Menkes

For someone who never believes in buying 4D or TOTO, I feel like I have hit the one in a million jackpot. Why do I say that? Mathias has been diagnosed with Menkes. What is that you say. Its a copper deficiency in the child which leads to shortened lifespan. He is the No. 2 child here in Singapore to have it. Or should I say the 2nd child as the rest were probably misdiagnosed as Epilepsy or something.

Anyway, the chances of getting it is like 1 out of 100,000. So yes, I have struck jackpot. I cannot get luckier than this. I should probably go buy 4D or TOTO. Who knows, I might strike it big.

A little bit about Menkes. Its a condition where the body cannot produce copper therefore leading to other problems. Like brain degeneration, hypotonia, sagging features, seizures, light copperish hair color, little hair, wiry hair and the likes. They often have a life span of 7mths to 3yrs. There is currently no medicine available here to treat it. They can source for it overseas. Such cases seem to happen more overseas due to our small population.

I suppose to a certain degree I am considered lucky. It was a visiting Doctor from UK that saw him while he was warded for the MRI. She took a look at him and said that she suspected that he might be deficient in copper. I suppose if it wasn't for her, the doctos would still be trying to get more blood from Mathias to test for more stuff. None of the doctors I saw even suspected it.

So they took his blood and tried testing it for copper deficiency. The results were this week and we were called down yesterday. After hearing the doctors, I was a little unsure of how to proceed. Whether I should let him take the medicine if they can get it in or should I just let him live out the remainder of his life in relative peace and comfort. The medicine or supplement can do the most when taken during the first few days of life. At the point Mathias is at, it might not do anything for him.

I wanted to put him on the supplements at first but after much consideration, I have decided not to. Even if he is placed on the supplements, it might help prolonge his life by a little or make him a little stronger. But it will not be able to reverse his brain degeneration. He has already gone from smiling all the time to not smiling at all and crying most of the time. He is also not talking much as compared to previously. I feel that at this point, I just want him to have a happy and comfortable time with us. I do not want to prolong his pain. As the supplements will require injections twice a day, more blood test to see if his body is accepting the copper or rejecting it. No more agitating him. I feel its already a blessing that I have this time with him.

Its a tough decision to make but one I feel is the best for him. I do not know how much time we have but we will spend it well. Going on a holiday with him. Driving up to Malacca. Forgoing our trip to Vietnam. "A" wants to bring him to Hong Kong's Disneyland but I felt that should wait awhile as he might not be able to take the journey yet as its pretty far.

As I was saying, there is another case of Menkes in Singapore. The baby is now 6mths old. They found out about it earlier as the baby had frequent bouts of fits. I am lucky in that sense although I do not know if it will start up too for Mathias. I suppose if the visiting doctor was not around, we might not even know that its this condition and to check for it. Sigh, God is good la right. At least there will be closure for us. We can do all the things we want with baby before its too late. Will be taking family photos together too. I want his portriat in my room so as to always remember him.

I will continue to be strong for baby and learn to accept what God has given us. Its difficult but we will walk through it and become even stronger. Chin up "A".

We will also be doing the genetic test to see if I am a carrier and passed it to baby or its just a random thing that happened. Will decide from there what steps to take for our next child. Will elaborate on that another day.