my childs deletion size, check out her blog at amariahtreasure.blogspot.com for that information...it was called a microdeletion
You must log in to post.
