An Update..Three Months' Worth Of Stories

 It has been a little over three months since my last post (sorry).  The last three months have been busy, tiring, funny, not-so-funny, sleepy, sometimes lonely, and always entertaining. 

In November and part of December, Chris was away with work and Miya and I found ourselves on our own. During this time, Miya had an audiology appointment in London so we bravely took the train to London all by ourselves (with horrible colds) only to discover it was a wasted trip - Miya's ears were too full of congestion to properly conduct the hearing test.  It has been rescheduled for March. 

In October, Miya was discharged from BMT and back to our regular Metabolic team.  Yesterday, we had our first Metabolic clinic since being discharged!!!  I have to gloat a little, so be prepared for some proper boasting. (Let's be honest, shall we? If I don't, who will?)

Miya's height and weight are good, at 15kg (33lbs) and 95cm (37.4in ).  Her hair is growing back nicely and she only has a small amount of her "monkey fuzz" left on her back, a reminder of the Ciclosporin days.  We talked about Miya's cognitive skills and have determined that she is achieving normal to above-normal cognitive abilities.  Her skeleton was found to be "better than expected" for this stage in her life and although Hurler's is the most severe of the MPS 1 family, at this time, she is prooving to be at the milder end of the spectrum within Hurler's.  Miya's enzyme level is normal for a post-transplant Hurler's patient, but lower than normal for an unaffected individual.  The GAG levels in her urine are still slightly elevated, but we were assured this is normal (they can take some time to come down) and no one is overly concerned about this.  We will provide the Metabolic team with a urine sample in March and her GAGs will be tested then, as well as her enzyme level via a blood test.

She is not without issue, unfortunately.  She has developed mild knock knees and toe walking (both common in Hurler's kids).  She will have some x-rays taken, and be evaluated by Physio in March.  A treatment plan for the knock knees and toe walking will follow evaluation.  Miya also requires a dental review which can be done locally at the RUH in Bath. Hurler's kids tend to have weak enamel and the root can degenerate. Cardiology will also be followed locally, with any surgery that might be required to be done at GOSH.  Audiology and Opthamology will continue to be followed at GOSH.

Miya's vocabulary is huge and she knows how to count to 20, can count backwards from 10, and knows her alphabet.  She can tell you what different words begin with by sounding the first letter.  She is developing deduction skills and can quickly use what she learned in one situation to be applied to another entirely different situation.  We are beginning potty training, and she has peed in the toilet twice.  She shows enthusiastic interest, which wanes from time to time so we aren't pushing her.  When she shows interest, we encourage her and when she doesn't, we remind her about using the potty but don't force her.  She doesn't seem to have developed the proper bladder nerves yet, so I'm not expecting a toilet training miracle at this point.  She'll go when she's ready.

For those of you that follow this blog and didn't know, I am nearly 27 weeks pregnant with an unaffected baby sister for Miya.  We had CVS at 12 weeks, which determined I am carrying a girl and she does not have chromosomal abnormalities.  We will be able to find out if she is a carrier (like Chris and me) with a simple blood test after she's  born.  Since this is a normal, uncomplicated pregnancy, we have opted for a home birth.  I had a traumatic experience in the hospital when I had Miya and the thought of birthing another baby in the hospital sends me into a million panic attacks.  Some people have voiced their disapproval over this choice, and I really don't care what other people think.  Our decision to have a perfectly safe home birth in our own environment is not up for debate. Although not common in North America, it is common here and perfectly safe.  If complications arrise, I will be transported to hospital...easy as that.  End of story.

Miya has various appointments at GOSH between now and March and I will update you on those.  And of course, I will update you on the arrive of Miya's sister.