It has been a big week! We just came home from a week in Sydney Children’s Hospital at Randwick and have had some HUGE news.
Firstly, Eloise had her Autism assessment at ASPECT Australia and unfortunately was diagnosed with autism. I suppose this is the point where we should fall apart, but we are choosing to look at the diagnosis as a positive. Without the diagnosis of autism she would still be Autistic, but without the diagnosis nowhere to go from there, no funding for therapy, no chance for improvement. But with the early Diagnosis of autism Eloise has the best chance to close the gap before the “magical age of 5”.
After Eloise’s assessment Vicky, the assessor talked to me about not only the negatives we have gained from the assessment, but the positive things she saw in Eloise too. Eloise does have pretend play skills, although repetitive in its nature, are a huge benefit to Eloise and her development. She was also very adamant about how ‘visual’ Eloise is, which a lot of Autistic children are. This gives us a HUGE advantage, and opens up opportunities to communicate through visual aids, even through an I-pad, as Vicky was telling me. I-pads have hundreds of apps for Autistic children, and are used as a communication board for many young autistic children. We are very excited at this, as at present its very difficult to find out what Eloise wants, which is the cause for many tantrums! It would be great for her to be able to communicate in a way that doesn’t make her seem so different from other children.
As for Eloise’s dermatology appointment, Dr. Wargon is extremely happy with the progress of Eloise’s haemangioma. She has even said that she no longer thinks Eloise will need surgery (just 6 months ago the skin was very flappy, and she said without surgery would hang over Eloise’s lip) but just a little Laser treatment the year before school to hurry the process along a little. We are still using the Timoptol, which is a new treatment in the form of an eye drop actually, that’s applied to the haemangioma. We have been using it for 6 months and will be using it for the forseeable future.
I’m sure some people have seen the huge media coverage about the “new” treatment for haemangiomas called Propanalol. Eloise was actually one of the first in Australia to use the drug for haemangioma. Now its the main treatment for haemangioma.
The Gastroenterologist thinks that Eloise’s gastro issues are related to her Autism, as a lot of her symptoms are indicative of this.
Eloise is still being weaned from her Epilim, with no seizures so far.
Eloise’s DNA test came back with no abnormalities visible. This test skims over all pieces of DNA, looking for a piece missing, broken or doubled. Unfortunately this technology cannot look within each piece of DNA, to find the gene responsible. But this technology isn’t far away!
The Geneticist has taken my blood, Eloise’s blood, and Michael’s blood will be sent down from home to be saved for the near future. She is very excited that technologies have come forward so far in recent months and they are close to a breakthrough, giving us the opportunity to use new technology to find the gene responsible for Eloise’s NEHI. She said definitely in the next 1-5 years they will have the technology available, and they are looking for such cases as Eloise to use the testing on. They will also be able to offer us gene therapy, which involves testing embryos before transferring via IVF. They are offering this to us at no charge!
Now is the time to sit down, because we have some amazing news.
Eloise was seen by physio, and had a repeat exercise test from 6 months ago. 6 months ago her resting sats were 92, and desats down to 86 when running around. Just 6 months later, Eloise’s resting sats are 98-99, and down to 95 (94 for just a tiny tiny moment) when running around! After this I was SURE Eloise would be taken off oxygen completely, and began telling my new friends that I met at the hospital that also live in Wagga. Hours later we received the news that… (suspense..)
ELOISE DOESNT NEED HER OXYGEN ANYMORE!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
The specialists were not expecting this for quite a few years to come, and it is just AMAZING how far Eloise has come in the last 6 months! She still has quite a high respiratory rate, retractions and coughs quite a lot without the oxygen, but her sats are just beautiful in room air! Eloise will still need oxygen when she is unwell, and she still has NEHI so her lungs aren’t functioning as normal, which is easily noticed from watching her breathe, but she no longer needs oxygen! In the last 6 months she has come forward in leaps and bounds! We are shocked and amazed, and so excited about putting this time of our lives behind us, and looking to our future. And it looks amazingly bright!