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World rare diseases day!

World rare diseases day!

Hello friends

My story is rare to have multiple people in a family with 22q because usually not everyone gets tested in family’s they don’t get tested because there isn’t a lot of treatment options for those of us who are adults with 22q.

So what happens? What does 22q look like?

22q is a genetic anomaly that is affected on the 22q chromozone along the q arm band.

That’s a missing segment of dna that dna is our body’s instructions.

Think of 22q like a missing puzzle piece you cant’ see the entire picture with out the missing piece.

There seems to be miss information about it being common. It’s because it’s almost as common as down syndrome only you have heard of down syndrome before right? While that’s because you can physicaly see down syndrome and what it looks like on a person.

With 22q some go many years like I did with mild symptoms and no doctors or teachers batted a eye that something was a little different about me from the other kids.

Infact I was placed in advance classes and wondered why I would get so frustrated trying to keep up all the time I would write 3 drafts of an assignment where my peers only had to write one.

I didn’t know then that I had adhd or panic disorders. I also didn’t know that the faiting spells that scared me were hypocalciuma related until I was an adult.

So many things we didn’t know. I did have speech though school I grew up in Toronto Ontario Canada and the school system is set up different then it is here in the usa.

If I knew then that I had 22q I don’t know if I would have struggled as much as I did if there was help and that I just needed modifications instead of being a student that was unorganised and lacked focused.

rare disease day is important for those of us with 22q because we can get awareness about our little known disorder on this day more then any other day. Even more then 22q at the zoo day.

There is so many out there daily trying to actually do the grass roots of getting awareness out there but funding get’s involved and ego’s are in the way and people step on each other to get the hey look at me I know this xyz!! no one focuses on the important issue other then ways they can make a buck or two from the disorder or how they can get their kids funds and dumped in homes instead of being focusd on getting the correct diagonstic codings

.For the right name! Really by now it’s been way over 20 years since Digeorge was first coined and term 22q11.2 deletion syndrome the vast characteristics the commonality of some of the symptoms such as hypocalciuma and speech delays down to heart issues and other learning delays.

There is no real simple way to answer what does 22q look like it dosne’t look like anything sometimes. it is a total body disorder that effects form head to toes and no two people with 22q are affected by it in the same way even with family’s who have multiple people with it such as ours.

Even that pharase was coined by myself and a few of us who were active years ago in the 22q community but shunned because of miss guided ideas they could earn a dollar or two from our illnesses.

there are of course many family’s who have all been tested and only one person has it. There are other family’s who someone was tested but none of the others were. They wonder what if? They are scared of the unknown.

Scared of the 50/50 chance of passing it on and being the reason for their child having 22q.

That’s what 22q looks like fear and confusion lot’s of doctor visits and multiple surgery’s that we don’t always mention or talk about. Bella teeth for example 5 crowns because when she was younger was prescribed kepra for seizures that turned out to be hypocalciuma related.

The boyd’s instruction materials are what our chromozones are for go back to genetics 101 and that’s how we know that any thing anyone has in the family history is amplfied why wouldn’t 22q be as well?

in my family my father has it as does my half siblings.

I showed almost no symptoms other then my ear drumb ruptured and collpased when I was little.

I had seizures and was blue as a baby and a toddler. I out grew most of the issues as I have grown older.

I even have a child who has simular symtopms. they only tested me becausce my 3 half paternal siblings were all tested after they had been tested positive and that was only after all three kids had seizures and turned blue.

I did as well when I was a new born. They tested my father and he tested positive there that 50/50 chance of passing it on. I don’t think 22q is rare I do think it’s common as down syndrome. I don’t think enough people are being tested because of fear of the unknown.

I want to know do you have 22q? were you tested? why or why not?

Below is a blurb about rare disease day and although 22q numbers are out there are not accurate I don’t think it is rare at all. I think there are millions out there like myself who went years and never knew about 22q.

Over 6000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.

Common problems faced

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.

Due to the rarity and diversity of rare diseases, research needs to be international to ensure that experts, researchers and clinicians are connected, that clinical trials are multinational and that patients can benefit from the pooling of resources across borders. Initiatives such as the European Reference Networks (networks of centers of expertise and healthcare providers that facilitate cross-border research and healthcare), the International Rare Disease Research Consortium and the EU Framework Programme for Research and Innovation Horizon 2020 support international, connected research.

How can things change?

Although rare disease patients and their families face many challenges, enormous progress is being made every day.

The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most "recurrent" ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

Rare Disease Day is a great example of how progress continues to be made, with events being held worldwide each year. Beginning in 2008, when events took place in just 18 countries, Rare Disease Day has taken place every year since, with events being held in more than 90 countries in both 2017 and 2018

However, the road ahead is long with much progress to be made. There are over 7,000 different kind’s of rare diseases. 22q11.2 digeorge velocardiofacial syndrome is just one of many. Let’s raise our voices and share our stories.

Knowledge is hope

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