Saturday 28 August 2010

Teenagers and Alcohol

This blog post could be a fairly controversial topic matter as I'm sure people and most importantly, parents have some strong views on this but I feel the subject matter is important in today's world.

My daughter is 14 years and that most important half a year. There appears to be a huge issue amongst her friends and acquaintances that alcohol is an important part of enjoying an evening.

This was a huge problem for us late last year when she was found to be drinking on the street and she was grounded. It happened again and she was grounded quite harshly. The third time, a few days in and back out again. Keeping her shut in the house, whilst it maybe stopping her drinking, is probably going to do her more harm than good.

I've had all the discussions around alcohol, sex, inhibitions, older boys and how bad it can all be, but I can see that she really is wrapped up in her friends, and family, parents thoughts and upset don't register on the radar. So this week I took a decision to allow her to have a party in our garden and one where she would be provided with some alcohol.

The trade off for this, was the reason for the party in the first place. She's 14 years and no matter how much I worry about her when she's out and the decisions she is making, she is doing well in school and has taken and passed, quite well, two GCSE's 2 years early. I am so proud of her and I hope this pride is also warranted in her private life when she's out with friends and away from guiding parents that she will make the right decisions.

I would rather my daughter drink sensibly, with food supplied and within reason, in my garden with me here, than out in the streets with no one looking out for her or monitoring her intake. It won't be a regular occurrence, but I think it was needed.

I may now be that little more approachable for future problems now I'm not the "uptight bitch that stops her having fun"

It's so difficult parenting a teenager. I've never worked so hard as a parent as I have since my eldest turned 13 a year and a half ago. Teenagers are so bloody minded, that no matter what you say, they will find a way to do it anyway.

What are other parents thoughts on this common issue of today?

Wednesday 25 August 2010


I find it incredibly difficult to write and post when I'm really stressed about something, which is why it's taken me a couple of days to catch up with this. Strange really, when the whole point of my blogging is having somewhere for me to write things down, put my feelings in a space rather than have them circulating around my head like stagnant water.

It's late (for me) I've been in bed for hours, in fact I went to bed before my son. I was exhausted. The emotional drain is having it's physical impact. I'm sure my husband is thrilled when I take myself off to bed a 6.30pm and leave him alone for the evening. Anyway, I've woken up and come downstairs to make a cup of tea and thought I would try and get down what has happened to get me so worked up again.

I spent all weekend researching Vascular Ehlers Danlos Syndrome (Apparently, vascular is it's preferred name nowadays, rather than type IV) and writing down everything I found, that I felt would be useful in a talk with the genetic counsellor when I called her. I wanted to be informed, know my facts and have some kind of leg to stand on when asking for someone else to look at my son. I also wrote down all the information I could about my son that I thought, again, could be relevant and back up my argument for another assessment.

I found research by the Mayo clinic, in 2007, that stated in only 30% of cases, did patients present with the "typical" look and yet, the Dr seeing my son, completely discounted him on this fact alone, that he didn't "look" as though he had vascular type EDS.

I also found research on the National Centre for Biotechnology Information which is a recognised dot gov site, relating to capillary fragility ~

"Easy bruising is, to a variable degree, present in all subtypes of EDS, and is because of fragility of the capillaries and the perivascular connective tissues. Vascular fragility affecting medium-sized and large arteries and veins is typically observed in the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs."

and yet, my son's capillary fragility had, again, been discarded as not relevant.

As far as my lists and notes in relation to my son, he has easy bruising/capillary fragility, some hypermobility, translucent skin (where you can see his veins through his chest), limb pain in his legs and a lot of tummy pain and nausea.

After making my lists I was adamant I had enough to warrant his being seen again, by someone that knew what they were doing. I was armed and I was a bloody angry worked up parent.

In this worked up state and with my pages of notes in hand, I called the hospital and requested to speak with the genetic counsellor whom had been present. She wasn't in and would return my call the following day. Wasn't it?? I'd got lists!

I spent all of yesterday at work, clock watching, checking my lists and looking at the clock some more, until eventually about 1.30pm she called.

I started by telling her I wasn't happy with how the appointment went last Wednesday, pointing out that the Doctor had asked for her opinion several times and had at one point stated that she, the counsellor, knew more about the topic in hand that she did and this bothered me, because if the Doctor didn't have confidence in her own ability, then how was I to have confidence in her.

I went on to admit I had written notes and apologised if I was stilted as I talked. I discussed all the above and then went on to say that in relation to the Doctor dismissing his fragile capillaries, two other Doctors in my son's short six year life, had put the fragility down to collagen. The consultant paediatrician that had referred him and a dermatologist had mentioned it several years ago.

I don't think I had to try so hard, to have made so many notes, as the counsellor had already spoken with the consultant in the specialist EDS clinic, who was "more than happy to see him" She had spoken about him to the consultant on the simple facts she already knew about him after being informed I had called and wanted to talk with her. Without knowing my concerns, the consultant had enough information from the counsellor to say she would see him in the specialist clinic.

The disorder is little known about and there are only two clinics in the UK that specialise in EDS and are the national clinics. One is in Great Ormond Street Hospital and the other in Sheffield Children's Hospital, and now, finally, my little boy was going to get a proper assessment by people who understand the disorder.

The counsellor was lovely with me. She had listened intently as I rambled and appeared to understand. She said my little man would probably have a biopsy, which is the test for vascular EDS. This scares me as he will be distraught, he hates Doctors and hospitals as I keep taking him since he was a baby, so he gets all quiet and upset when he has to go. I won't tell him he's going back to a hospital until maybe the day before and I certainly won't tell him about the biopsy.

The scary bit about all this is that we now have an appointment for next Wednesday 1st September.

I'm scared again now EDS is back on the table, of the type they will test him for, but so glad I was taken seriously.

So now I'm being stressful me, unfocussed, tired, and trying to get through until Wednesday, where I know I will be talked to, explained to and treated like an anxious mum who deserves to know what decisions are being made and why.

Saturday 21 August 2010

The "Consultation"

It was supposed to be a consultation. There were 45 minutes blocked off for it. We entered the room and met someone I presumed was the geneticist but all I think I heard her say was her name, not who she was in the scheme of things. My nerves had got the better of me and my body was letting me down. I felt so jittery and I don't think my ears were actually functioning when we first went in. Also in the room was the genetic counsellor I met a couple of months ago when she came to the house to get a family history.

There are 6 types of Ehlers Danlos Syndrome and each type has it's own set of problems and symptoms. All in relation to collagen, the connective tissue of our bodies, which makes up 80% of our body. It's not just an external thing, collagen is responsible for keeping together and helping our internal organs function.

The most common two, classical and hypermobility are pretty similar and they both exhibit signs of hyper mobility (flexibility) and skin elasticity.

The Doctor tested my son against the Beighton score for hypermobility. A score of 5 or more, puts him in the hypermobile camp. He scored 3, being hypermobile (bendy) but not in all the right places. The Beighton score is very rigid, in that they bend 9 specific joints and you score a point for each one you bend more than you should. Although he only scored three, he is bendy in other area's but this doesn't count. During these nine bendy tests, the person I presumed was the geneticist asked for the opinion of the counsellor on his bendyness.

She then checked the elasticity of his skin and wasn't sure, so asked the counsellor present for her opinion and then ruled it out as children are "difficult" She even commented to the counsellor ~ you know more about this than me..... (!!!)

She viewed his bruises on his shins and saw the petichiae rash on his torso but appeared to ignore it.

She then went on to tell me that he doesn't have the two more common types of EDS as he didn't pass the Beighton test and he didn't have vascular type as he doesn't have the "look" which is "typical" of vascular type. Along with that "look" (pinched nose, wide eyes, thin lips) there are several other quite significant indicators of Vascular EDS but she had already made her mind up and didn't look for the other symptoms or ask any questions. I'm not sure she was even paying attention when I tried to speak.

I was dumbfounded. She just dismissed us. I tried to fight to be heard, asking if his leaking capillaries were relevant and she said no, that it is just capillary fragility. I asked, "fragile because of the collagen?" all she answered was no.

Here she was dealing with an anxious mother and she didn't reassure, explain or question, she just looked as though she was rushing her way through it and sent us on our way after only fifteen minutes in there.

I was furious, but couldn't voice it, I felt wrong for pushing, as though I want him to have this terrible disorder, but I don't want him to have it, I just don't want him to have it and not be diagnosed with it.

On the way out, the counsellor said I could call her if I had any questions. Questions??!!

The research I have since done and the questions I most definitely will be asking on Monday are for another post....

Wednesday 18 August 2010

Ehlers-Danlos Syndrome

It's been four months since the paediatrician uttered the words Ehlers Danlos Syndrome in relation to my 6 yr old little boy, and since then, I've read and researched what I can. I've seen the genetic counsellor and this afternoon we have our appointment with the geneticist where a diagnosis, I presume, will be final.

Four months of wondering and worrying and looking oddly at my little boy wondering if he looks like an alien! Holding on to that one sentence the counsellor said when she saw a photograph of him and saying that his eyes are quite wide set and gripping onto the worst case scenarios as only we of the human race can. Seeing veins in his chest and wondering if they are visible because of this awful syndrome or just because he is generally the thinnest child that I have ever seen.

He is my world (him and my daughter who is older and not flexible in the slightest) I feel as though I am waiting for a life sentence to be handed to me, in waiting for this professionals, professional medical opinion on my little boy. This person who will verbally hand down a sentence, whatever that may be. I can't settle my mind, I can't concentrate on one thing. A little over an hour before we leave the house and I feel like a highly strung spring about to be released into who knows what.

I know that knowing will be a better state. I will have to deal then, rather than let my imagination loose. I can deal in facts and be able to "do" things, whatever those things are.

Two hours until there's no way out, the diagnosis will stand. Two hours.