Niece may have Williams Syndrome. How to start convo with parents?

[JessiCai]

Hi all,

I'm really hoping for some guidance here and I need it ASAP! My niece is almost four years old and shows many of the signs of Williams Syndrome. Her parents seem to have no concept of how delayed she really is. After spending the last few days talking it over with my mother she is flying here in two day so we can talk to them about it. Even if it is not Williams there are issues that need to be addressed. We are looking for some insight from people in the know on how to have this life changing discussion with them. Truly, any information would be helpful.

Also, if anyone is in the Kansas City area and has a suggestion for a specialist, that would be wonderful.

Thank you so much for reading this and I hope you can help us!

Jess

[anj_rn]

I am curious as to what you are seeing that makes you think Williams Syndrome (it is rare).  Also, is your niece seeing a pediatrician?  I ask, because at 4, most developmental delays for WS are fairly obvious, and I would be surprised that she has not received a referral.  

Now that being said, I am going to specifically answer your questions about how to start the convo.  I do not want you to take this the wrong way, but I am looking at this from the perspective of a pediatric nurse and the mom of a special needs child.  No parent wants to hear that their child is delayed.  Ever.  Especially not from someone who is not a medical professional.  So I just want you to be prepared that this convo will probably not be well received, esp if your mom is flying in just to confront the parents.  Also, it is possible that they have a referral (and maybe even a diagnosis), but are not sharing that with other family members yet.  My husband has a cousin who is an Aspie, his parents denied that their was anything wrong until he was a teenager.  He had been receiving treatment the whole time, the parents just did not want anyone in the family to know about it.  I was 17 when I met him the 1st time, and that was my first question, so it was very obvious.

If you are determined to have the convo, I would start with your observations about delays.  Do not mention a dx.  Something like, I noticed that ___ has problems with this task.  Have you noticed the same thing?  Then listen.  You can also ask if their pediatrician is concerned.  If it was me, I would prefer one of my family members to approach me one on one.  If it was my in-laws, I would prefer they talk to my DH.

[PennyPerez]

I agree with the response of how to handle talking to your niece. Very good suggestions.

On a different note, my son has Williams syndrome, so in the event that she does get a confirmed diagnosis of WS, I am happy to provide any information I can. I am also the CEO and founder of Williams Syndrome Changing Lives Foundation, www.wschanginglives.org, in the event that you get a confirmed diagnosis.

Penny 

[JessiCai]

Well my mom is an Anesthesiologist and was a nurse throughout my childhood so when there is ANYTHING wrong with a member of my family she is who we speak to about it. We considered the possibility that they already know, but it does not seem a likely possibility. I also don't believe she has a regular pediatrician. I am pretty sure that they get most of their medical care at health clinics.

My mother and I have always noticed that she was a little behind, but she is their first and only child and we chalked it up to them not engaging her enough. I don't have any children of my own yet so I had very little experience with young children until I started a new job recently. I work with two year old children who are far more advanced in their verbal abilities than she is. She is unable to form of her own. She can repeat things she hears such as, "I'm so cute" or names of things like foods and books. She doesn't ask for things such as food, water, or Mommy. And at nearly for she is still not a very sure walker. She has the gait of a child much younger than she is. Beyond her delays she is also obsessed with music. She is always singing gibberish or playing with her instruments. On top of these things she has no problem at all with strangers. Also, she has nearly all of the facial characteristics of a child with Williams. If you look at the image at the link below she has most of the ones listed and the child shown could easily pass as her sibling.
http://greatmindsofscience.tumblr.com/post/32154361896/whatsyourdiagnosis-williams-syndrome-williams

I know that no one wants to hear such a thing about their child, but we don't know if they are truly unaware of her delays or if they are trying to ignore it. And regardless of what it is, we need to get her the help she needs. We considered not bringing up Williams at all and simply stating the issues we see, but we worried that because it is so rare that the doctors or her own parents won't even know/think to test for it.

[fizgig]

Hi JessiCai, I will be perfectly honest and say that I definitely think you shouldn't bring up any specific syndromes.  Obviously you care about your sister and niece, but you are in no way qualified to figure out what's going on. 

Developmental delays can be caused by about a thousand different things, including language and gross motor skills. 

That said, it does sound like there might be some kind of delay that should at least be assessed.  I think I would be a gentle as possible, just say that you've recently noticed that she might be behind and that it couldn't hurt for her to see a Dr to see if she needs a developmental pediatrician. 

Don't be shocked if she rejects what you are saying.  Accepting that there was a serious problem with our son was a long, painful (and ongoing) process.
 

[Linda on the move]

What are you wanting her to do with this information? It sounds like they don't have insurance ? What actions do you want them to make, and are those actions realistic?

I agree with the others that you and your mom are completely unqualified to diagnosis anything, and that the conversation will most likely go badly.

I'd stick with what you see, not what you think it means. I'd also research what her real options are for intervention and give her phone numbers.

Do not tell any parent that they need to "do something" or tell them their child needs treatment/test/therapies that they have no way of accessing .

You could check with her local school and find out how to access preschool , which should be free fit her due to her delays.

[anj_rn]

i agree with the PP.  If you are sure that you want to intervene, you might want to take the road that, I have noticed that ____ is developing at a different rate than other children.  Did you know that the school district will provide FREE Pre-K and educational support in instances like these.  It would be a great way to help her be with other kids and make sure she transitions well into Kindergarten.  That is less threatening.  Also, an eval for school for "free Pre-k" is not as threatening as seeing a developmental pediatrician.