Tag Archive | development

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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Good News!

A couple of weeks ago, my daughter (aged just over 5 years old) had a pediatric appointment.

It was a follow-up appointment from thirteen months ago when she was diagnosed with Global Development Delay. From that diagnosis, my daughter had a year of speech therapy appointments, occupational therapy appointments (like her older brother) and attended a kindergarten that had a specialized Early Intervention Program. It has been a very intensive year for her.

Anyway, back to the appointment.

The pediatrician conducted a Griffiths test on her to see how she had come along over the past year.

After going over the scores, the pediatrician concluded that while my daughter is low-average in development, she is no longer classed as having Global Development Delay! YAY!

She has now been discharged from the pediatrician, but is still on the therapists books, just in case she still needs assistance as she makes the transition to pre-primary. I am a little concerned over the fact that I don’t know if she will still be able to attend the Early Intervention Program this year, as she could definitely benefit from another year, but without the “label” of GDD, is she still eligible to attend? (I will keep you updated on that, I should find out next week before the school year starts)

This is weight off my shoulders, as it means one less child to attend therapy appointments for. We still have the respiratory clinics for her, and we are about to embark on the next trip of seeing psychologists for her eating habits (whole other subject….in due course!)

Hopefully we will still see her come along in leaps and bounds. Wish her luck for her new year at school!

Bella 🙂

Pseudomonas are bad…

We recently returned home from Perth where my son had his CF annual review…which didnt go terribly well.

The doctors were slightly concerned about his poor weight gain over the last few months. However, once they heard that during this period, he had about three weeks of a gastro bug, on and off, they weren’t terribly worried, we just have to work a little harder to get his weight back on track.

He has a few new exercises to do during physiotherapy, as he is now at an age where he can start deep breathing. They don’t expect too much from him yet, but more jumping around, tickles and blowing bubble are happily prescribed.

The bronchoscopy on the final day of annual reveiw was a massive drama. First off, I hadn’t received the usual phone call for fasting times from the hospital, and I thought I had worked  the times out correctly when I gave him a bottle of milk. I worked the times out wrong, which meant theatre had to delayed by nearly two hours.

When he was in the second stage of recovery, the young one started screaming. He was hysterical!! The nurses felt that it was like he was trapped in a nightmare as he got worse when anyone came within view or spoke, he would just scream harder. After an hour and a half of this, the nurses felt they should call the anethetist back in the hope to sedate him. When they finally tracked him down and he arrived, it had been two hours of screaming!! The doctor wouldnt sedate him however as his lungs werent in a good state and he didn’t want to take the risk of breathing difficulties from sedation….which meant we just had to ride his extreme (and apparently rare!) disorientation. It took nearly two days for him to completely get back to normal.

When the respiratory doctor spoke to me about the procedure, he had said that the lungs didn’t look so great, but they would have to look at the test results . He said there was a possibility that we would have to return to Perth the following week for treatments. I kinda figured then that we had reached the point where Pseudomonas (CF super bugs mentioned in previous blog posts) had entered his life. A gut feeling told me that we would be returning to Perth.

So when I called the hospital back after a few days for test results, the CF nurse told me that he had been flagged for Pseudomonas, but they wanted to watch the samples for another 24 hours to be sure. Yep…the next day, a phone call to confirm that he had them and he needed to return to the hospital to start intravenous antibiotics as soon as possible.

It has been bedlam trying to get organised as my husband is on the other side of the country at the moment for training. Getting a hold of him to tell him the news was a mission in itself! My son and I leave for Perth tomorrow to be admitted into Princess Margaret Hospital for Children, I will try to keep you updated

Now, I know you are probably sitting there wondering “What are Pseudomonas??” Well, to be honest, I can’t really answer that properly right now. I could spout off all this stuff, but I have no idea if its accurate. All I know, as my title suggests…they are bad!!  If untreated, they can destroy lung tissue, causing breathing problems, decreased lung function, and in worst case scenarios….death. There is no way of preventing it, and it is very common in CF patients. It can be found in water, food…all the common places.

I did something I know you aren’t meant to do, and I googled it. I had to stop myself because I knew that what I might be reading may be out of date, or different information due to geological location. I found this article, which was published earlier this year, which may help answer some questions.

My son doesn’t look sick at the moment. He is running around like a headless chook and eating everything in sight…then asking for more! He has a cough at the moment, which gets a lot worse in the cold air. This is the only indication that there is something going on in his little body. They said it may explain the poor weight gain.

But as I said…I will try to keep you updated over the next two weeks that he is in hospital for, but I’m not sure what the likelihood of that is.

Wish us luck and good results!

Bella 🙂