April 2006Today we went to see the Metabolic Specialists.
We stopped off for some retail therapy first....well window shopping mostly at Meadow Hall...pretty dresses were on Eve's list...deffinitely ONLY LOOKING.....who pays £51 for a pretty cotton summer dress for a 5 year old? We did however find some nice trousers and tops for Rose at £3 a piece so she got 2 of each! The dresses in the same shop were very pretty and very reasonably priced but sadly had buttons down the back which rules them out for Eve.
We had a cup of coffee and headed out to the car and some fresh air. The sun was shining and it was a pleasant drive across the City to the Children's Hospital....Our God is indeed the God of parking spaces....remembering Catherines text from December I prayed as we approached the hospital and a car pulled out as we pulled in....Perfect Thanks Lord!
We were too early yet so headed to the Canteen for some lunch. The food is good at Shefield Children's hospital but is Very overpriced. We were ready for food though so had a meal each and a drink. Eve kept trying to nod off to sleep....her Sats were dropping down and alarming and the noise of the canteen was too much for her and so she jerked awake every few minutes. We decided that even though we were Very early we would head to the clinic in the hopes of some quiet for her to sleep before her appointment.
We arrived before the staff....just a receptionist clearing away the Debris from the Morning clinic. We appologised for being early and she told us to come in and relax.....it was lovely and cool and quiet and we did just flop!
We were still the only people in the waiting room when the staff arrived....the nurse came and weighed and measured Eve and then the Consultant came and said he was going to take a risk and see us first as he had no way of Knowing if his 2 pm appointment would arrive...so we went in 55 minutes before our time....Fantastic!
we were with them for an hour and 20 minutes.....there was a busier waiting room when we emerged!
September 2006
The appointment was difficult! No we are not imagining things. Yes there are many more ticks in boxes that confirm a Mitochondrial Cytopathy/Myopathy.
The Heart and Breathing issues are most likey due to Brain Stem Mitochondrial defficiency.
There is not really much to offer in way of treatment....sometimes...maybe 1 in 20-30 patients a drug trial helps! There are several drugs to trial and it is a trial and error test.
We have a drug to trial!
Christmas 2007
There were some other things I cant actually remember it all. Her reflexes were almost non existant.
We dont know if that is significant!
Her eyes in sleep were in totally different directions.
Her Eyelids are drooping more.
There is just blatant evidence of regression.
The history of losing skills with illness and not regaining everything lost is typical Mitochondrial behaviour.
Our heads have been pulled out the sand...we cant hide from this anymore.
Not sure how our coping skills will hold up....
Christmas 2007
We are awating now a respiratory referal,
A repeat MRI,
Some further results still outstanding from Neurology,
DNA testing.
Probably stuff I have forgotten too.
Tomorrow we are glad not to have either an Education review nor a court hearing....both of which had been previously scheduled for tomorrow. Both Postponed for different reasons.
I do not know what the future holds but I am glad I know who holds the future!
We stopped off for some retail therapy first....well window shopping mostly at Meadow Hall...pretty dresses were on Eve's list...deffinitely ONLY LOOKING.....who pays £51 for a pretty cotton summer dress for a 5 year old? We did however find some nice trousers and tops for Rose at £3 a piece so she got 2 of each! The dresses in the same shop were very pretty and very reasonably priced but sadly had buttons down the back which rules them out for Eve.
We had a cup of coffee and headed out to the car and some fresh air. The sun was shining and it was a pleasant drive across the City to the Children's Hospital....Our God is indeed the God of parking spaces....remembering Catherines text from December I prayed as we approached the hospital and a car pulled out as we pulled in....Perfect Thanks Lord!
We were too early yet so headed to the Canteen for some lunch. The food is good at Shefield Children's hospital but is Very overpriced. We were ready for food though so had a meal each and a drink. Eve kept trying to nod off to sleep....her Sats were dropping down and alarming and the noise of the canteen was too much for her and so she jerked awake every few minutes. We decided that even though we were Very early we would head to the clinic in the hopes of some quiet for her to sleep before her appointment.
We arrived before the staff....just a receptionist clearing away the Debris from the Morning clinic. We appologised for being early and she told us to come in and relax.....it was lovely and cool and quiet and we did just flop!
We were still the only people in the waiting room when the staff arrived....the nurse came and weighed and measured Eve and then the Consultant came and said he was going to take a risk and see us first as he had no way of Knowing if his 2 pm appointment would arrive...so we went in 55 minutes before our time....Fantastic!
we were with them for an hour and 20 minutes.....there was a busier waiting room when we emerged!
September 2006The appointment was difficult! No we are not imagining things. Yes there are many more ticks in boxes that confirm a Mitochondrial Cytopathy/Myopathy.
The Heart and Breathing issues are most likey due to Brain Stem Mitochondrial defficiency.
There is not really much to offer in way of treatment....sometimes...maybe 1 in 20-30 patients a drug trial helps! There are several drugs to trial and it is a trial and error test.
We have a drug to trial!
Christmas 2007There were some other things I cant actually remember it all. Her reflexes were almost non existant.
We dont know if that is significant!
Her eyes in sleep were in totally different directions.
Her Eyelids are drooping more.
There is just blatant evidence of regression.
The history of losing skills with illness and not regaining everything lost is typical Mitochondrial behaviour.
Our heads have been pulled out the sand...we cant hide from this anymore.
Not sure how our coping skills will hold up....
Christmas 2007We are awating now a respiratory referal,
A repeat MRI,
Some further results still outstanding from Neurology,
DNA testing.
Probably stuff I have forgotten too.
Tomorrow we are glad not to have either an Education review nor a court hearing....both of which had been previously scheduled for tomorrow. Both Postponed for different reasons.
I do not know what the future holds but I am glad I know who holds the future!
3 comments:
I'm sorry that you aren't imagining things. And glad that you didn't have to prove you weren't imagining things. And sorry about that too, since it means it was obvious.
So I'm pretty muddled; I can only imagine how you're feeling about it all.
I am thankful though both that Eve is fearfully and wonderfully made, and that you have a doctor who is familiar with these things finally.
Tia
Beautiful pictures. My thoughts and prayers will remain with you and your lovely family.
Hi, i came across your blog through a chain of other mommies with special kiddos. Your posts' about your daughter are so touching and quickly brought back memories of my feelings before my daughters diagnosis. Out of curiosity, has she been tested for Rett Syndrome? Many things you mentioned are similar, especially the regression. Excuse me if i have overstepped any bounds, just reaching out from my heart. Sending hugs to you and your sweet family :)
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