Well, we've had some mixed news. They couldn't find a 10:10 match for Imogen, both the German and American candidates turned out to be 9:10's, so they've decided to go ahead with me at 9:10. It's good because it means things will start moving now but it would have been good to have a 10:10 match to give her the best possible chance.
They've decided not to harvest my stem cells from my blood but to go into the hip bone to extract the marrow directly. So on Monday the 13th we both went in for a full medical at the Bristol Childrens Hospital. I got a clean bill of health but unfortunately they found a virus in Jim Jam's blood sample meaning their target admission date of today has been put back by up to four weeks. We're both a bit gutted, although we know it's for the best.
We're keeping her at home as much as possible now to reduce any chances of catching anything else and all visitors are asked to be bug free and to sterilise their hands as they come in. Even so I know Wendy is climbing the walls at the moment so I think she'd appreciate any visitors.
What else, oh yes Jim Jam seems to be getting on really well with her hearing aids now and giggles away like a thing possessed listening to musical or noisy toys (or noisy nieces). She's wearing them for hours at a time now, which is great, and isn't putting up such a fight when we fit them.
Visit to the Paediatrician tomorrow. I think she'll be shocked at the weight our girl's put on. Must be over a kilo since her diet was changed which is a miracle compared to the way she was losing weight.
Signing off for now.
Monday, 20 June 2011
Wednesday, 8 June 2011
Wednesday 8th June 2011
Well I haven't updated the blog in a while. After our awful news from the consultant I wasn't in the right frame of mind. Now it has all suddenly gone manic. For those who don't yet know Imogen had her formula changed for a prescription food called Infatrini. The stuff has worked wonders and instead of losing weight she immediately started putting it on, and quickly. We had to visit the consultant again for a chat and he was so bowled over with her recovery he changed his mind about not doing her transplant. He immediately took our bloods for tissue matching and has now applied for and got the funding for the procedure.
We have since found out that I am the best match with a 9 out of 10 score, but they're going to try and find a 10 out of 10 matched donor. We've been told that there are two potential candidates. One in America and one in Germany, fingers crossed.
Thanks to all who came to Jim Jams 1st birthday party on the 22nd of May or who sent presents and cards. It was a lovely day and we were stunned by what a thoughtful and clever lot you all are in coming up with suitable presents.
OK well back to the whole tranaplant thing. They fitted a Twin Hickman line into her chest on the 24th of May under General Anaesthetic. It will allow easy taking of blood, administering drugs, food and transfusions. All seemed to go well but within two days she started bleeding and we spent Thursday, Friday and Saturday nights in and out of hospital having the chest incision constantly redressed. It seems to have settled down and Wendy has even cleaned and redressed it herself when the little darling managed to pull the dressing off.
On Thursday 2nd of May Imogen had her hearing aids fitted. You should have seen the look on her face when they switched them on. She's having them in for a couple of hours each day until she gets used to them but although it's overwhelming for her at times you can see the world opening up to her.
We have since found out that I am the best match with a 9 out of 10 score, but they're going to try and find a 10 out of 10 matched donor. We've been told that there are two potential candidates. One in America and one in Germany, fingers crossed.
Thanks to all who came to Jim Jams 1st birthday party on the 22nd of May or who sent presents and cards. It was a lovely day and we were stunned by what a thoughtful and clever lot you all are in coming up with suitable presents.
OK well back to the whole tranaplant thing. They fitted a Twin Hickman line into her chest on the 24th of May under General Anaesthetic. It will allow easy taking of blood, administering drugs, food and transfusions. All seemed to go well but within two days she started bleeding and we spent Thursday, Friday and Saturday nights in and out of hospital having the chest incision constantly redressed. It seems to have settled down and Wendy has even cleaned and redressed it herself when the little darling managed to pull the dressing off.
On Thursday 2nd of May Imogen had her hearing aids fitted. You should have seen the look on her face when they switched them on. She's having them in for a couple of hours each day until she gets used to them but although it's overwhelming for her at times you can see the world opening up to her.
Tuesday, 19 April 2011
Tuesday 12th April 2011
Meeting with the community paediatrician today. I don't think either of us was really in the mood. We'd just got Dr Steward's letter laying out in black and white what he'd told me over the phone and I think we'd both just had one of the most bloody miserable weeks of our lives.
The Paediatrician seemed pleasant enough but we'd been here before. She was another 'professional' whose name I was going to forget would spend ten minutes prodding our baby, tutting and saying 'well you need to stimulate her you know, if she's going to develop'. I had my answer ready beforehand. 'Really' I'd say 'well between us and nursery we did such a good job with Caitlin we thought we'd just skip the next one' (I never said I was reasonable, but it gets you like that).
She read the letter from Dr Steward, she prodded and tutted and weighed and scribbled. I waited, spiteful words at the ready. 'This girl needs building up. I'll get straight on to the Dietitian and get her on Infatrini. You need to claim some Disability allowance for her it'll help with your costs, we'll get someone to help you fill out the forms so you get what you're due. What about her hearing? How's nursery dealing with it? How are you guys doing? Seriously you need to look after yourselves so go and see your doctor if you're finding things difficult'.
In that one hour she covered everything we'd worried about and more, and true to her word by the end of the week we had Imogen on high calorie food to combat her weight loss. We'd been desperate for some decent food for her for weeks, so that alone was the biggest relief. More importantly we feel we've got somebody co-ordinating things a bit and fighting Imogen's corner at last.
I think that was a turning point for us.
The Paediatrician seemed pleasant enough but we'd been here before. She was another 'professional' whose name I was going to forget would spend ten minutes prodding our baby, tutting and saying 'well you need to stimulate her you know, if she's going to develop'. I had my answer ready beforehand. 'Really' I'd say 'well between us and nursery we did such a good job with Caitlin we thought we'd just skip the next one' (I never said I was reasonable, but it gets you like that).
She read the letter from Dr Steward, she prodded and tutted and weighed and scribbled. I waited, spiteful words at the ready. 'This girl needs building up. I'll get straight on to the Dietitian and get her on Infatrini. You need to claim some Disability allowance for her it'll help with your costs, we'll get someone to help you fill out the forms so you get what you're due. What about her hearing? How's nursery dealing with it? How are you guys doing? Seriously you need to look after yourselves so go and see your doctor if you're finding things difficult'.
In that one hour she covered everything we'd worried about and more, and true to her word by the end of the week we had Imogen on high calorie food to combat her weight loss. We'd been desperate for some decent food for her for weeks, so that alone was the biggest relief. More importantly we feel we've got somebody co-ordinating things a bit and fighting Imogen's corner at last.
I think that was a turning point for us.
Wednseday 6th April 2011
Wendy'd gone out for the evening and I'd just got Caitlin off to bed when I got 'the call'. Our consultant Dr Colin Steward rang to say they'd had the results back from Great Ormond Street. It confirmed Proton pump failure. In his usual 'pull no punches' way he said this meant that Chemo therapy and a Bone Marrow transplant would have to be very aggressive. He was unwilling to subject Imogen to that as on every previous occasion that it has been tried it has been unsuccessful. That means exactly what you think it means.
To further complicate matters Imogen has a very rare tissue type so the chances of getting a match are very remote. If they try for a partial match then we're back to drug therapy, rejection and following complications. It's a lose/lose scenario and every one of the transplant team are unwilling recommend the operation.
In his words he can't provide quality of life, so that leaves us with 'palliative' type care. That means treat symptoms and make comfortable. He was keen that we pursue the avenues we're exploring i.e.sight and hearing assistance, physiotherapists, dietitians etc and he would arrange a face to face meeting with us.
To further complicate matters Imogen has a very rare tissue type so the chances of getting a match are very remote. If they try for a partial match then we're back to drug therapy, rejection and following complications. It's a lose/lose scenario and every one of the transplant team are unwilling recommend the operation.
In his words he can't provide quality of life, so that leaves us with 'palliative' type care. That means treat symptoms and make comfortable. He was keen that we pursue the avenues we're exploring i.e.sight and hearing assistance, physiotherapists, dietitians etc and he would arrange a face to face meeting with us.
Wednesday, 16 March 2011
Tuesday 15th March 2011
Having a day off work to look after Imogen after having to take her to A & E on Sunday. Her perpetual cold had moved onto her chest and had given her severe Conjunctivitus as well. Whilst waiting for the next session of battling with Antibiotics and eye ointments I called Dr Steward to see how her test results were progressing.
Wished I hadn't asked. He's concerned that her hearing tests weren't as good as they hoped and believe the audio signals aren't getting from her ears to the part of her brain that decodes the information. This means further tests. Worse is that she's in the lowest percentile for brain size and highest for fluid volume around the brain. That can mean a lot of things, but learning difficulties could arise later on and the fluid volume could be due to reduced functionality of the cranial and spinal canals. The benefits of a Bone Marrow transplant are starting to be outweighed by the risks (MIOP needs a very complex transplant procedure in order to be effective). DNA testing is still being carried out by the DNA lab in North Bristol, by Bristol Childrens Hospital (Chlorine Channel detection) and Great Ormond Street (Proton pump sequencing). All this high tech jargon means they're basically trying to determine why Imogens Osteoclasts aren't working (Osteoclasts create the natural bone marrow voids in our bones).
What is causing concern is that they still haven't come across one defective gene sequence in the Chlorine Channel, let alone two (you need at least two to cause a genetic defect). That limits the effectiveness of a transplant. Secondly she has already lost her eyesight. That means they don't need to transplant to preserve vision. Thirdly she has a high red blood cell count. If her count was low then that would create the urgency for a transplant. Fourthly they haven't got a scooby what's causing this condition.
In the words of Doctor Steward, they're entering unknown territory. If the tests all come back negative then their last option is to go to probably the worlds best genetic disorder research lab in Italy to see if they can sequence the rest of her DNA for something new.
In the meantime Doctor Stewards priority is Imogens delayed development. They will keep that as their focus and aim their testing and treatment at this. I'm not expecting much to happen for the next few weeks.
We've been warned that if it's not a condition that's Steroid treatable that we have to be prepared for the long haul with lots of waiting for DNA results.
Not a very cheery one this time so lets hope for good news on the next one.
Wished I hadn't asked. He's concerned that her hearing tests weren't as good as they hoped and believe the audio signals aren't getting from her ears to the part of her brain that decodes the information. This means further tests. Worse is that she's in the lowest percentile for brain size and highest for fluid volume around the brain. That can mean a lot of things, but learning difficulties could arise later on and the fluid volume could be due to reduced functionality of the cranial and spinal canals. The benefits of a Bone Marrow transplant are starting to be outweighed by the risks (MIOP needs a very complex transplant procedure in order to be effective). DNA testing is still being carried out by the DNA lab in North Bristol, by Bristol Childrens Hospital (Chlorine Channel detection) and Great Ormond Street (Proton pump sequencing). All this high tech jargon means they're basically trying to determine why Imogens Osteoclasts aren't working (Osteoclasts create the natural bone marrow voids in our bones).
What is causing concern is that they still haven't come across one defective gene sequence in the Chlorine Channel, let alone two (you need at least two to cause a genetic defect). That limits the effectiveness of a transplant. Secondly she has already lost her eyesight. That means they don't need to transplant to preserve vision. Thirdly she has a high red blood cell count. If her count was low then that would create the urgency for a transplant. Fourthly they haven't got a scooby what's causing this condition.
In the words of Doctor Steward, they're entering unknown territory. If the tests all come back negative then their last option is to go to probably the worlds best genetic disorder research lab in Italy to see if they can sequence the rest of her DNA for something new.
In the meantime Doctor Stewards priority is Imogens delayed development. They will keep that as their focus and aim their testing and treatment at this. I'm not expecting much to happen for the next few weeks.
We've been warned that if it's not a condition that's Steroid treatable that we have to be prepared for the long haul with lots of waiting for DNA results.
Not a very cheery one this time so lets hope for good news on the next one.
Wednesday 9th March 2011
MRI scan day. This is to assess her brain condition and to be used to compare to her previous MRI to determine if there's any deterioration.
Not much to say about this. It's never nice watching a small child going under General Anaesthetic. As usual, while we fretted, Imogen took it all with stoic indifference. Having been starved since 02:30am when she came round after the scan at 09:30 she tried to chew my arm off. Whilst I carried her on foot from the MRI unit back to the Childrens Hospital Imogen never stopped feeding.
Just have to wait for the results now. You know what's interesting is that whilst we've been having all these tests done we've been treated like royalty. You always feel that people are somehow honour bound to say that the staff have been 'fantastic' when they've been treated for an ongoing condition. But now having been in that position I have to agree. It really is remarkable how a small child having a serious condition seems to break down the barriers. I've lost count of how many times I've heard ' Oh you're a bit early, go straight in they'll see you now' or 'She's so little we'll test you first so you can be on your way' or my personal favorite 'I'm not happy with her chest I'd like her to have an X-Ray'. Why is that my personal favourite, well in the time it's taken you to read this blog I walked down the corridor to the X-Ray Dept where the Tech was expecting me. He did the X-Ray, I walked back to the Doctor who had the results on screen and had declared her safe and had prescribed the treatment, it was that quick, gotta love the NHS.
Just the results to wait for now, for the MRI and the audio-visual testing.
Not much to say about this. It's never nice watching a small child going under General Anaesthetic. As usual, while we fretted, Imogen took it all with stoic indifference. Having been starved since 02:30am when she came round after the scan at 09:30 she tried to chew my arm off. Whilst I carried her on foot from the MRI unit back to the Childrens Hospital Imogen never stopped feeding.
Just have to wait for the results now. You know what's interesting is that whilst we've been having all these tests done we've been treated like royalty. You always feel that people are somehow honour bound to say that the staff have been 'fantastic' when they've been treated for an ongoing condition. But now having been in that position I have to agree. It really is remarkable how a small child having a serious condition seems to break down the barriers. I've lost count of how many times I've heard ' Oh you're a bit early, go straight in they'll see you now' or 'She's so little we'll test you first so you can be on your way' or my personal favorite 'I'm not happy with her chest I'd like her to have an X-Ray'. Why is that my personal favourite, well in the time it's taken you to read this blog I walked down the corridor to the X-Ray Dept where the Tech was expecting me. He did the X-Ray, I walked back to the Doctor who had the results on screen and had declared her safe and had prescribed the treatment, it was that quick, gotta love the NHS.
Just the results to wait for now, for the MRI and the audio-visual testing.
Friday 4th March 2011
Today is hearing and eyesight tests at Bristol Childrens Hospital. This will assess obviously her senses but also her brain stem function. Jim Jam was as usual a star and the Technicians blitzed through the tests in record time. She had a nest of electrodes glued (I kid you not) to her head and then she was subjected to various speeds of strobe lights followed by strobes and sounds through headphones. The headphones, I think, were huge bakelite items circa 1930 so it was a bit like strapping dustbins to her head. So I sat there holding Imogen on my knee with one hand, jamming a bottle in her mouth with the other, her head covered in electrodes wired into a machine, with a tech holding the headphones on her, another one occasionally waving a dinner plate sized strobe in her face. All this taking place in a room the size of a broom cupboard, if there had been a fire we'd have ended up in one huge cats cradle in the dash to get out.
Anyway as I say Jim Jam was a star, promptly falling asleep as soon as they blasted her with the headphones. We were out of there in no time and had a nice relaxed drive home. Her head now looks like a patchwork quilt where the glue removed her cradle cap (with the aid of Acetone!), but at least it's done. Now for the next test. MRI due next week.
Anyway as I say Jim Jam was a star, promptly falling asleep as soon as they blasted her with the headphones. We were out of there in no time and had a nice relaxed drive home. Her head now looks like a patchwork quilt where the glue removed her cradle cap (with the aid of Acetone!), but at least it's done. Now for the next test. MRI due next week.
Wednesday, 9 March 2011
Background
I've decided to start this blog because of the sucker punch Wendy and I had just a couple of months ago. I apologise in advance if I don't pull any punches but I feel it's important to relay it just as it's unfolded. Many of you will know of her ongoing condition but for those who don't or who don't know the latest status hopefully this blog will help. Our gorgeous little poppet Imogen had been diagnosed with Nystagmus (roving eye syndrome) last year. She never fixed on or followed anything, even us. After various examinations by Paediatricians and eye specialists in Cheltenham and Gloucester Hospitals there was a suspicion that something else was going on.
We were referred to Bristol Childrens Hospital where, whilst Imogen was being assessed, the consultant walked quietly into the room and announced that he was pretty certain she had MIOP. Malignant Infantile Osteo-Petrosis is a Genetic Bone Disorder that is fairly nasty and extremely rare, 4-5 cases per 1 million births. They currently have 1 other case on the books and that's their first case in 5 years. Basically her bone marrow isn't functioning to hollow out her bones, so they just get more and more dense.
Her 'Nystagmus' was actually down to the fact she was losing her eyesight (the excess bone causes the optic nerve to atrophy).
She also has badly delayed development, due almost certainly to the severe strain her condition puts on her.
The bad news and the good. The bad news is, if untreated it's terminal. Good news is that a succesful bone marrow transplant has a very good chance of giving her a normal lifespan.
Caitlin's been tested and isn't a tissue match. Myself and Wendy are no good as Imogen only has half of each of our genes so we can't be a match, now our hope is that we find a match in the National Bone Marrow Register.
Meanwhile testing is ongoing to assess her eyesight, hearing, neurological function, development etc...
We were referred to Bristol Childrens Hospital where, whilst Imogen was being assessed, the consultant walked quietly into the room and announced that he was pretty certain she had MIOP. Malignant Infantile Osteo-Petrosis is a Genetic Bone Disorder that is fairly nasty and extremely rare, 4-5 cases per 1 million births. They currently have 1 other case on the books and that's their first case in 5 years. Basically her bone marrow isn't functioning to hollow out her bones, so they just get more and more dense.
Her 'Nystagmus' was actually down to the fact she was losing her eyesight (the excess bone causes the optic nerve to atrophy).
She also has badly delayed development, due almost certainly to the severe strain her condition puts on her.
The bad news and the good. The bad news is, if untreated it's terminal. Good news is that a succesful bone marrow transplant has a very good chance of giving her a normal lifespan.
Caitlin's been tested and isn't a tissue match. Myself and Wendy are no good as Imogen only has half of each of our genes so we can't be a match, now our hope is that we find a match in the National Bone Marrow Register.
Meanwhile testing is ongoing to assess her eyesight, hearing, neurological function, development etc...
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