Tag Archive | endocrinology

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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Latest health update

Hi all!

We have been home from our latest check-up visit in Perth for a week now, but I have only just now had a chance to give an update.

Sweat test device

We took our middle son, who is four and a half years old, with us for his sweat test to see if he has cystic fibrosis as well. He was one of our kids that we put a question mark over when we found out our youngest had CF. However, due to the long process we went through with our daughter’s diagnosis (or lack thereof) he was put on the back burner. However, I am very pleased to announce that his sweat test came back within normal levels. He does not have CF 🙂

We do not know yet if he is a carrier. He has to make the decision to be tested for that when he is older. Trust me when I say that we will be strongly advising him (along with our eldest son, whose sweat test also came back negative) to undergo that test!

Back to my CF son….

The respiratory doctors were basically “Thanks for travelling 450km. Everything is fine, we will see you in three months!” I guess you can say that is annoying, due to the travel, but its the best outcome you can hope for!

The dietician would like us to write a diary of his food intake for about a week before we return for the next visit so they can see how we can tweak his diet to boost his iron intake (as he is slightly iron deficient) I’m not sure how else we can do this without medication as he is an absolute carnivore! We try leafy green vegetables, but good luck getting those sort of foods into a two-year old! But they want to retest his iron levels in three months.

My son's daily dose of medications

The gastroenterologist was concerned that my son was at his maximum amount of enzyme tablets (pills to help digest food) a day, yet was still pooping too much. So he has been prescribed another medication, Losec, to help the enzymes break down. They will see how he is going at the next clinic.

We found an instant result with the new tablets. They almost work too well. But we can reassess later on. But for now, at least my house doesn’t stink as bad! But the poor little blighter is now on six different medications a day (that’s just when he isn’t sick!)

Overall, it was a successful trip for my youngest son. But, the biggest thing that had me walking out of the hospital smiling, was the fact that the doctors have taken me very seriously in regards to my daughter’s eating habits. They have agreed that we aren’t very well supported back home, so they going to class her as “CF” so that we can see their child psychologists on their team. Since she is coming with us again on our next visit, they are setting up an endocrinology appointment to rule out anything physical, since no psychologist will ever take us seriously without having ruled that out first. I just about kissed the doctor when I realised he was taking my concerns seriously, and was just as concerned as we are. A weight got lifted off my shoulders when I mentioned to him that it had been suggested to me in the past that she may have Prader Willi Syndrome, and he said it was one of his first thoughts of possibilities, but we have to do the endocrinology first.

It was the first time ever that I walked out of the hospital happy and relieved!

There will be more news on my son at the next visit in three months time when he has a heap of blood work done to test all his levels. So I will update you all again then!

Bella 🙂