#morquio

October is Dwarfism Awareness Month! but I really have dwarf pride. So Im calling it Dwarf Pride Month. I am very happy to be three feet two inches tall, I have a very rare form of Dwarfism called Morquio Syndrome type A, in scientific terms I have Mucopolysaccharides IV A.

WHAT THE HECK IS THAT? Let me tell you...Ok breathe in and out. It is a bit complex and feel free to ask me to explain in more depth.I have an autosomal recessive genetic disorder caused by the deficiency of GALNS enzyme due to mutation in the GALNS gene.Which causes a large accumulation of Keratan Sulfate in my cells and tissues. This Keratan Sulfate caused me to be short in height, hard of hearing (I wear Hearing Aids), cornea cloudy (I wear glasses), ligament laxity (which means my joints aren't stable and I sometimes wear tape or braces to stabilize the joints) and much more.

How did you even become this lucky person to have Morquio Syndrome? I am so glad you asked.Both my parents unknowingly carried an abnormal recessive gene on their chromosomes. Both my Mother and my Father had to be carriers for me to be affected.

BUT Your older and only brother is six feet tall?... How?...That is because my parents had a 25% chance of their child being affected. I was the lucky one.

When did your parents know they were carriers?Not until I was diagnosed. See When I was born I was slender and tall. Absolutely nothing was alarmed about the birth of me. I fell when I was a year old baby and didn't recover on my own. I needed surgery. It wasn't until I was almost two years old the doctors figured out I have Morquio syndrome. My parents didn't see many signs of this disease affecting me until I was about 3-4 years old. I hit all the milestones that a typical baby hits and was a happy active baby. 

How were you diagnosed? I was diagnosis via skeletal x-ray and urine. In the urine they did a glycosaminoglycans analysis. This is where the extra keratan sulfate was noticed. 

How Rare Is Morquio? It affects about 1 in 200,000 births equally in males and females. Not every person with Morquio syndrome manifests the disability the same way. Some have it more on the mild side and some on serve side.  

I see you mention hearing aids earlier but don't you use a wheelchair? Does that mean you can't move your legs? Great question. I can move my legs, I go to physical therapy every week to stabilize my joints and get stronger. I also use a bicycle and sometimes a walker. I love swimming too so don't let my awesome power wheelchair fool you into thinking I can't be active. Just like I wear hearing aids to help me hear better but I still love listening to music. My glasses help me see but I still love looking at art work in museums. I've a service dog to help me in public but that doesn't mean I can't go out in public on my own. Often times my mother is with me but she doesn't speak for me and I am not glued to her body.

So, if any of you have been following my #Vimizim updates for almost the past year, and I realised I’d missed something.  I hadn’t really explained what my condition was, for me anyway.  You see today, I’ve been diagnosed for exactly twenty-one years as having Morquio, my condition, so I thought I’d kill two birds with one stone and explain it here.

So, I’m incredibly small, 3 foot something, under a meter. Which can make me a little self-conscious about my height.  It means that sometimes when I go out, people, usually children or toddlers but not always, will stare at me.  It’s gotten to the point now, where I usually don’t even notice a lot anymore, after all if you’ve gotten used to something it’s hard to notice it when it happens. Although, when I do notice, it’s usually someone staring open mouthed at me.

 If you can imagine, my body is small, but my head is regular sized. Before I developed boobs, it looked like my head was too big for my body.  Same with my ribs, my two lowest ribs on each side stick out, and before my boobs developed if I was wearing something tight or swimmers, it looked my parents weren’t feeding me properly.  Even though, chocolate is my biggest weakness!

At this point, I’ve had five operations, three different halo operations, Morquio makes my neck bones, near the top of my spine, slightly more fragile.  As far as I’m aware, I have had the most halo operations in Europe, but this may be outdated and wrong.  I had a hearing grommets put in when I was about seven, due to my condition my hearing without hearing aids is terrible.  I have also had an operation done to put pins in my knees because my stance when I used to be able to stand was bowlegged.

My wrist bones protrude a bit because of the Morquio.  My hands (and feet) are really floppy.

El síndrome de Morquio es un rasgo autosómico recesivo. Si ambos padres portan el gen defectuoso relacionado con esta afección, cada uno de sus hijos tiene un 25% de probabilidades de padecer la enfermedad.

Existen dos formas del síndrome de Morquio: el tipo A y el tipo B.

Las personas con el tipo A no tienen una sustancia (enzima) llamada galactosamina -6- sulfatasa.

Las personas con el tipo B…

Here are a few websites you can check out to learn more about my disability, morquio.

Carol Ann Foundation~ Im on the board of trustees and this where the medical research gets funded among many other organizations. you can also read stories about different people with Morquio syndrome.

Understanding Dwarfism ~ About understanding many disabilities. I wrote a small piece about Morquio syndrome. 

Morquio Conference~ About gather Morquio families, and medical research. You can read some science papers, researches on this site.

Having a condition that affects you in every which way like Morquio, is not easy.  For the purposes of the this blog post and possibly any future blog posts on Tumblr, I shall call it MPS IVA, which is what I have.  I should really use this opportunity to explain that it means that I have a Mucopolysaccharide disorder (although I don’t like the term disorder), what it means is that in every body you have enzymes that break down nutrients I suppose like protein and move them around the body.  I however am missing one, so it doesn’t move as it should and deposits in the wrong places (for instances my wrists stick out a bit).

Morquio, which is what I have and the particular strain doesn’t completely stop my growth (I used to grow as a child normally albeit slower) but slows it down.  Right now, I think I have stopped growing (as a teenager) I am a metre tall.  I also cannot walk, I haven’t been able to for around four or five years.  My joints would get very sore, for example - the back of my knees, my elbows, my wrists, my neck and even though I am not walking anymore my feet would get sore.  It can also affect my heart, so my internal organs can be affected as well.  I would b more likely to get throat infections, chest infections, eye infections in the Winter time.  I also get really affected by the cold, (I know it doesn’t make much sense that I still live in Northern Ireland), which means that from say mid-October to March/April depending on the weather I would get very cold, very sore, almost depressed and would prefer to spend my Winter in bed (I think I would hibernate if I could).  It also affects my vision in some ways, but I’m not sure how, it also affects my hearing, my hearing is really bad, I use hearing aids in both ears, the ones I’m not entirely sure what you call them but they are digital and have a bit that is tucked behind the ear for me to alter volume turn them on or off.  I also have tinnitus, which really irritates me, it is like a kettle whistle that is going on in my head all the time.  I don’t have a large appetite, I would prefer to eat smaller meals at more frequent times compared to larger meals with less frequency.  Thankfully it does not affect my brain, so my thinking processes, ability to learn are not affected.

About six years ago (around the period of time when I stopped walking), I developed Spinal Myelopathy, which hit me for about six months but extremely bad for one month.  I was told that if I didn’t have an operation I could either be paralysed or die.  This took away all energy, so for the one month that it was extremely bad, I didn’t go into school and could barely think about anything other than sleeping and conserving energy, I had just started my GSCES, so this was scary.  At that moment I had already have two ‘halo’ operations, which is where they put you in a metal crown like thing, usually for three months but for me six months, which at time was the most, until the geneticist here in Northern Ireland could ‘twist’ the consultant over in Manchester to perform a third one on me.  Until he would decide whether or not to do it, I was put on Steroids (not anabolic that you see some professional athletes taking, but medical ones) they gave me a little bit of energy and slowed down the myelopathy.  They also increased my appetite dramatically, I was then able to eat through a single load on my own in a day, Mum had to give lunches of massive piles of toast and peanut butter (I had a massive craving for peanut butter at the time), green grapes and cookie dough ice cream.  Although I had also lost some power going to my hands, so someone had to feed me hot meals, like pizza or chips (I really loved some takeaway and fast food), along with Shepard Pies etc.  When they decided to do the operation that was my third halo operation, at the time the most in the UK, I was over in Manchester, getting over by a medi-plane.  My hands were slightly ‘messed’ up, I couldn’t hold a fork or a knife or a pen for a few weeks but in the grand scheme of things it wasn’t too bad.

We had always been told that there research going on for Enzyme Replacement Therapy which while it wouldn’t cure me outright of Morquio, it would hopefully alleviate symptoms, but these were more like rumours, almost like the rumours around the Friends TV show, are they coming back, what about Rachel and Ross are they or aren’t they?  Before these all the Symptoms, were taken care of on a case-by-case basis.  They also discovered more that didn’t know as a result of doing these trails.

Anyway, I hope this has explained some of Morquio to you, I hope to keep this Tumblr posting running, I will not be mentioning any names but if I am the trail in Manchester and interacting with one nurse for long enough I will maybe establish a different name to post them under on this blog.