Thursday, 5 February 2009

My Autistic Son - Part 4 - a short, unhealthy life predicted

If you want to read the preceding parts of this story, click on this link.

If you have already read them, you may be interested to learn that I have added a few photos.

Your son may not reach maturity,” Professor Nevin told us. It was 1983 and Colm was 3 years old.

Professor Norman Nevin is Professor Emeritus, Queens University, Belfast and when I met him, he was one of the foremost specialists in genetic disorders in the world. Northern Ireland was an excellent location to study genetic disorders at that time since, due to decades of minimal immigration and thus a near-stagnant gene pool, it had one of the highest incidences of genetic disorder in the world.

For a couple of years after Colm had been discharged from hospital, he was subjected to extensive tests to find out the nature of the condition which continued to cause him to have an extraordinarily large liver and spleen. There were many blood tests and other unpleasant tests such as skin samples removed for skin cultures, bits of liver removed for liver biopsies and (worst of all) bone marrow removed for biopsy. The most likely explanation for his condition, I was informed, was an autosomal recessive (genetic) disorder. In particular, a storage disease was the current favourite.

What is a storage disease? I enquired. It's a condition where the body cannot process all the chemicals from the food it processes. These chemicals are stored somewhere in the body - possibly the skin, internal organs or in the bones. The effect of this, I was further informed, was that the part of the body doing the storage would swell or grow. If Colm was storing chemicals in the bones, for example, his skull would thicken to such an extent that it would crush his brain, eventually leading to death. Lovely!! That would be something to look forward to! If an organ stored the unprocessed chemical, it could swell to bursting point... "But we're learning more about storage diseases all the time," the doctor said, brightly.

Eventually we were invited to a meeting with Professor Nevin. After examining all the available data, he told us that Colm had glycogen storage disease – or at least, this was the most probable diagnosis. There was no treatment for this. Further tests would be carried out and Colm's progress would be closely monitored, but a significantly shortened lifespan and health problems were almost certain. He went on to explain that there was a 25% chance that any future children would also have it.

Not exactly what one would wish to hear.

Especially when it's your firstborn (as it was for Sandra).

This poor quality picture shows Colm with Sandra and half-sister Carla.

Colm was having problems in other departments. His speech development was very poor. When he spoke, his sentences were truncated and his words poorly pronounced. The motor muscles in his hands seemed less effective than they should have been. Actually, he was, to some degree, behind in almost every way. In his second year, Colm's slow progress had been blamed on the illnesses which had blighted the first 13 months of his life. Now in his third year, it had now become obvious that this excuse was no longer viable. We were told, in the terminology of the time, that Colm was mentally handicapped. A place at Segal House Nursery in Belfast – a Mencap service – was available. Would we like him to go there? We would. The only problem – there was no funding for transport to get Colm to the nursery. This was the first time that funding for Colm's care would be an issue. By this time, my business grown to be quite sizeable and I had several members of staff able to cover for me if I was absent. Thus I was able to drive Colm to Segal House (about 5 miles, but inaccessible by public transport) and bring him home again by simply delegating some of my activities to my staff.

My wife Sandra and I also noticed that Colm's interpersonal skills were virtually non-existant. He exhibited very little affection or any other emotion. He didn't smile. He needed much less sleep than normal for a 3 year old toddler. Additionally he excelled in some areas – for example his sense of direction was better than most adults!

I can give an excellent example of Colm's incredible sense of direction - a talent he still has. When Colm was approaching his 4th birthday, we moved house. We were now 6 miles away from the nursery. We had to traverse the city by way of a myriad of side roads and the journey took about 20 minutes. On the 3rd day after we had moved, I got tied up in work and couldn't collect Colm from nursery and delegated this task to Adam, a member of my staff who had helped out in this way before. Shortly after he had picked up Colm, he realised that he didn't know my new address or new home phone number. What was he to do? He pulled over to stop, but Colm got agitated and pointed to a road nearby. So, not knowing if it was the correct route or not, he decided to follow Colm's directions. It worked! After only 2 trips from the Nursery to home by a complicated pattern of roads, Colm knew the entire route!

What Sandra and I had noticed, but did not recognise, were some of the classic symptoms of autism. Unfortunately it would be another 12 YEARS before we were informed that we had an autistic son.

Had we known earlier, we and the health professionals could have helped Colm so much more efficiently. Sandra and I could have learned how to provide the best environment for our son while he was at home. It was to take a further 25 YEARS to provide proper care for Colm.

Of course, in 1984, Colm was only expected to live a short life, so why bother to correctly assess his mental health needs?

Now go to Part 5


Kathy said...

Bless his heart :( Thank you for sharing this story. Ya'll are great parents. I think a lot of people would have thought it was just too much trouble and sent him away to live full time with nurses and such. Your love for him shines through in your words. ♥

Robert said...

Thanks for the comment, Kathy. Actually I only know of one girl (age 16 and from a poor background) who has gave up her little son because of his health problems. Everyone else just does whatever is required of them. What I'm really saying is - I don't think that I'm particularly special...

fizzycat said...

Good for Colm, he has proved the doctors wrong. I hope he continues to do so for a long life.
Your cat sounds very beautiful I wonder what such a cross would look like .

Robert said...

Thanks for the comment, fizzycat. Colm's very healthy now and no reason to suspect that things will change (except with the normal problems brought about with the onset of age).

When I get a decent photo of my cats, I'll publish them. I'll let you know when that's about to happen.

rosiero said...

You must have been so brave coping with all that bad news - one thing after another. I am not sure I would have coped as well. I am so pleased Colm proved the doctors wrong. So little was known in those days about autism and Aspergers. I suspect we still have a lot to learn even now.

Robert said...

Dear rosiero, You should know, probably better than a lot of people, that you just cope with whatever sh*t life throws at you. Maternal/paternal instincts (plus, in your case, marital duty) take over and you don't really consider NOT coping, do you?

You're right about the available knowledge in those days. Asperger's syndrome was still not universally accepted and genetics were still in their infancy when Colm was young.

Nechtan said...

Hi Robert,

I'm not sure what you think yourself but from what you have written it sounds like the hospital looked on Colm as more of a fancy for study than as the little boy he was needing help. I might be wrong on that. It just sounds to me that the onus was more on what they could learn rather than what they could do to help. Really tragic. Having something hanging over you like being told your son may not reach maturity must have been something that occupied your every waking moment. I just cannot imagine such a dread.

Although today I'm sure diagnosis would be quicker I still think there is alot of work to be done. My wife' sister fell out with her family for a number of years and only in the last year or so has come back into the fold. Only then also did we all find out her 8 year old daughter is autistic. I think she was about 4 years old when they finally figured it out but she had no physical problems such as Colm had in early life to cause any additional enquiry. It was only when her progress was lacking and things like inability to hold a fork properly started to surface that my sister-in-law started to take her to the hopsital but even then it still took a long time for them finally arrive at autism.

I'm glad to hear now, from your comment above, that Colm is in very good health.

All the best


Kit Courteney said...

This really is fascinating. You write so well. And the pictures are SO lovely.

Thank you for sharing it.

Robert said...

Nechtan - You're at least partly correct. The house doctor was obviously reading up on Colm's possible condition & each time I saw him, he volunteered new information. More senior doctors seemed to know the basic facts around storage diseases. However, they were rather inaccessible.

Being told that your child was unlikely to live to be an adult was indeed hard to live with. It was like a time bomb with a fuse of unknown length... But equally problematic was the assertion that subsequent children were 25% likely to have the same problems. Should we take the risk & have another? Would we regret it if he/she had the same problems? If we didn't have another, would we regret THAT? Tough choices!

Robert said...

Kit - Thanks for the compliment! I LOVE flattery & don't get nearly enough!

When embarking on the writing of Colm's life, I wasn't sure if anyone would find it very interesting, but I NEEDED to air it. So I appreciate your kind comment.