The Lump

There's a lump.

In my right breast.

I'd been having teeth-gritting pain in my right breast and finally (after much urging from Chris) went to the doctor. Because I was mid-cycle, she asked me to come back in a couple of weeks for a more accurate examination. I returned yesterday. 

The doctor found a lump in my breast and I've been referred to the Breast Clinic at the Royal United Hospital in Bath. The lump is painful and hard. It doesn't move. The doctor says not to worry. She's right. It's probably nothing. Better to be safe than sorry and all that, but I'm still shitting the bed.

A New BMT Date

I received an email this morning from the BMT team who advised that the BMT has been delayed by two weeks.  The proposed dates were rejected by the donor's centre (for whatever reason) so we will be admitted on the 10th of October, chemo to begin on the 11th and the transplant day to be the 17th of October.

I will be spending my 32nd birthday in the hospital and it is a very real possibility that we will be spending Christmas/New Year in the hospital as well. I have asked about Christmas presents and have been told as long as the things we get her are new and in the original packaging she will be allowed gifts.  The ward make a great effort for families spending the holidays in the hospital. On the bright side, I won't need to cook Christmas dinner or decorate the house!!

The hospital staff have been excellent, and have provided Chris with whatever documentation he needs for work in order to get the time off work.  

I don't mind the two week delay. Miya's so active and awesome right now, I really enjoy spending time at home with her.

Here We Go Again...

On Friday at our regular ERT, the lovely Helen told us that the BMT admission was now scheduled for the 26th of September. "WooHoo!" we thought! THEN we were told that it was our OLD DONOR that was donating. She is now well, been cleared for donation by the Bone Marrow Registry, and is able and willing to donate.

During the last three weeks they have been searching for a donor, and they have only found two 9/10 donors and a Cord Blood donor (who was a 5/6, I think). No 10/10 donor was found. IF something goes "tits up", and the 10/10 donor gets sick AGAIN, there will not be a long delay, and they will slot us in with the cord blood donor. Helen told us that in all her time working as a BMT nurse, this has NEVER happened to her.

That's all (for now), folks!!!!!

Gargoylism

gar·goyle  (gärgoil)

n.

1. A roof spout in the form of a grotesque or fantastic creature projecting from a gutter to carry rainwater clear of the wall.

2. A grotesque ornamental figure or projection.

3. A person of bizarre or grotesque appearance.

gargoylism (n.) - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation

Gargoylism. Go ahead, Google it (or use the search engine of your choice). I'll wait...

You probably came up with around 87,000 hits.  87,000!!

Gargoylism is a term for Hurler's Syndrome (MPS 1H) and is still used today.

This is a Gargoyle:

 And this...

And this...

 

This is Caleb. He has MPS 1H

 This is Chiara. She has MPS 1H

 This is Torie. She has MPS 1H

This is Sophie. She has MPS 1H

This is Cody. She has MPS 1H

This is Jakob. He has MPS1H

  And of course, Miya. She has MPS 1H

Gargoyles? I think not.

I have been trying to think how best to describe the way I feel when I hear that awful term. Gargoylism. Yuk. The feeling I get in my heart is a terrible, sinking feeling. 

I came across what must have been a student's project for school or a biology class of some sort as I was posting videos of Miya on YouTube. (Click here for the link.) This was posted just last year!! Last year!! It brought to my attention that this horrible, degrading, archaic word is still being used today to describe beautiful children like the ones you see above. (By the way, I do have the parents' permission to use these photos, in case you were wondering.) 

It is my hope that when someone searches the term "Gargoylism", maybe they'll come up with this blog post. And click on it. And stay on it long enough to scroll down, and see that these people aren't gargoyles. They're kids. They're people. One of them is MY kid!!I admit, this once was a term used to describe MPS 1...

BEFORE THERE WAS A NAME FOR IT!!!

If you're reading this for a school project, or for research purposes, or whatever, please, please, please think twice before using this horrible, derogatory word in your essay or paper or presentation. These are people! They have families and friends who love them very much. They are loving and love to be loved. They are regular people who like to do regular things, and just happen to have a terrible illness. That illness has a name. It is Mucopolysaccharidosis Type 1H also know as Hurler's Syndrome.  Please use the correct term instead. We as parents of children with MPS 1H thank you. Our children thank you.

An iPad 2 For Miya

I do not consider my daughter to have a disability; she is a perfectly able individual. She is right along side her peers in all areas of development. I am, however, not blind to that fact that someday she may need some assistance in some area or another. I want her to be fully prepared and ready to take on anything.

My parents bought Miya an iPad. iPads are wonderful tools for children with and without special needs. The iPad will assist in her cognitive development (unfortunately, until Miya has her bone marrow transplant, mucopolysaccharides continue to build up in her brain), assist with Occupational Therapy, language skills, word and object recognition, as well as her fine motor skills. (People with MPS and related diseases have unique hands. The shape of the hands is very noticeable. They are short and broad with stubby fingers, which can become "clawed". Hands are the symbol of the MPS Society.) Already, Miya has got the hang of many apps, and loves anything to do with "peek-a-boo". She loves apps which allow her to create music and draw with her finger.

We have invested in the Gumdrop Drop Series Military Edition case for this iPad. I think drop protection for this valuable piece of equipment is essential and after viewing this on the blog of another MPS family (see Saving Case) I decided on this particular cover.

Many of you might think that an iPad for a one year old is a little excessive. I might have agreed with you a few weeks ago, before I had the opportunity to see Miya use one and before I did some research. Not only is it a fun tool, it is also an educational tool. It helps ease boredom and provides distraction for sometimes painful medical procedures. 

Miya would like to say a big "THANK YOU!!!" to Nan H and Grampy Green!!! Oh, and I would too.

A Double Lumen Hickman Line For Miya

Miya was admitted to Great Ormond Street Hospital on Sunday, the 24th of July, for the insertion of a Double Lumen Hickman Line on the following morning. This is a central line which links directly to Miya's blood supply. Blood can be taken from it, and medications injected into it.  It will also be used for Miya's weekly enzyme infusions. Venous access has been tricky as of late, and this will make our lives MUCH easier. 

Miya Munching A Banana After Coming Back From Surgery

Miya tolerated the procedure well. She was a little bit cranky after coming back from the recovery room (who wouldn't be). She didn't want anything to drink, but was happy to clutch a banana and shove it into her mouth at regular intervals. 

Miya did so well, she was discharged later the same day! She was difficult to contain in her bed after a couple of hours of being back from recovery, so she crawled up and down the halls of the ward.

It took us nearly two hours to get out of London and a further three once we were finally on the M3 Motorway.  

Miya doesn't seem to realize she has a new addition to her body. She hasn't pulled at it (yet) or even inspected it.  Her dressing was changed yesterday without incident and she also had her first bath with it in (with her chest wrapped in plastic wrap).

Miya And Mummy

 She hasn't really been herself since we came home, but she's no worse than I'd expected her to be. A little cranky from time to time, and a little clingy. She often pulls herself into my lap with a book or her Simba soft toy and sits for a while. It's nice. She's not usually a cuddly child. 

We're off to GOSH on Thursday night for our regular ERT on Friday morning.  I can't wait to see how the Hickman performs!! Looking forward to no canulas, no crying, no having to keep a 12 month old still or else the pressure in the canula sets off the machines.  

Hooray For Miya The Super Trooper!!

Hyper Mobility In Hurler's?? Really??

On Thursday, Miya was evaluated by the lovely Michelle, a Physio Therapist at Great Ormond Street Hospital.  We love going to see Michelle and often pop up to the Physio floor when we don't have physio appointments, just to say hello. 

When Miya was first evaluated back in April, her joints were hyper-mobile. She did, however, have some stiffness in her shoulder joints. This stiffness is common in Hurler patients as they lack the ability to break down mucopolysaccharides (GAGs) and these accumulate in the joints, among other places.  (For some technical terms and links to more information on them, see this post.)  Because, at the time of the first evaluation, she lacked the muscle tone required to control her hyper-mobile joints, she was not yet crawling. The physios were confident that with time and enzyme therapy, she would crawl fairly soon after the evaluation. Within 4-5 weeks, lo and behold, Miya was crawling!!

At this pre-BMT evaluation, Miya's joints are still hyper-mobile and the stiffness in her shoulders was gone!! The enzyme infusion she has been receiving is obviously working very well, and doing its job of breaking down the GAGs. Michelle said that Miya is doing all the age-appropriate things she should be doing, and doing them very well. She had no advice for us or exercises for Miya. She did give us a tip on giving her confidence in walking unassisted, which involves holding onto a rubber ring.  (She currently cruises around, holding onto furniture, people, toys or the dog. Sometimes it seems as if she teleports, getting from one place to another in a blink of an eye.)

Hyper-mobility is not often seen in Hurler children, and is often due to some hereditary component. We can only hope that she won't regress too much during BMT (although some degree of regression is common) and that she will continue to flourish under the ERTs that she is receiving. We also hope that the BMT is successful, and that the marker that creates the enzyme she lacks becomes 100% donor, therefore delivering enzyme to not only her lower body, but also to her brain (a place that the enzyme infusion cannot reach. GAGs continue to build up in Miya's brain, despite receiving weekly enzyme replacement therapy).