The Importance of a Friend

(Guest post by Alisha Marie Peters – Alisha blogs at The Moments That Change Everything)

I am a regular mom in many aspects. The biggest being that I worry about my child constantly. Most who know my daughter would probably think I worry about her health, her well being, her never-ending surgeries, and of course I worry about those things. How could I not? But, those who know her, also know that she is probably one of the strongest, most resilient children to ever grace this planet. So those things don’t threaten my thoughts as much as the looming question of, will she have friends?

I don’t have to tell most of you that survived junior high and high school how vital good friendship really is. In fact, most of us thrived on it in those awkward and relentless years.

A good friend can make you laugh at even the most unlikely of times. They can pick you up when you are down, be a shoulder to cry on and a source of advice when you need it the most. And I worry that my daughter will not have this. Why? Because unbeknownst to her, she has been ostracized already, and not just once or twice. She has already been seen as “different” to some of her peers, and it literally shattered my heart. I worry about the day that it will affect her the same way. It baffles my mind that anyone can see her as anything other than how her parents see her- perfect, beautiful, sweet, loving and endlessly happy. I wouldn’t change anything about her, right down to her missing DNA 😉

But, wonderful friends are everywhere. And thanks to the Chromosome 18 Registry and Research Society, we have been connected with families all over the world who like us, have children as unique as ours.

That is also the beauty of the annual Chromosome 18 conferences, where you get to physically meet these families. Where our daughter can feel at home, and just like any other kid. There’s no judgment or criticism, just accepting and happy, loving friends.

Here are some of the friends we’ve met along the way.

Our family is eternally grateful for the connections we have made through the Registry!

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Recognising Different

(Guest post by Sara Jackson Johnson –  Sara blogs at Sara in Between)

Sara Jackson and her Family

This is my second post which has been brewing for a while, ready to be properly baked right here.

My little affected boy has a wonderful big “typical” brother.  As is often the way for siblings of any kind of non-typical kids, to Jacob, Louis is just his little brother.  In our family as you’ll see from our photo and my earlier blog, it’s a bit easier for him to think that at the moment because Louis does seem just like any other kid (even when he’s not) because the scary medical stuff just kind of melts away in the face of the normal day to day.  Despite this I talk and have always talked openly to both my kids about the fact that Louis has a rare genetic disorder.  That phrase and 18p deletion are drilled into both of their heads and come effortlessly out of their mouths.

Jacob is in his second year of Infant school at a wonderful local place that I’ve now discovered is the first choice for families in the area with children who have special needs.  It also has a very wonderful and truly local mix of cultures, faiths, religions and nationalities.

Both of these factors mean that I’ve been able to watch my son begin to recognise difference and recently, put his own version of labels and explanations on them.  So last year he gave a description as Parsi for his friend, helped by the school’s recognition of all the festivals that occur across faiths throughout the year.  He also began to see his own colour and others around him, helped by the drawing of a self portrait for his peg.  He also mentioned a girl in another class, who I had already clocked as having Down’s Syndrome.  He first described how she had someone to look after her in the playground, then that she wore nappies.  Which made me want to tell him that she also has a genetic disorder, a little like Louis, and that she needed different things to help her be at school just like everyone else.

Now that he’s a year older and still interested, I’ve given him the name for this little girl’s condition to add to his lexicon.  He’s also been talking about two twin boys in the year below that he and his friends chase around the playground daily (don’t worry, I’ve checked, apparently the boys ask them to and nobody tells them off).

He described them as having someone looking after them like the little girl in his year, and when we discussed it, that maybe they also looked a bit like her.  But he also said “I think they’re diabetic mummy”.  I said if he wanted to know more that he should ask their helper, but careful not to have him seem like a nosy or mean kid, I told him to explain that his brother has a genetic disorder too.  He came back without much further information which makes me curious to know why this adult didn’t engage with my curious but clearly sensitive and intelligent boy.  Still, that’s for another post.

The next time I dropped him off in the morning, he pointed out the boys as they were driven in and met by their helpers.  I could see that it was unlikely they had Down’s and for now he’s stopped wanting put them in a box in his head, but he’s drawn to them and waves and shouts their name every morning.

So whether he labels it, knows what it is or even understands it, my big caring boy is drawn to difference, to different kids and has a desire to reach out to them and try to make them smile.  And this makes me know that at least for now, we’re doing something very right indeed.

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I Have a Dream

(This post contributed by Camilla Downs – Camilla blogs at CamillaDowns.com)

“Whatever you dream you can do, begin it.  Boldness has genius, power and magic in it. Begin it now.” – Goethe

I have a dream of  a world where amazing people like my daughter Lillian Darnell, people who have intellectual disabilities, genetic differences, chromosome abnormalities, and the like are NOT pigeonholed into jobs performing mundane tasks that don’t reveal and let shine their uniqueness.  Jobs that do not give them the opportunity to share their unique and different view of the world.

I have a dream of a world where those closest to these magnificent people and those who are entrusted to educate them shift their paradigm.  A world in which we become aware of NOT what they can’t do or what they are doing wrong or different.  A world where educators don’t attempt to make them fit into a cookie cutter system that is so archaic even “typical” kids don’t fit in.  A world where we open our eyes and discover what they CAN DO, what they are GOOD at doing and what they LIKE to do.  A world where we notice what excites them, what fuels their passions.  A world where WE take the initiative to mentor them to cultivate this, shape and mold it into a way for them to earn a living for themselves and not have to rely on a minimum wage job and an SSI check.  Whether that be working for someone else OR . . . being an entrepreneur.  A world in which we, and they, don’t feel guilty or wrong about using their differences to their advantage in their life.

“Each of us has a Different gift that lies within us.  Some amongst us just need a little extra help in discovering that gift and sharing it for the benefit of the world. ” Camilla

My part in this dream is to do whatever I can to give these awesome people and their families the tools, information and resources to further their dream and mine. To continue and further my efforts with Turning Views Foundation to be a nonprofit that truly helps to mentor and guide these amazing individuals in discovering their talents and gifts, reach goals and to have a career doing what they love to do OR become an entrepreneur and do what they love!  The Foundation wants to do everything it can to give them a voice in their own future.

Do you feel strongly about this dream?  Want to learn how you can help further this dream? Want to be a part of the Different iz Good Movement? Visit Here! Thanks y’all for your support and encouragement! With your help Turning Views Foundation will make the lives of others better, empower others to do things they never dreamed they would do and will give a voice to those without one!

I have a dream . . . what’s your dream?  Please share your dream with us!

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Musings

I’ve been thinking about what my first post for this site should be and have thunk my way right here.

I’m Sara, mum to two wonderful boys, my youngest having 18p deletion, a rare genetic disorder.  Where my little man and some of his other 18p buddies differ, is that (at the moment at least) he sneaks under the radar.  He walks, he talks, he looks like everyone else…so really he doesn’t seem to be different at all and he doesn’t have many of the negative effects that looking and sounding different can bring to a person.

Sara Jackson and her Family

What I have found out though, is that when you have a child who has a diagnosis, but on the surface seems to be the same as everyone else, the negative connotations about being different are still there, and still applied to him, but in a well meaning and topsy turvey way.

I’ve lost count of the people who’ve said “but he looks just like everyone else” or “you would never know there’s anything wrong” or “they met him and didn’t even know there was anything different”.

It’s always said in a way that I absolutely know is meant to make me feel good and I have realised it’s a very complex thing as to why it doesn’t have the desired effect.  What makes me feel worse about my under the skin horror of these comments is that it’s often said by people I trust and love – people who teach him, know him, love him, love me…and it’s quite complicated why it bothers me.  So if you don’t mind, I’m trying to work it out as I type.

Firstly I think I bristle out of loyalty to everyone out there who isn’t the same as everyone else.  Because saying to me that my child is the same, to try to make me feel good, feels like a huge betrayal to all of them if I take it as it’s meant, as a compliment.

Secondly because it makes the assumption that it would affect me in any negative way if he wasn’t quite this lucky and typical.  Because that undermines the fierce love that I have for him, and would have in equal measure if he was blind, deaf, dysmorphic in his features, in a wheelchair, unintelligable in his speech and so on…

Thirdly it also undermines the things that go on behind the scenes of his “normal”.  Behind the curly hair and podgy cheeks and the sparkly eyes and magic smile and the seemingly uber-coping Mummy.  The immune system that can take us by surprise, the concentrated learning that is endemic in our daily routine, carried out as subterfuge to all involved.  The physio that also slips into that routine, the constant checkups, the worry about all the things that his magic genetic makeup can and will bring to us and the fear of everything I know.

Fourthly because if I allow myself, or anyone else to deny that he is different, rather than empower them through him to respond effectively to “different”, I am not doing what I was put here to do.  And I won’t be doing myself or him, or indeed them any favours at all.

Me and my boy are who and how we are for a reason.  I have always told him and anyone else who’ll listen that he isn’t the same as everyone else, but woe betide anyone who treats him as if he is.   Like it or not, our society is full of cruelty behind all the quiet good intentions of the good people who float within it.  People are squeamish about disability, about things they don’t understand and indeed fear in the depth of their souls for themselves and their families.

So if my little boy right now can be a poster child for people who need help dipping their toe into the water of tolerance and understanding around disability, then I’ll take that as a clear wonderful mission for us, while he’s still “typical” enough to do it.

But do me  a favour, spread the word for anyone working or living in the London area.  Watch out for pointless platitudes spilling out of your mouth, supposedly to make a parent, or sibling, or grandparent feel better about their affected relation.

Because that recipient might be me

And I might not be feeling as kind as I am now

thanks for listening and see you here soon

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Every Journey Must Have A Beginning

We didn’t find out until Emily was 6 that she might have a genetic disorder. I didn’t think it was possible, when I heard genetic disorder I think of Down Syndrome.  One of my aunts has Down Syndrome and I knew she didn’t have that.  We knew she was delayed and had been since birth and had various medical problems.  You don’t see many full term babies in the NICU for 63 days, on a vent, and had to have CPR in the delivery room.

The first genetic disorder she was tested for was VCFS (Velo-Cardio-Facial syndrome). We learned all we could while the FISH test came back.  Two weeks later we were negative for VCFS.

The developmental pediatrician thought a trip to the Geneticist was need.  He gave Emily a clinical diagnosis of William’s Syndrome during the appointment.  We were so happy to finally have a name for Emily’s collection on symptoms.  He ordered a blood test to confirm.  The blood test came back negative for the Williams Syndrome (she had both genes).  The Geneticist decided to keep the diagnosis until something better came along or more symptoms.  I was happy with William’s Syndrome, it was very well studied and I had a good idea of what we would be facing in the future.  It was about 6 months later and we knew it wasn’t William’s Syndrome and I was concerned about possible medical issues that weren’t explored because we didn’t know what was wrong.  I requested a referral to Primary Children’s in Salt Lake to get a second opinion.  That Dr. ordered a DNA microarray.  The 6 weeks to get the test back was awful because there was a very good chance it would show everything was normal.  The first words out of the geneticist mouth when we got “the call” was “The test did show a small deletion on one of her Chromosomes”.  I then held my breath while thinking please please don’t let it be a bunch of number.  He then went on to explain Emily has 18p- Syndrome and she was missing the top part of the p tip of Chromosome 18 (18p11.32 to be exact).  He went on to explain they don’t know a lot about but there is a website that can give me more information.  This was more heartbreaking to me than the confirmation of a genetic disorder.  My fear came true on that day, Emily has a genetic disorder that is “numbers” and they don’t know a lot about it.

This is my intro blog, so if I get around to posting more everyone will understand why Emily having a “bunch of number” for a genetic condition causes me more heartache then the condition itself.

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