Are you ready for a long story??

As promised, here is the update on my daughter.

I have mentioned before that she was diagnosed with Global Development Delay and had serious food compulsion

In January, two weeks before school started, we saw our pediatrician, who after some tests, said my daughter had caught up significantly in development and could no longer be classed as GDD anymore, and was discharged.
At the time, I was ecstatic! It felt like a huge achievement…and it was (for a while…but I digress from the series of events)

The lack of diagnosis meant she was no longer eligible to attend her Early Intervention Program anymore, but after talking with the school’s principal, and the head teacher calling me after she heard the news, I was left confident that my daughter would be okay in mainstream schooling.
A couple of days before school started, I met with her new teacher (who has previously taught my eldest son who also has GDD) and made sure she was aware of the food compulsion and all the drama we have had in the past with her development, and her previous schooling. Being that she knows the in’s and out’s of our family drama (CF, GDD, work, army…etc) I was relieved to have such an awesome teacher for my daughter, and trust her completely.

Respiratory check ups are still happening

Around February of this year, the CF team officially said that my daughter does NOT have cystic fibrosis, after deliberating over multiple test results for almost two years. She is a genetic carrier, and has floppy airways…but no CF.
When I told the respiratory doctor about the food compulsion, and all the drama we had with the local dietician and pediatrician, he was immediately concerned. When I told mentioned that it was suggested to me that she might have Prader Willi Syndrome, he said it was his first thought too. I just about leaped over the desk to kiss him for taking me seriously!!
He called in the CF clinic nurse between them they organised referrals for my daughter to see a child psychologist and an endocrinologist.
After being previously being told “She isn’t fat, you have nothing to worry about” it was so nice to be taken seriously. Having two locks on your pantry, a lock on your fridge, “yummy” foods (biscuits and lunchbox items) out in our garage under lock and key, checking hiding spots daily….well…it isnt normal. I think I had a lot to worry about. The weight lifted off me when I had someone (and that someone being a medical professional) agree that it was not normal.

My daughter was marked as “urgent” on her psychologist referral, and managed to get in within four months…not bad considering there was over a year waiting list!! Apparently, there was a bit of arguing between the staff of whether or not for the psych to take on a child that young….but decided to give us a chance and see if it was serious enough.
The doctor was awesome. Within ten minutes, he realised that there was a legitimate problem. Ten minutes after that, my daughter was given the Global Development Delay diagnosis back (by this time, my daughter was starting to struggle immensely with mainstream schooling and our awesome teacher, with her wealth of knowledge and experience,  was even having a hard time dealing with her) I jumped for joy…and again…nearly leaped over the desk to hug the doctor! (hmm…starting a pattern here aren’t I?)

The psychologist agree that Prader Willi Syndrome (PWS) is a high contender for a diagnosis, but obviously, he can’t say anything further until she had a full metabolic screening and genetic scan (since PWS is an abnormality on the 15th chromosome) to rule out anything physical.

After leaving the appointment, I called the Early Intervention Centre, to say that my daughter had a diagnosis again, and we would like to return to finish off the year with some intensive therapy in their classroom, part-time. They told me that a psychologist can’t make a diagnosis of GDD, it had to come from a pediatrician. I was gutted. After talking to our school psychologist, she asked who it was we were seeing. After hearing his name, she said to ignore what had I just been told, this guy was qualified to make a diagnosis as he was also trained as a doctor. (YAY! Insert fist pumping here) 
So I called back the Early Intervention Centre to tell them the update, that she WAS eligible to join the program again. Unfortunately, because the program is so exclusive, autism takes  higher priority on their student intake, and there were two new students with autism due to start. There were no more spots left available (Insert gutted feeling here…again)

My daughter still needs a lot of extra attention at school

So we are still plodding along in mainstream schooling, but the school is actually trying their best to hep us instead of dragging their heels and twiddling their thumbs…especially when it comes to trying to find aid funding to give her extra attention in the classroom.

We have since seen the psychologist again, and autism was briefly considered…which completely knocked me off my feet. I hadn’t ever considered it for my daughter…my eldest son? Yes. but never my daughter.
The idea was quickly discarded though as while she shows some characteristics of autism, there is nowhere near enough “red flags” to warrant further investigation. Though, it is not uncommon for PWS patients to have some autistic traits.

To help with my daughter’s mood instability, she has temporarily been diagnosed with ADHD so that she can be medicated. The doctor doesn’t think she actually has ADHD, just whatever she does have has ADHD tendancies….but he had to give her a label in order to be able to give her medication (it was either that, or bipolar…and neither one of us felt comfortable giving that label to a six-year-old!!)
She is only on a low dosage, and it is mainly to level her moods while she is at school. We are up for review soon and hopefully by then, we have seen the endocrinologist and have some blood results to give us further answers. However, the tablets are making a massive difference to her behaviour and moods. It has even helped her food compulsion a bit!!

This psychologist is awesome. He has told me that he is willing to tweak the system in order to get her an aid at school, as he feels that she absolutely HAS to have one. (insert relieved feeling here)

Still no answers yet

I have to admit, I am nervous as to how the blood test come out. If they tested negative to Prader Willi Syndrome…then we are back at square one of “WHAT IS THIS?”

In the meantime, she is still seeing the respiratory specialists in Perth for her floppy airways. Apparently if she doesn’t outgrow it by the time she is about 8yrs old, she may require surgery. But they aren’t too worried about her lungs at this point as we (and I quote directly) “have bigger fish to fry”
But if it wasnt for the respiratory team taking me seriously…I honestly don’t know where my daughter would be today!!

So there is the long-winded story that I have been promising for months. There is still a lot to go…but at least the ball is rolling!

 

I just want answers….
Bella 🙂

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