TIF Conference 2011-Antalya Turkey

It had been a hugely beneficial conference. Right after the conference in Antalya, there's so much thoughts in my mind. I have now organised my thoughts and decided to pen them down by updating my blog.


Firstly, I feel ashamed at my lack of initiative in getting in touch with the local thal society-Johor State Thalassemia Society. In fact, they have not sent any representative for the conference. Radlan and I were the only ones from Johor and we were self-sponsored. The Malaysian parents & patients had gone there in throngs, mainly from Kuala Lumpur, Penang, Perak, Sarawak & Sabah. Hey, friends from Malaysia, it was indeed a pleasure meeting and getting to know all of you there! There's much passion from Malaysians even on the international level. I hope we all keep that spirit going, we can do much more when we are united with our cause. Right now, I should get myself registered as a member of the Johor State Thalassemia Society. How? Well, someone please send me a link?

Secondly and most importantly, we are working towards the best care and management posssible for Adel Rais until he gets his bone marrow transplant. I've discussed this with Radlan and we are going to enlist the world's best haemotologist to work with team Singapore. Singapore may have one of the best hospital in terms of facilities, but we have to be realistic that the numbers of thalassemic birth is close to zero, hence their experience for thalassemia is lacking. We have indentified whom we wish to care for Adel. I'm going to figure out how, it may turn out that, we may have to go overseas every now and then.

In order to get him the best care and management, it is probably apt for us to start from the "drawing board". It's been my nagging suspicion that the rare mutation that Adel carry from Radlan which is from Mediteranean decent, may manifest in a way which is different, perhaps more severe than the South Asian mutation which I carry or others from this region. The question we had, which went unanswered, like why was his iron absorption so quick causing hepatosplenomegaly at such a young age? It got my attention when we heard that Thal Intermedia, which once thought as a milder form of Thalassemia can manifest in a huge spleen very quickly if it's not treated with consistent transfusion and chelation. We are going to start by sending our blood and Adel's to a research lab in Bangkok and get them to look into the genotype and phenotype of his mutations. Our current suspicion, is Radlan's mutation could be of Thal-Intermedia type.

Next thing to do is, to get MRI Ferriscan or a T2* done on his liver/heart. By doing so, we can properly assess the amount of iron in his liver/heart. I have often suspect the serum ferritin test on blood is an inaccurate assessment for iron levels in Adel. This is another gained knowledge from the conference attended because, Thal Intermedias have low serrum ferritin, however, they can get so sickly beyond comprehension totally inconsistent with the measure of iron by serrum ferritin levels. I will have to discuss this with the doctors on our options, and meanwhile "educate" lil boy about Ferriscan/T2* so we can avoid g.a for this. He's a good boy, I hope he will trust us and allow us to do it without a g.a. Doing an MRI on 6 monthly basis, will let us know if our current program is working for him or if needed tailor a chelation program that is optimum for Adel.

Lastly, we are hopeful that the preparative regime to bone marrow transplant is getting less toxic and better by the years. Once this little boy is stronger, we will work towards a bone marrow transplant.

It was indeed God sent, that we have met the most amazing doctors in this conference, made contacts with people in the manner which I had least expected. All seem able to contribute when they have heard my story. I kind of believe that there are "secret hands at work" in the universe. I will not say more until there are more concrete plans ahead. For now, let the journey begin towards a cure for Adel.

All's well that ends well -shakespear

I'm so glad there is no mention of storage disease or syndrome anymore from doctors. Looking at Adel now, the doctors now believe that he's just "unlucky" to have Beta-Thal Major & congenital heart disease rolled into one. We now know that we had not managed him well and that chelation and nutrition are probably the answers to the whole host of medical conditions.

Adel's abdomen has shrunk. Thanks to Exjade (an oral chelator). However, we are still mindful and wary of the side effects and getting his renal & liver blood tests done very 2 months.

We are starting him OT/DT by getting him started in a special school! Wow, so looking forward to him going to school.

He's been off CPAP/O2 for the longest time sometimes up to 3-4 hours straight, that we feel he now may not need his ventilator anymore. Of course, it takes time to be completely weaned off O2. He fell asleep on New Year's Eve without any CPAP/O2 and we got a bit worried, however when we hooked him up on the pulse oximeter, his sats were not under 95%. Amazing! Next follow-up with his pulmonologist/cardiologist on the 31st January, we will schedule him for a sleep study and see if we can be completely off CPAP.

During the December school holidays, we did a HLA check on Adel and his siblings. We were pleasantly surprised that Adlan & Nayli are both perfect matches for him, should he undergo bone marrow transplant for a complete cure of his thalassemia. We got in touch with the Malaysian transplant doctors in Kuala Lumpur and we are going to discuss with them on the possibility of BMT.

It will be my project this year to get the most experienced doctors in the world (US/Italy/Singapre/Malaysia) to work in tandem on possibly a "reduced intensity BMT" for Adel. I really need to maximise his chances and reduce all risks for my precious little boy, whom has fought so hard and so strong. It will be a new begining for his little boy.

It's been a long and arduous journey for all of us, but it's strange that thinking of about it, brings a smile to my heart instead. Looking at him and his siblings now (especially Adam cuddling Adel when he gets home from school). I ask myself, could/would I have done it differently? I'll say, "no".

We came through 2nd embolisation!

We came through second embolisation victorious! Phew, what a relief! This time we spent almost 2 weeks (the last time almost 3 weeks) in Paeds ICU, NUH Singapore. Thanks to the staff of PICU! You guys are marvellous! I must say that they are now prepared for our little guy!

Although, I had hoped for it to be done and settled over in December last year, and not wait till Adel's spleen gotten bigger and him more breathless. Well, at least now the doctors know to take me seriously and never to doubt a mother's instinct!

For you guys whom have just stumbled on this blog or just taking a peek, I'll do a quick summary of Adel's medical condition. Adel's Beta-Thal Major, Chronic Lung Disease with pulmonary hypertension. Adel had had multiple heart surgeries at birth which exacerbated his left lung which is congenitally an abnormal left lung. Currently he's on home CPAP and home oxygen also suspected of storage-disease which is causing him to have enlarged spleen and liver (therefore chronic anemia). Gaucher has been ruled out. We may never get to find out what storage disease or even know there is a name to it. Anyway, we're just happy as it is, as long as we get to keep him in our lives.

Ever since his 1st embolisation, he gained 3 kgs, fed on his own, walked and talked like never before. Our target for the next 9 months or so (which was the length of time from his 1st embolisation to his 2nd) is to let him grow another 3 kgs, get out of this CPAP and home oxygen so he can be fit to tackle his Thalasemia or whatever storage disease. God willing, we'll achieve it.

Rare Disease, or what disease?

Suggestion to be a fan of a certain cause/group often pops up on Facebook. Fan of Rare Disease? Should I or should I not be a fan of Rare Disease on Facebook? First things first, how do we classify Adel's illnesses into a particular disease? That's the first question I ask myself..

Adel's been suspected of Gaucher, which the doctors have now ruled out. We have heard it many times that Adel's case is a complex one. A child born with hypothyroidism, congenital heart is a clear indicator of some kind of a genetic defect which calls for detailed investigation. For Adel, throw in beta-thallasemia, and chronic lungs as well to complicate matters. So far, there has been no diagnosed genetic defect (except for beta-thallasemia). We understand the doctors concern that Adel doesn't behave like a typical beta-thal major child and that there must be other disease that manifested in hypersplenicism or chronic lungs. He has hepatosplenomegaly, he's got serious lung issues, he's got left vocal cords palsy, hypotonia, he's akin to a child whom has lysosomal storage disease, or he's probably just a pseudo Gaucher?

We are all perplex as to why he reacts the way he does and we want to know why.

Here's the catch, there are about 40,000 genes in each person and out of which scientists have only understood or unfolded about a quarter. In order to check each and every one gene, we're banging our heads into realm of impossibility at this part of the world. Here's another catch, even if you have found the actual genetic defect, is there a treatment for that? We have been told, it's only advisable to test on those defects which there are treatment for. It sucks, to know that we may never know why Adel has to go through all that he's going through. It breaks my heart when I heard it, as I may never know what disease we are up against or how best to treat it. We just treat it when he needs it..what they call asymtomatic treatment.

I was trying hard to fight back my tears in that particular session with the geneticist, didn't want to let the matter rest at "asymtomatic treatment", there must be something else science could offer? Yes, stem cell transplant. Guess what? Adel is a lousy candidate, with congenital heart and chronic lung, it's suicidale. That was 2 months ago and it took me a couple of hours to swallow that and let it go..

There's no answer and there may never be one, but if there's life there's hope, let's just hope and pray that Adel will wean off his oxygen and CPAP and he gets stronger everyday for him to be fit and be a good candidate for a bone marrow transplant assuming that one of his siblings is a perfect match.

I suppose Adel's is a case of rare and unknown disease? I still don't like the sound of it...

Finally, I got my slideshow up!

To display the slideshow on the blog, I was clear that I had to either upload the slideshow to Flickr or Youtube. I chose Flickr and signed up an account with them. Uploaded the slideshow there (which took ages) and stayed up all night trying to figure why the blog won't load the slideshow. When I browsed Youtube, I realised that with gmail account, I can automatically log-in to Youtube and upload videos. That solved my problem and as you can see, the slideshow is up!

So guys, moral of the story, buy American not Canadian.

Sorry guys, I'm trying to upload a slideshow that I had just made for Adel, still experimenting.. can't load!!

Important milestones by the end of first year

When I read Carrie's blog on Hannah on Hannah's global development delays at 12 months, I ran through Adel's development with Carrie's checklist and the following is what I'm pleasantly surprised to say about Adel:

Social & Emotional

1. Shy or anxious with strangers- yes
2. Cries when mother or father leaves- yes
3. Enjoys imitating poeple in his play- yes, yes, yes (he imitates us syringing, cleaning up spills, Nayli's funny faces, funny gestures he sees on TV etc.. and the list goes on)
4. Show specific preferences for certain things people and toys- yes
5. Test parental responses to his actions during feedings- yes (he hides his face in a cute way behind his high chair when he doesn't want anymore, puts his feet into his food, when he gets reprimanded by Ayah, cheekily pulls his foot out)
6.Tests parental responses to his behaviour - yes (he switches TV on & off, turns up DVD volumne, when he gets reprimanded, turn it down, in a split second continues turning volumne up again)
7. May be fearful in some situations- yes
8. Repeats sounds or gesture for attention - yes (although he's left vocal cord palsy, he does repeats basic sounds, as for gesture..in many ways, we understand his unique sign language)
9. Finger feeds himself -yes (he prefers to do so himself, but very wary of non-liquidified food)
10. Extends arm or leg to help being dressed- yes (he even tries to put his nappy on himself!)

Cognitive

1. Explores objects in many different ways (shaking, banging, throwing, dropping) - yes to all
2. Finds hidden objects easily- yes, he's got sharp eyes
3. Looks at correct picture when the image is named- yes (he knows all his princesses like the back of his hand)
4. Imitates gestures - yes (imitates funny mannerisms from TV, like Mr. Bean's silly expressions, dances with Hi5)
5. Begins to use objects correctly, drinking from cup, brushing hair, dialing phone, listening to receiver)- yes

Language

1. Pays increasing attention to speech - yes (but limited due to his left vocal cord palsy)
2. Responds to simple verbal requests- yes
3. Uses simple gestures, such as shaking head for "no"- yes (Adel's more varied in gestures, he's got his own way of compensating to his limited vocal capacity)
4. Babbles with inflection (changes in tone) - yes (very softly though)
5. Says "dada" and "mama" - yes ("mama" and "ayah" can be heard very clearly, now he calls out to his caregiver "aimah")
6. Uses exclamations, such as "On-oh" - er..(he opens his eyes wide and his expressions says "oops") should be counted as a "yes"?
7. Tries to imitate words- yes (he says "ha-ha" when he wants to listen to his favourie "ketchup song hey-hah")

Movement

1. Reaches sitting position without assistance -yes (recently only)
2. Crawls forward on belly- yes
3. Creeps on hands and knees- yes
4. Gets from sitting to crawling or prone (lying on stomach) position- yes
5. Pulls up to stand- yes
6. Walks holding on to furniture- yes
7. Stands momentarily without support- yes
8. May walk two or three steps without support - yes, more like one or two step

Hand and Finger skills

1. Uses pincer grasp- yes
2. Bangs 2 objects together-yes
3. Puts objects into container - yes
4. Takes objects our of container- yes
5. Lets objects go voluntarily- yes
6. Pokes with index finger- yes
7. Tries to imitate scribbling- yes

Aside from being adverse to solid food, having limited vocal cord capability and being physically much smaller than children his age, Adel passed all the above with flying colours.
You know something? After having had 4 kids, I just realised that I'd before Adel, taken all the above development for granted.
With Adel, there's really no expectations at all , which explained why I'd never bothered to go through the checklist on his health booklet. He can take all the time in the world to learn to walk on his own and talk, I know he can and will in time to come.