"Know that although in the eternal scheme of things you are small, you are also unique and irreplaceable, as are all your fellow humans everywhere in the world. "

Anon

3rd February 2008

Well it's definitely been a while since I've done an update to the site (famous last words). I want to apologies for this, so for all the new people who have visited the site and definitively the ones who come back time and time again; I want to say a BIG SORRY to you all.

There has been good reason for this. In some of my old posts I mentioned that Sue and I were looking to start a charitable trust to help other individuals/children and their parents affected with Majewski Osteodysplastic Primordial Dwarfism. Well on the 15th January 2008, the trust became official. It's been a long hard slog but it's been worth it! But this is just the beginning, there so much to do and only a couple of months to try and complete of our first charitable act. We are trying to raise in the region of £12,000.00 to take 6 families to Detroit in June to attend the Little People Of America Convention to meet the American individuals affected by Primordial Dwarfism and their families. Also they will be able to meet the same Doctors that we met last year!

This is going to prove so beneficial for the english families, they will be able to see for themselves that even though there are going to many hurdles their children and themselves as parents are going to face throughout their child's life span. They will also see how positive their lives can be, especially when they meet all the dynamic individuals affected by MOPDII. They will get answers to some of the questions that their own doctors have not been able to answer. Anyway, the charitable trust is called the "Walking With Giants Foundation" and the web site is "www.walkingwithgiants.org", please visit it, spread the word and if you want to support the foundation, please do in any way you can!!.

Right, just one more thing that is very important before I give an update on Alex. Over the next couple of months, I will be changing alex's web site and also his web address. Firstly his web address is going to change to www.alex-connerty.co.uk, I will keep everyone updated when this going happening.

The reason for this is so there is no confusion to people that want to donate to the foundation. I will be removing Alex's on-line donation button and also advertise the foundation. People still do raise money for Alex but we have been asking them to consider the foundation. I know some people's thinking to charities, most money donated goes on admin fees and salaries. Well I can promise you that the Charity is totally run voluntarily by Sue who is the chairperson, and 5 other trustees that live in the same area a us, along with myself.

The trustees range from a Systems Analysts for a major banking firm, 2 family development officers who work for our local council, a professional photographer and and a final year nursing student. I will be on the committee along with a business man who has vast amount of professional experience with event organising and fundraising; we will appoint other people as regional coordinators as and when necessary. The other thing is that it is being totally run from our home, so costs will be eliminated. Sue and I have bore all the start up costs and will try to finance the charity until we have a sponsor to help with it's running costs. We do need some help with obtaining some equipment to help with some of our aims. So if there is any generous business people or senior company officials viewing this update and would like to help us please do get in touch with us via our contact page or visit the foundations web site!

Some of the things that we need are:

Medium sized colour laser printer
Medium sized colour photocopier
Dedicate fax and telephone line
Stationery
and help with running costs for the above

The above will help us create educational material (parents and public) and all the begging letters we can type and will allow us to have a dedicated telephone/fax facilities when arranging the like of family support meetings, fundraising events and for other families to contact us instead of having an engaged tone due to our home number constantly being in use, plus it will stop Jess answering the phone and shouting mum it's for you!! More importantly it will help keep cost to a minimal instead of getting things done by expensive printers and suppliers and increasing Lexmarks's profits with the amount of ink we are using in our zx printer.

Now for something so so important. A German Genetist has reported that she has found the gene responsible for causing a couple of the sub-types of Primordial Dwarfism. This is wonderful as it's the first steps to looking into the condition more closely. There are some issues with the information in the report as from our point of view and many of the families across the world, some of the information in the excerpt seem to be confusing in respect to the different forms of PD, I have sent her an email flagging up our queries, at present we are still waiting a reply.

There is more in respect to the above which excites us more than the cause of the condition, this research had contributions from 6 English Doctors - This means that there are 6 more individuals affected by the condition. I have been in touch with one of the doctors, to explain that the foundation is looking to create a medical advisory board and more importantly could he pass our details on to the other families (via the other doctors involved in the research).

Anyway, enough about this, this is Alex's site and know some things about the little man! He's getting to be the biggest pain in the backside and I would never ever change this for anything!!!! He is the most pleasant child a father could have but believe he his a handful! He is so so independent and as he gets older his energy levels have increased.

I will give you an update on the areas of his development in the following format from now on:

Walking

His walking is coming on a treat, still can't stop himself from falling which results in a cut lip every now and again or a bashed nose and a chipped tooth. He is still unable to get up from a sitting position from himself. I have been trying to build up his muscle tone in in arms by helping walk on his hands using the wheel barrow technique and also using a pull up bar. It's hard work but it will be worth in it in the end.

Talking

Still not a lot of words but he's making more noises than ever. For us as parents, we have great conversations with him; and he and we know what each other is saying. We use Makaton, but Alex is not interested most of the time and when he gets frustrated with the amount of times we sit him down to learn it; he just raises a fist at us and shouts at us. So everything is working in his understanding department.

Eating

Hey this where there has been major improvements with a twist. In the past Alex would not even contemplate allowing anything near his lips without him baulking, he would try semi soft things like youghurt and custard. Now he's loves chocolate (who doesn't), he will bite and suck on it, he loves bananas, quavers and carrots, in fact his favourite food is trifle!!. The downside is he's not swallowing much of it but to think he's putting things near his mouth is a big big development. We sit and let him play with food and it seems to have worked, Before you know it he'll be eating roast dinners (albeit on the small side).

While we're on the subject of eating, we cannot forget out teeth and cleaning them. he has all his teeth apart from two on the bottom at the back. His lower set are about fives smaller that the top set and some of them are misshaped. This is relevant in a lot of the children with MOPDII. He has a condition called micrognathia. This means his lower jaw is smaller and set back and in Alex's case cases his teeth to be misaligned. Its also causes the problem with eating and because of his size his airways are limited even further.

In respect to cleaning his teeth, this is a constant battle, in a nutshell he hates it, he locks his jaw when we even try to go near him with toothpaste. Lets face it - if it's taken him three years to get some lovely tasting food near his mouth, he's not going to open up and say I love the taste and feeling of toothpaste - give me more daddy! We've got to keep trying though, due to the associated dental problems individuals with MOPDII have. Already the enamel on one of his front teeth are is eroding and starting to discolour.

Height

Alex has gained another couple of cm's and looks rather tall, we think he's going to be one of the average sized MOPDII children, he knows he gained this height increase because he loves to peer through the glass in our downstairs doors. Plus he's trying to reach up to the dining room table.

Well in all - he's coming along fine, slowly but surely albeit he's seems as he's coming down with a cold at the moment. Still got us up the wall, he's got so much energy it's hard to believe this little fella has total wiped out a family of four (mum, dad, brother and sister) along with his nan and granddad!!

I'm going to leave it at this for the moment and I do apologise for not writing more often but all our time over the last nine months have been spent on creating the Foundation. We've had to educate ourselves in all aspects of Charitable Law, been many meetings and trying to generate enough interest to get us going and belive me their are some surpises coming along, well for a newly found small charity.

My next post will detail some more about the charity, the meetings with some of the families and more about our little fella.

John (Alex's Dad).