11 year old needing Oestrogen

[MrsRaspberry]

Hi I'm just looking for advice about my 11 year old. For some background she was born at 37 weeks and was a good birth weight(6lb 4oz). Always looked quite small and still fitted in 0-3months clothes at a year old and always measured low on the centile lines
She was referred to paediatrics at two and a half years to see if there was any underlying conditions contributing to her small size and at 3 years after blood tests and genetics investigations she was found to have some chromosome rearrangement inherited from her biological father in a pattern not commonly seen or known of. She is still under paediatrics as they wanted to see how it would affect her development. At her review in January this year the doctor was concerned that she's not showing any signs of puberty and ordered more blood tests to check hormone levels. It has been found that she is not producing enough female hormones to develop naturally into puberty(doctor says this is due to the chromosome rearrangement) and she is now on a waiting list at the local children's hospital for an appointment and to be put on oestrogen treatment to kickstart her into puberty. Has anyones child had this treatment and how has it affected them both physically and mentally?any advice or insight would be greatly appreciated.

@MrsRaspberry I just saw this and saw that nobody replied. I cannot help, but hope your daughter is well whatever you decided.

Hi @MrsRaspberry
so sorry you’re going through all this with your young DD.

However, this is obviously such a complex condition, so please do accept my congratulations on being able to find the cause & now the treatment - not a minor achievement!
I speak as the parent of a DC with a different rare condition, one that ultimately requires almost the same ongoing treatment.

In our case, DC was mid-teen before we could confirm diagnosis (NHS rules, plus case too complex to take privately) Yes, they did have some psychological challenges with puberty being later than their peers, but with the right hormones they have caught up & now nobody would ever know. I believe that ultimately it has made them more mentally resilient, strange though that may seem.

There are many people who don’t have the determination and good fortune that we have & they aren’t able to be diagnosed or medically treated.

You aren’t alone in this and your DD will thank you for everything you’ve done, and will do. The future is positive for you both

eta typo correction

She had her appointment with the endocrinologist who has said for now as she isn't quite 12 yet so they want to hold off on the oestorgen for a few more months..she's had another review at the local hospital this month with her paediatrics team and he is still concerned that she isn't showing any signs of puberty at all(no breasts budding no underarm hair etc) so now awaiting her next review with the endocrinologist which should be around June time so it's basically see what they say at that appointment as she will be 12 by then. Physically there's nothing really wrong with her she socialises well and goes to a mainstream high school with SEN support.

Do you know which syndrome she has?
There might be online support groups for parents who have children with the same issues

I do think it sounds as though she has a careful and thoughtful doctor helping her.

Unfortunately not. All they've found is a rearrangement in some of her chromosomes. During development in my pregnancy some chromosomes had pieces of them break off and go back in the wrong way. Some pieces attached to other chromosome sets. It's not really anything they've seen before and genetic testing shows that it's inherited from her father..

Thanks for the update; best wishes for June x

He is a very nice doctor. She's almost 12 and he's been seeing and reviewing her since around aged 3. I think he worries about her being much smaller than her friends at school(which she is to be fair at almost 12 she's still mistaken for a 6year old as she's very small for her age. He always asks her if it bothers her especially now she's in high school and to be honest it doesn't bother her right now as I think she likes the attention of looking little and cute still as she isn't quite very mature for her age group either. She does great socially now but I feel as she gets older it's going to be more obvious if she's around 16 and older and still looking like a small child. Hopefully if she does have the oestrogen patches it will be a gradual dose and won't overwhelm her emotionally

There is a group called SWAN-uk which is a parent support group for “syndromes without a name”. That is, genetic things that are so rare no one knows much. Do look them up for support.

No specific advice but you might find some support from the S.W.A.N. organisation (Syndromes Without A Name) for families that are dealing with complicated effects of things that are too rare to have a name yet.

(Cross posted with @parietal saying the same thing)

Thankyou I shall look it up