I had my first nightmare about Hallie last night. She was sat in her high chair and I thought she was cold because she looked like she was shivering uncontrollably but then I realised she was having a seizure and her face looked really distressed and I couldn't soothe her : (
Still haven't heard from the neurologist regarding the details of Hallie's MRI scan on her brain - I'm eager to know exactly where the stains lie on her brain and what the next steps are for treatment etc. we have an appointment on 15 November to discuss the brain scan but I had actually requested that the consultant phone me before then - he's obviously too busy as I've left him three messages! Hmm might phone again today and leave another message for him..
We've got Hallie's eye appointment on 1 November so hopefully that won't be too traumatic for her and her eyes won't have worsened.
X
Thursday, 25 October 2012
Tuesday, 16 October 2012
Sturge Weber Syndrome
I thought I'd try and write a post to say a bit more about Hallie's diagnosis (if my two mischievous sons will allow me!)
Last week Hallie was diagnosed with Sturge Weber Syndrome (SWS) - this was not a complete shock as we had been forewarned the week Hallie was born by the neonatal consultant who came to visit me at my bedside. He had written it down on a piece of paper and told me briefly a list of possible complications Hallie may have if she did have SWS.
For those of you that read my blog because you want to know more about SWS - here comes a detailed explanation taken from various resources (including my head)!
Sturge Weber Syndrome occurs in the first weeks of an embryo's life. It is an abnormality of the central nervous system (I think) and is not hereditary.
Symptoms of SWS include:-
An appointment has been pencilled in for Hallie to be seen at the specialist SWS clinic at Great Ormond Street in December. We will hopefully get a chance to chat to Dr Aylett, the specialist who is very knowledgeable with the syndrome.
Hallie is also pencilled in for her first laser treatment in January at Leeds. I haven't changed this as a few parents on the Sturge Weber Facebook Support Group have reassured me that Hallie would be treated in a children's ward which made me a little happier.
I have found it invaluable having the SWS support group on Facebook and am so thankful for modern technology - I would feel so alone and helpless without the internet and Facebook and the numerous people I have become connected to via support groups. The same can be said for the autism support groups I am connected to on Facebook too (that's another story though!) Contacting the consultants is so quick and easy and I can get in touch with a few of them via email and get reassuring replies a few hours later. All this support and information helps keep me calm and collected which allows me to continue fighting for Hallie's referrals and appointments etc.
I still haven't seen the neurologist regarding the results of Hallie's MRI brain scan. He has been away. I am hoping to contact him this week and ask where on the brain Hallie has the angiomas. I am guessing it isn't extensive otherwise her behaviour wouldn't be as it is - but I don't know how it all works. I am under the impression the parts of the brain where the angioma touches are the only parts that are affected when the child is having an epileptic seizure - which is why sometimes a child can carry on playing normally whilst having a seizure... this worries me and makes me anxious I will miss a seizure or not notice her first one straightaway (if she has any at all that is) The symptoms above do not all occur in every child with SWS.
Most symptoms occur in the first year of life.
Epilepsy:
approximately 80% of people with SWS have epilepsy - in most cases the epilepsy starts in the first two years of life and if by age 5 Hallie has not had a seizure she isn't likely to.
I am to watch out for twitching or jerking of the limbs on one side of the body, or jerking involving all limbs with loss of awareness. Absence seizures (where child appears "not there"), drop seizures where the child will drop to the floor and episodes of limbs becoming stiff.
The seizures I am worried about are the subtle ones where the child may just have a change of breathing or just a slight twitch of the hand or foot for example.
{I have taken a lot of this information from a booklet on SWS written by Dr Sarah Aylett from GOSH}
PLEASE SEE www.sturgeweber.org.uk FOR MORE INFORMATION ON SWS AND HOW TO SUPPORT THE CHARITY.
Last week Hallie was diagnosed with Sturge Weber Syndrome (SWS) - this was not a complete shock as we had been forewarned the week Hallie was born by the neonatal consultant who came to visit me at my bedside. He had written it down on a piece of paper and told me briefly a list of possible complications Hallie may have if she did have SWS.
For those of you that read my blog because you want to know more about SWS - here comes a detailed explanation taken from various resources (including my head)!
Sturge Weber Syndrome occurs in the first weeks of an embryo's life. It is an abnormality of the central nervous system (I think) and is not hereditary.
Symptoms of SWS include:-
- A Port Wine Stain of the skin (usually around the eye and forehead area as this is near the trigeminal nerve which is connected to brain activity).
- A layer of blood vessels touching the surface of the brain called an angioma (these blood vessels can irritate the brain causing seizures).
- Glaucoma - raised pressure in the eyes caused by increased level of blood vessels in the back of the eye.
- Developmental delays and learning difficulties - this is more likely to occur when a child with SWS has the epileptic seizures. When the blood vessels on the brain (angioma) are on both sides of the brain this is more likely to cause severe learning disability.
- Sometimes the child will have weakness of limbs on the opposite side to that which is affected by the angioma on the brain.
An appointment has been pencilled in for Hallie to be seen at the specialist SWS clinic at Great Ormond Street in December. We will hopefully get a chance to chat to Dr Aylett, the specialist who is very knowledgeable with the syndrome.
Hallie is also pencilled in for her first laser treatment in January at Leeds. I haven't changed this as a few parents on the Sturge Weber Facebook Support Group have reassured me that Hallie would be treated in a children's ward which made me a little happier.
I have found it invaluable having the SWS support group on Facebook and am so thankful for modern technology - I would feel so alone and helpless without the internet and Facebook and the numerous people I have become connected to via support groups. The same can be said for the autism support groups I am connected to on Facebook too (that's another story though!) Contacting the consultants is so quick and easy and I can get in touch with a few of them via email and get reassuring replies a few hours later. All this support and information helps keep me calm and collected which allows me to continue fighting for Hallie's referrals and appointments etc.
I still haven't seen the neurologist regarding the results of Hallie's MRI brain scan. He has been away. I am hoping to contact him this week and ask where on the brain Hallie has the angiomas. I am guessing it isn't extensive otherwise her behaviour wouldn't be as it is - but I don't know how it all works. I am under the impression the parts of the brain where the angioma touches are the only parts that are affected when the child is having an epileptic seizure - which is why sometimes a child can carry on playing normally whilst having a seizure... this worries me and makes me anxious I will miss a seizure or not notice her first one straightaway (if she has any at all that is) The symptoms above do not all occur in every child with SWS.
Most symptoms occur in the first year of life.
Epilepsy:
approximately 80% of people with SWS have epilepsy - in most cases the epilepsy starts in the first two years of life and if by age 5 Hallie has not had a seizure she isn't likely to.
I am to watch out for twitching or jerking of the limbs on one side of the body, or jerking involving all limbs with loss of awareness. Absence seizures (where child appears "not there"), drop seizures where the child will drop to the floor and episodes of limbs becoming stiff.
The seizures I am worried about are the subtle ones where the child may just have a change of breathing or just a slight twitch of the hand or foot for example.
{I have taken a lot of this information from a booklet on SWS written by Dr Sarah Aylett from GOSH}
PLEASE SEE www.sturgeweber.org.uk FOR MORE INFORMATION ON SWS AND HOW TO SUPPORT THE CHARITY.
Thursday, 11 October 2012
Diagnosis
Today Hallie was diagnosed with Sturge Weber Syndrome. We have had this in the back of our minds since she was born but it was confirmed today after her MRI brain scan last week - have just about stopped shaking now.
I am yet to speak to the neurologist regarding the details but will post again once I know more x
I am yet to speak to the neurologist regarding the details but will post again once I know more x
Tuesday, 9 October 2012
Saturday, 6 October 2012
An emotionally tiring week
Hallie had her laser appointment on 3rd October - it was her initial appointment and we went armed with a big list of questions expecting a thorough consultation and a plan of treatment put in place for Hallie so we could get the ball rolling with her treatment early.
This did not happen. We saw a registrar who spent time making notes about Hallie and saying things like "well, it looks like a port wine stain" DER! I was more than a little displeased and altogether unimpressed with the consultation. I had to strip her down to her nappy on what looked like a dentist chair which was very awkward. There were no nursing staff on hand to help and the clinic did not have a single picture on the wall (I think the way a clinic is presented has a huge effect on the patient and the way they feel) I did not feel comfortable or welcome here. I requested to see the consultant (since that was who we had been referred to!) and he came and spoke to us briefly, looking at Hallie's face and talking about laser treatment as though it was not a necessity rather a cosmetic procedure and therefore did not have any urgency or importance. I didn't like the manner of the consultant (informal and relaxed but not in a friendly caring way) He never sat down with us and talked through how he would go about treating such an extensive port wine stain as Hallie's - he was actually quite negative and said extensive birthmarks such as Hallie's quite often did not respond to treatment. At one point I asked him about the inner ear (as Hallie has deep stains all over both her ears which go right down into her ear canal) the consultant just replied "oh well most patients choose not to have their ears done because you can't see them as much as the face". He really did not seem to understand our concern, not for Hallie's appearance, but for the thickening of her birthmark in the future and the effect this may have on her hearing, sight, mouth\speech and nose\breathing! I was not impressed at all and we went away feeling perplexed and very disappointed.
The mixture of emotions gushing through both me and Graham (daddy) were exhausting and the worse was yet to come as Friday 5th October was MRI scan day.
Friday morning started (for me) at 3am, Hallie's last feed, I had to starve her after then for the general anaesthetic procedure. We got to the hospital for 7.30am and sat waiting with what looked like another 30 children with their parents, it was packed in the waiting area. The children were there for a variety of operations and procedures, not just MRI scans. We didn't have to wait too long and at 9am Hallie was taken from me by a male nurse and they disappeared through some double doors into theatre. I wasn't allowed to sit with her while she was put to sleep as she had to be put to sleep in theatre where she was having her endoscopy. The ENT consultant performed the endoscopy as he was concerned Hallie had a blockage in her airway that may have been caused by swollen birthmarks growing on her tongue. Straight after this procedure in theatre, Hallie had to be put under general anaesthetic and transferred to the x-ray department for her MRI scan which took 90 minutes! The MRI scan was on her brain (to look for stains related to Sturge Weber Syndrome) and her throat and chest to look for malformations and generally check the size and shape of things to check everything was okay.
After just over 2 hours away from us she was brought out of the x-ray department on a large bed, crying. Her voice was croaky and she was understandably groggy.
The ENT consultant explained that he found Hallie had a floppy larynx and a narrow windpipe - which he had operated on and made wider with a balloon. "You may notice an improvement with her breathing now" he told us. Hallie is always very congested and makes loud grunting and snorting noises quite often when breathing. He also confirmed there were no birthmarks on her tongue although it was quite large. He needs to do an examination of her throat and vocal chords while she is awake and crying which he will do over the next few weeks. I imagine this will be very traumatic for Hallie but better to do it when she is a baby I suppose.
We now have to wait for the MRI results (7 to 10 days) (will feel like years) and we have an appointment with the ENT consultant next week to discuss his findings in more detail.
Phew! A lot to talk about but all good news up to now and Hallie is back to her normal self today, smiling and feeding but still has her croaky voice x
This did not happen. We saw a registrar who spent time making notes about Hallie and saying things like "well, it looks like a port wine stain" DER! I was more than a little displeased and altogether unimpressed with the consultation. I had to strip her down to her nappy on what looked like a dentist chair which was very awkward. There were no nursing staff on hand to help and the clinic did not have a single picture on the wall (I think the way a clinic is presented has a huge effect on the patient and the way they feel) I did not feel comfortable or welcome here. I requested to see the consultant (since that was who we had been referred to!) and he came and spoke to us briefly, looking at Hallie's face and talking about laser treatment as though it was not a necessity rather a cosmetic procedure and therefore did not have any urgency or importance. I didn't like the manner of the consultant (informal and relaxed but not in a friendly caring way) He never sat down with us and talked through how he would go about treating such an extensive port wine stain as Hallie's - he was actually quite negative and said extensive birthmarks such as Hallie's quite often did not respond to treatment. At one point I asked him about the inner ear (as Hallie has deep stains all over both her ears which go right down into her ear canal) the consultant just replied "oh well most patients choose not to have their ears done because you can't see them as much as the face". He really did not seem to understand our concern, not for Hallie's appearance, but for the thickening of her birthmark in the future and the effect this may have on her hearing, sight, mouth\speech and nose\breathing! I was not impressed at all and we went away feeling perplexed and very disappointed.
The mixture of emotions gushing through both me and Graham (daddy) were exhausting and the worse was yet to come as Friday 5th October was MRI scan day.
Friday morning started (for me) at 3am, Hallie's last feed, I had to starve her after then for the general anaesthetic procedure. We got to the hospital for 7.30am and sat waiting with what looked like another 30 children with their parents, it was packed in the waiting area. The children were there for a variety of operations and procedures, not just MRI scans. We didn't have to wait too long and at 9am Hallie was taken from me by a male nurse and they disappeared through some double doors into theatre. I wasn't allowed to sit with her while she was put to sleep as she had to be put to sleep in theatre where she was having her endoscopy. The ENT consultant performed the endoscopy as he was concerned Hallie had a blockage in her airway that may have been caused by swollen birthmarks growing on her tongue. Straight after this procedure in theatre, Hallie had to be put under general anaesthetic and transferred to the x-ray department for her MRI scan which took 90 minutes! The MRI scan was on her brain (to look for stains related to Sturge Weber Syndrome) and her throat and chest to look for malformations and generally check the size and shape of things to check everything was okay.
After just over 2 hours away from us she was brought out of the x-ray department on a large bed, crying. Her voice was croaky and she was understandably groggy.
The ENT consultant explained that he found Hallie had a floppy larynx and a narrow windpipe - which he had operated on and made wider with a balloon. "You may notice an improvement with her breathing now" he told us. Hallie is always very congested and makes loud grunting and snorting noises quite often when breathing. He also confirmed there were no birthmarks on her tongue although it was quite large. He needs to do an examination of her throat and vocal chords while she is awake and crying which he will do over the next few weeks. I imagine this will be very traumatic for Hallie but better to do it when she is a baby I suppose.
We now have to wait for the MRI results (7 to 10 days) (will feel like years) and we have an appointment with the ENT consultant next week to discuss his findings in more detail.
Phew! A lot to talk about but all good news up to now and Hallie is back to her normal self today, smiling and feeding but still has her croaky voice x
Tuesday, 2 October 2012
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