We are starting the blog again as a lot of people are asking questions on whats happening with Mireya now and how she is getting on and we thank everyone that asks about our little girl.
Since having Our second beautiful baby. We have had a lot going on lots of hospital appointments, admissions to hospital and not really know where to turn for help and still looking for someone that will take Mireya's case on but least now we know what is the problem and we won't stop until we have got our beautiful little Miracle all the help and care she needs.
Finding out the diagnosis
We had a appointment at Sheffield children’s hospital on 28th February following a lot of blood tests Mireya had in December 2018 to try find out why Mireya wasn’t growing. We sat down me, Braiden, my mam and Nanny Lyn to get the result. The consultant explained that he would need to refer us to a genetics specialist as he didn’t know or heard of the problem before and it’s very rare only 1 in 125,000 get diagnosed with the condition Rubinstein-Taybi Syndrome.
'Rubinstein-Taybi' one word we have never heard before but now will use everyday. Funny how things change so quickly. We didn't know a thing but we have soon become experts on it.
He explained that the main features was broad thumbs & toes and red nose with wide bridge nose. To us she just had mammy's big toe 😱🙈 we didn’t think these features ment anything at all but they do. The consultant who has been fantastic with us couldn't tell us anymore than that. So we come away from the appointment confused, upset, we just didn’t know anything or how Mireya was gonna be effected in life by having Rubinstein-Taybi but one thing we knew was no matter what tag she had be labelled with she is OUR little girl and we love her so much and nothing will change that and we will do whatever is needed to help and care for her.
Mireya has been through so much already in her short little life but it’s never stopped that smiling little face that melts our hearts everytime.
We come home and did a little research but there isn’t a lot at all on the internet about Rubinstein-Taybi Syndrome as it’s so rare. We did however find a UK support group website where there was a information book so we printed it off and read and read and read until it sunk in what our little girls life was going to be like. With a lot of learning disabilities and late development (which we already knew with how prem she was) also 90% of people diagnosed don’t speak but this isn’t a problem there is other ways of communicating such as sign language, apps on iPads. Every symptom there is a way of helping and getting Mireya through life.
We have cried and kind of grieved for our baby as we just can’t believe what she has already been through and now been threw this in the mix. But onwards and upwards, we have 2 very beautiful little girls that I once got told I would never have and nothing makes me prouder than to watch them and hold them in my arms and think how lucky we are to be able to care and protect these 2 special little people that’s been sent into my life.
Since meeting the consultant we have met with another consultant at Sheffield children’s hospital which we was already under the care of and he told us Mireya has type 2 mild of Rubinstein-Taybi Syndrome well this has left us even more lost and confused as he couldn’t explain the different types and himself again didn’t know anything about the syndrome. So we have to wait till 17th April till we see the specialist consultant. With this been 8 weeks away we needed to find out some more information my sister found a consultant in Holland that is the top specialist and goes all over the would teaching doctors on the syndrome. I emailed the specialist and explained everything also asking if we could take Mireya to his clinic in Holland and to my surprise within 10 minutes I had a lovely reply from him. He asked us to stick with the appointment to see Consultant as he has trained him on the syndrome and would like him to explain and help us with everything but if we wasn’t happy once seeing mr Parker he would come to the UK and meet with us. Well we couldn’t ask for anymore knowing we was under someone that actually knew and trained by the top specialist and offering to come to us here is even better.
We have since found out that only 3% get diagnosed with type 2 Rubinstein-Taybi Syndrome which makes it even rarer but what this actually means in terms of effecting Mireya we don’t know but we will find out very shortly and be able then to put things in place to help her develop and become the strong funny little girl that she is.
Meeting with Genetics Consultant
So today's the day (17th April) we was finally be able to speak to someone with the understanding of Rubinstein-Taybi Syndrome.
again Me, Braiden, my Mam & Nanny Lyn all went to the appointment with questions ready. To our disappointment we never got to see the specialist we seen one of his understudies.
he explained to us that Mireya was missing the full EP300 gene plus 20 other genes in chromosome 22 (this was all a different language to us at the time) most people with Rubinstein-Taybi syndrome only have part of the gene missing. they explained that as this is even rarer they don't know how Mireya will be effected as the gene is completely missing and the body isn't trying to make up the other part of the gene whats there. The consultant explained that speech & physio therapy is key to help Mireya also to get her into nursery as this will all help her with development.
We come away again feeling no better as they still couldn't tell us what to expect. So once we got home i e-mailed Prof in Holland he explained to me that he only knows of 1 other case in the world to have the full missing gene but can't tell us how it effects this person as they have a lot of other problems as well as the syndrome. So our little miracle is now 1 of 2 in the world.
We got home and as soon as we got my head around everything i rang a nursery, found a private speech therapist (as the NHS waiting list is 12-18month) and this is very important to start while her brain is still developing.
My mam a while ago in-between testing and waiting for the results contacted Lynne Whatmore (Showman's Children's Charity) to see if we needed help with anything for Mireya would the charity be willing to help. Lynne said once we knew how the charity could help Mireya she would speak to all trustees. So i e-mailed Lynne, the genetics report from the hospital and explained the waiting times on NHS and that the consultant said she would benefit from speech therapy asap. Lynne contacted all trustees and they agreed the charity would fund Mireya's Initial Assessment and then look into the case again once we knew how many sessions etc Mireya would need. We are so thankful to Lynne and the trustees of the Showman's Children's Charity for this.
Nursery
We did not want to send our baby girl to nursery just yet but if this was going to help her then we have to do what is best for Mireya at 18 months old, We visited the nursery a week after making contact and we couldn't of wished for a better nursery for Mireya. They put a care plan in place, Development targets and Mireya's key worker is so lovely and wanting to help her & us so much. so first day we stayed with Mireya for 1 hour then left her for 1 hour then we took her the next day and she had 3 hours on her own then 3 days later she had her first afternoon, 5 hours at nursery. Most people told me i would cry or not want to leave Mireya but this fantastic nursery and practitioners made us feel so at ease and truly care and want to help Mireya that we felt ok leaving her. When we went to collect Mireya she was sat in a circle with the other children playing with toys it made us feel so proud of her. Taking another big thing in her stride.
Speech Therapy
I spoke to the Speech Therapist on the phone and she was lovely and said from what i have told her about Mireya she thinks she might be able to help so we was in for assessment on 15th May.
We went to the assessment and the lovely lady had done research on the syndrome Mireya has and stated of with some really positive feedback for us after 5 minutes of been in there that she thought Mireya was going to be a lot worse and that she thinks with a to of help and long term therapy she has hope that Mireya will speak. She is going to see Mireya in blocks of 6 weeks with a little break then another 6 weeks and so on.
Our first 6 weeks and homework is to get Mireya used to the words MORE & NO but also using Makaton (Sign Language) to help her communicate with us. Until the speech therapist said that using MORE can help Mireya a lot we didn't realise how much you actually use the word (more food, play, telly, sleep it can help with a lot).
I contacted the Showman's Children's Charity once we had been to Speech Therapy with Mireya and Lynne is going to get a meeting with the trustees to see if they all happy for the charity to help Mireya with Speech Therapy so i await their decision on this after giving all information from Mireya's assessment.
Since the diagnosis we have struggled for the GP to see Mireya so we had to go to A&E when her eye swelled up last week and they give us antibiotics which we had to rush her back the next day as she got this really bad red rash all over her body which turned out to be a reaction to penicillin she was then given IV antibiotics and after 3 days in hospital i started going crazy no one seemed to want to help or know a plan for Mireya as everyone is scared to make a decision as they don't know what Rubinstein-Taybi is. Braiden had to go find Mireya's consultant who come to the ward and sorted her out and made a plan for us to come home on oral antibiotics. He has been fantastic with us and even said if we get any concerns or worried just to ring him and he will see her straight away. we shouldn't have to do that she should be able to see a GP but I've been told by a lot of people now once that label is there Doctors, Nurses, Consultants all get scared of putting there name to any medical action.
Since having Our second beautiful baby. We have had a lot going on lots of hospital appointments, admissions to hospital and not really know where to turn for help and still looking for someone that will take Mireya's case on but least now we know what is the problem and we won't stop until we have got our beautiful little Miracle all the help and care she needs.
Finding out the diagnosis
We had a appointment at Sheffield children’s hospital on 28th February following a lot of blood tests Mireya had in December 2018 to try find out why Mireya wasn’t growing. We sat down me, Braiden, my mam and Nanny Lyn to get the result. The consultant explained that he would need to refer us to a genetics specialist as he didn’t know or heard of the problem before and it’s very rare only 1 in 125,000 get diagnosed with the condition Rubinstein-Taybi Syndrome.
'Rubinstein-Taybi' one word we have never heard before but now will use everyday. Funny how things change so quickly. We didn't know a thing but we have soon become experts on it.
He explained that the main features was broad thumbs & toes and red nose with wide bridge nose. To us she just had mammy's big toe 😱🙈 we didn’t think these features ment anything at all but they do. The consultant who has been fantastic with us couldn't tell us anymore than that. So we come away from the appointment confused, upset, we just didn’t know anything or how Mireya was gonna be effected in life by having Rubinstein-Taybi but one thing we knew was no matter what tag she had be labelled with she is OUR little girl and we love her so much and nothing will change that and we will do whatever is needed to help and care for her.
Mireya has been through so much already in her short little life but it’s never stopped that smiling little face that melts our hearts everytime.
We come home and did a little research but there isn’t a lot at all on the internet about Rubinstein-Taybi Syndrome as it’s so rare. We did however find a UK support group website where there was a information book so we printed it off and read and read and read until it sunk in what our little girls life was going to be like. With a lot of learning disabilities and late development (which we already knew with how prem she was) also 90% of people diagnosed don’t speak but this isn’t a problem there is other ways of communicating such as sign language, apps on iPads. Every symptom there is a way of helping and getting Mireya through life.
We have cried and kind of grieved for our baby as we just can’t believe what she has already been through and now been threw this in the mix. But onwards and upwards, we have 2 very beautiful little girls that I once got told I would never have and nothing makes me prouder than to watch them and hold them in my arms and think how lucky we are to be able to care and protect these 2 special little people that’s been sent into my life.
Since meeting the consultant we have met with another consultant at Sheffield children’s hospital which we was already under the care of and he told us Mireya has type 2 mild of Rubinstein-Taybi Syndrome well this has left us even more lost and confused as he couldn’t explain the different types and himself again didn’t know anything about the syndrome. So we have to wait till 17th April till we see the specialist consultant. With this been 8 weeks away we needed to find out some more information my sister found a consultant in Holland that is the top specialist and goes all over the would teaching doctors on the syndrome. I emailed the specialist and explained everything also asking if we could take Mireya to his clinic in Holland and to my surprise within 10 minutes I had a lovely reply from him. He asked us to stick with the appointment to see Consultant as he has trained him on the syndrome and would like him to explain and help us with everything but if we wasn’t happy once seeing mr Parker he would come to the UK and meet with us. Well we couldn’t ask for anymore knowing we was under someone that actually knew and trained by the top specialist and offering to come to us here is even better.
We have since found out that only 3% get diagnosed with type 2 Rubinstein-Taybi Syndrome which makes it even rarer but what this actually means in terms of effecting Mireya we don’t know but we will find out very shortly and be able then to put things in place to help her develop and become the strong funny little girl that she is.
Meeting with Genetics Consultant
So today's the day (17th April) we was finally be able to speak to someone with the understanding of Rubinstein-Taybi Syndrome.
again Me, Braiden, my Mam & Nanny Lyn all went to the appointment with questions ready. To our disappointment we never got to see the specialist we seen one of his understudies.
he explained to us that Mireya was missing the full EP300 gene plus 20 other genes in chromosome 22 (this was all a different language to us at the time) most people with Rubinstein-Taybi syndrome only have part of the gene missing. they explained that as this is even rarer they don't know how Mireya will be effected as the gene is completely missing and the body isn't trying to make up the other part of the gene whats there. The consultant explained that speech & physio therapy is key to help Mireya also to get her into nursery as this will all help her with development.
We come away again feeling no better as they still couldn't tell us what to expect. So once we got home i e-mailed Prof in Holland he explained to me that he only knows of 1 other case in the world to have the full missing gene but can't tell us how it effects this person as they have a lot of other problems as well as the syndrome. So our little miracle is now 1 of 2 in the world.
We got home and as soon as we got my head around everything i rang a nursery, found a private speech therapist (as the NHS waiting list is 12-18month) and this is very important to start while her brain is still developing.
My mam a while ago in-between testing and waiting for the results contacted Lynne Whatmore (Showman's Children's Charity) to see if we needed help with anything for Mireya would the charity be willing to help. Lynne said once we knew how the charity could help Mireya she would speak to all trustees. So i e-mailed Lynne, the genetics report from the hospital and explained the waiting times on NHS and that the consultant said she would benefit from speech therapy asap. Lynne contacted all trustees and they agreed the charity would fund Mireya's Initial Assessment and then look into the case again once we knew how many sessions etc Mireya would need. We are so thankful to Lynne and the trustees of the Showman's Children's Charity for this.
Nursery
We did not want to send our baby girl to nursery just yet but if this was going to help her then we have to do what is best for Mireya at 18 months old, We visited the nursery a week after making contact and we couldn't of wished for a better nursery for Mireya. They put a care plan in place, Development targets and Mireya's key worker is so lovely and wanting to help her & us so much. so first day we stayed with Mireya for 1 hour then left her for 1 hour then we took her the next day and she had 3 hours on her own then 3 days later she had her first afternoon, 5 hours at nursery. Most people told me i would cry or not want to leave Mireya but this fantastic nursery and practitioners made us feel so at ease and truly care and want to help Mireya that we felt ok leaving her. When we went to collect Mireya she was sat in a circle with the other children playing with toys it made us feel so proud of her. Taking another big thing in her stride.
Speech Therapy
I spoke to the Speech Therapist on the phone and she was lovely and said from what i have told her about Mireya she thinks she might be able to help so we was in for assessment on 15th May.
We went to the assessment and the lovely lady had done research on the syndrome Mireya has and stated of with some really positive feedback for us after 5 minutes of been in there that she thought Mireya was going to be a lot worse and that she thinks with a to of help and long term therapy she has hope that Mireya will speak. She is going to see Mireya in blocks of 6 weeks with a little break then another 6 weeks and so on.
Our first 6 weeks and homework is to get Mireya used to the words MORE & NO but also using Makaton (Sign Language) to help her communicate with us. Until the speech therapist said that using MORE can help Mireya a lot we didn't realise how much you actually use the word (more food, play, telly, sleep it can help with a lot).
I contacted the Showman's Children's Charity once we had been to Speech Therapy with Mireya and Lynne is going to get a meeting with the trustees to see if they all happy for the charity to help Mireya with Speech Therapy so i await their decision on this after giving all information from Mireya's assessment.
Since the diagnosis we have struggled for the GP to see Mireya so we had to go to A&E when her eye swelled up last week and they give us antibiotics which we had to rush her back the next day as she got this really bad red rash all over her body which turned out to be a reaction to penicillin she was then given IV antibiotics and after 3 days in hospital i started going crazy no one seemed to want to help or know a plan for Mireya as everyone is scared to make a decision as they don't know what Rubinstein-Taybi is. Braiden had to go find Mireya's consultant who come to the ward and sorted her out and made a plan for us to come home on oral antibiotics. He has been fantastic with us and even said if we get any concerns or worried just to ring him and he will see her straight away. we shouldn't have to do that she should be able to see a GP but I've been told by a lot of people now once that label is there Doctors, Nurses, Consultants all get scared of putting there name to any medical action.
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| Sister Sister Mireya & Vienna Tuby |
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