We are the Stow Family and this is our story. Our lives are blessed by Love, Joy and Hope. Follow our sometimes interesting stories on loving our two boys, exploring parenthood, and celebrating a little extra - two parents, two boys and an extra chromosome!

Saturday, January 15, 2011

'The' link...

I always like to think of myself as a fairly organised and highly inquisitive person. I do well when it comes to gathering information - let's say, I like to be informed, it gives me a sense of control (although I know that much in life is way beyond my control!).


When Malakai was born and we found out that he had Down syndrome, it was something that I knew very little about. I had not even really met any people before with Down syndrome (contrary to every. single. other. person.... who spoke to us in the first few days who all seemed to know someone, or had a neighbour or had a sibling with Down syndrome...)

After the initial shock wore off and I felt that I had truly come to bond with my new little baby, I immediately ordered several books from the internet and went on a mission to learn more about Down syndrome.

Within a couple of months I felt that I knew almost everything that there was to know about Down syndrome... well not everything, but at least everything that was important to Malakai's development and health.

But I didn't know everything. I missed out on ONE BIG THING... I noticed references to Down syndrome and Alzheimers, but I thought that was for when Malakai was older, much older... So, in my natural (and annoying) way of 'taking in only what is neccessary', I kind of skimmed over the subject of Alzheimers, thinking it wasn't relevant right now in our lives.

I was wrong.

It is so relevent, it is scary. I am still kind of struggling to understand it's impact (and I suppose so are the rest of the scientific community...) on Malakai's development, but I do know that it is here - right now.

From what I understand, scientists have discovered one of the genes found to cause Alzheimers on the 21st Chromosome. This gene, called the APP gene, is responsible for manufacturing a protein (called beta-amyloid protein) that, when in too large doses (as is the case with Alzheimers and Down syndrome), causes 'potholes' to form in the 'highways' between brain cells. And when brain cells are not talking to each nicely (because there are potholes everywhere), they tend to die off.

Now, in the general population - this gene becoming 'faulty' and overproducing the bad protein occurs much later in life (hence Alzheimers being primarily a disease of the aged). However, because people with Down syndrome have an additional copy of the 21st chromosome, and hence more of the bad protein, the damaging effects start... well... from birth. This is why the average age of Alzheimers onset in the Down syndrome population is between 25 and 30 years old.

I always believed that Down syndrome was a 'fixed' condition. By that, I mean that I believed our children are born with a fixed amount of cognitive challenges. Of course, we cannot know what these challenges are exactly, as they will differ from child to child - but through early intervention and loads of love and encouragement, our children will be able to achieve almost anything they set their minds to - albeit at a slower pace (and sometimes not even much slower at all).

I've always been soothed by the fact that we are doing everything we can for Malakai and that he's just so incredibly motivated and wants to learn. He is wonderful and beautiful and perfect. I wouldn't change him (or his extra chromosome) for anything.

But I find it distinctly disturbing and completely unnerving that there is this constant, daily, hourly overproduction of a protein that is killing his brain cells. I am devastated at the realisation that Down syndrome is not a fixed, but a progressive condition.  How do I come to this conclusion? Well, this APP gene and it's protein is over-produced in my child. This protein, when overproduced is absolutely known to cause plaques on the brain that slowly rob an individual of their cognitive ability...

So what now?

Well - thankfully, the race to find a cure for Alzheimers is on. Unfortunately, this is not because our beautiful children with Down syndrome are almost guaranteed to develop it - no... rather it is because so many in the general population are in danger of developing this terrible condition, the treatment of which will rise into the hundreds of millions of dollars when the Baby-Boomers hit their 70's and 80's. This is something that that most governments cannot afford... hence the race...

But what now? What about Malakai? What can be done for him and other little ones with Down syndrome... now?!

I know of drug trials that are being done, by a Doctor called George Capone at the Kennedy Krieger Institute in the US, on people with Down syndrome - drugs that will hopefully counteract, or at least slow down, the development of further cognitive delays. So I hold my breath and pray and hope that these drugs are successful. In fact, one of the youngters doing the trial is from a blog that I follow - you can read more about Hannah's bravery here.

1 comment:

Brandie said...

Great information Loren!