Thank you everyone for your kind lovely words when we posted about Mireya’s diagnosis of Rubinstein-Taybi Syndrome it honestly means so much to us. We posted just to raise awareness and let people know how she was getting on as a lot of messages we was getting it’s easier this way to update.
We would like to say a huge thank you to all the trustees at the Showman’s Children’s Charity who have agreed to help fund Mireya’s Speech Therapy. We honestly can't thank them all enough for this.
This last few week we have really felt the pressure and feel like we have been hitting our heads against a brick wall with no one knowing about Rubinstein-Taybi and not wanting to help Mireya it really has been difficult.
Until Sunday 26th May i found another parent who's 4yr old has RTS on Instagram so i started messaging her she give me lots of advice and also added me to privately closed closed for people with RTS i added a post asking if anyone else had a children with the full EP300 gene missing (knowing there was at least one other person in the world and hoping to find) after about 3 hours of me posting on this group a lady wrote my daughter has the full gene missing. I started shaking as i wrote a private message to her and couldn't believe we had found the only other little girl in the world to have it.
The little girl is from Germany and is 15 years old her mam couldn't of been more helpful giving me advice telling me how well her daughter is doing, Its kind of given us a little more hope as this girl seeks, reads, writes (everything we thought was gonna be impossible). This isn't saying Mireya will do all these things but it certainly has given us a lot more hope and fight to help her.
After this we was hopeful and was determined even more to get Mireya as much as help as possible and was going to contact a RTS genetics specialist who we have already emailed over a month ago but still no reply but to our surprise on Tuesday 28th May i got a E-Mail from him saying he is more than happy to see Mireya and do what ever he can to help her and us and try tell us about the other 20 genes that Mireya is missing and what they are used for. Mireya's consultant has now put a referral in for Mireya and hopefully in the next 4 weeks we will have appointment with Dr Adam Shaw.
Today (6th June) we had cardio appointment for Mireya's 1 year check up. Everything was absolutely perfect the patch is still in place and her heart is functioning as it should so thats it now for another year. She will need yearly appointments for life just incase the patch comes away as she grows but at the minute everything is looking great. Also today when picked her up from nursery we went to see Nanny Lyn and Zophia and Mireya crawled properly for the first time we couldn't believe our eyes but thats it now eyes in the back of our heads. This for Mireya is again another massive milestone and one we have wanted for a very long time.
Pain
We have recently noticed Mireya doesn't cry when falling or banging her head and other things most children cry at. I posted a post on the RTS support group to see if anyone else had a high pain barrier and it seems people with RTS have a extremely high pain barrier. This is now so worrying for us as we really have to watch her now she is crawling cause she could really hurt herself and we wouldn't know cause she wouldn't cry.
10th June
whole week of appointments for Mireya plus nursery two afternoons.
Development, Eye test, Speech Therapy, Health Visitor
Development appointment
We went into this appointment knowing they was going to say Mireya is behind knowing that she has delayed development but intact with the syndrome and her been 10 weeks premature they said she is on target. When the doctor said this we was so happy to hear as before we have been disheartened but to hear positive things was nice for a change. They have also referred us to dematology for her skin as its gone really bad lately and referred us to council for funding for help with education in the future and any other specialist care we may need for mireya this is call protage we was happy to sign the consent form as at the moment we need as much help and support for Mireya as possible.
(Portage is a home visiting, educational service for pre-school children with additional support needs and their families. Portage offers a framework of support with regular home visits, by a trained Portage Home Visitor. Parents share with the home visitor their understanding of their child’s individual abilities and support needs.)
Eye Test Appointment
today we got to see the specialist that Mireya had check her eyes when she was on the Neonatal Unit at Doncaster Hospital he has seen another child with RTS (Rubinstein-Taybi Syndrome) so luckily for us knows what to look out for. He asked if Mireya produced tears which to our surprise we actually don't think she does. He managed to do a full examination on Mireya and discovered that she is slightly long sighted in one eye and very long sighted in the other and has give her 3 days of eye drops for her to unblock the tear ducts and will review her again in 3 weeks time. She may need glasses for the long sighted eye but didn't want to say yet as he wanted to see if these drops make a difference to her with her eyes been swollen for quiet some time now.
Speech Therapy
WOW what a session very positive when we finished our 3rd session. Mireya has become more vocal (no words just sounds) but is expressing that she is understanding the sign and understanding of MORE. this was a 6 week target for Mireya but the therapist is so happy with her progress.
Health Visitor
We have had the same health visitor since Mireya was born and today she come in and cried she could not believe the improvement in Mireya and the things she was doing since she last visited us.
Newcastle Fundraising
Myself, Braiden and families are so overwhelmed with the support everyone has given at all the events at Newcastle Town Moor. We would like to say a massive thank you to everyone that has donated prizes of raffles and auctions and to everyone that has bought raffle tickets bid in the auction and out in the donation buckets, its absolutely amazing.
There is so many individuals to name but we would like to say a great big thank you to each and every one of you.
Our beautiful little miracle is getting the speech therapy she needs NOW thanks to the Showman's Children's Charity as NHS wait is 18m which could be to late to trigger that part of Mireya's brain.
The Showman's Childrens Charity has had a lot of negativity lately and it shouldn't do cause its not only helping Mireya it is helping other Showman's Children right now as well as Mireya. Mireya is the 12th child to be helped by the charity.
Again thank you everyone for you support and kind words and offers of help it really does mean a lot to us.
We would like to say a huge thank you to all the trustees at the Showman’s Children’s Charity who have agreed to help fund Mireya’s Speech Therapy. We honestly can't thank them all enough for this.
This last few week we have really felt the pressure and feel like we have been hitting our heads against a brick wall with no one knowing about Rubinstein-Taybi and not wanting to help Mireya it really has been difficult.
Until Sunday 26th May i found another parent who's 4yr old has RTS on Instagram so i started messaging her she give me lots of advice and also added me to privately closed closed for people with RTS i added a post asking if anyone else had a children with the full EP300 gene missing (knowing there was at least one other person in the world and hoping to find) after about 3 hours of me posting on this group a lady wrote my daughter has the full gene missing. I started shaking as i wrote a private message to her and couldn't believe we had found the only other little girl in the world to have it.
The little girl is from Germany and is 15 years old her mam couldn't of been more helpful giving me advice telling me how well her daughter is doing, Its kind of given us a little more hope as this girl seeks, reads, writes (everything we thought was gonna be impossible). This isn't saying Mireya will do all these things but it certainly has given us a lot more hope and fight to help her.
After this we was hopeful and was determined even more to get Mireya as much as help as possible and was going to contact a RTS genetics specialist who we have already emailed over a month ago but still no reply but to our surprise on Tuesday 28th May i got a E-Mail from him saying he is more than happy to see Mireya and do what ever he can to help her and us and try tell us about the other 20 genes that Mireya is missing and what they are used for. Mireya's consultant has now put a referral in for Mireya and hopefully in the next 4 weeks we will have appointment with Dr Adam Shaw.
Today (6th June) we had cardio appointment for Mireya's 1 year check up. Everything was absolutely perfect the patch is still in place and her heart is functioning as it should so thats it now for another year. She will need yearly appointments for life just incase the patch comes away as she grows but at the minute everything is looking great. Also today when picked her up from nursery we went to see Nanny Lyn and Zophia and Mireya crawled properly for the first time we couldn't believe our eyes but thats it now eyes in the back of our heads. This for Mireya is again another massive milestone and one we have wanted for a very long time.
Pain
We have recently noticed Mireya doesn't cry when falling or banging her head and other things most children cry at. I posted a post on the RTS support group to see if anyone else had a high pain barrier and it seems people with RTS have a extremely high pain barrier. This is now so worrying for us as we really have to watch her now she is crawling cause she could really hurt herself and we wouldn't know cause she wouldn't cry.
10th June
whole week of appointments for Mireya plus nursery two afternoons.
Development, Eye test, Speech Therapy, Health Visitor
Development appointment
We went into this appointment knowing they was going to say Mireya is behind knowing that she has delayed development but intact with the syndrome and her been 10 weeks premature they said she is on target. When the doctor said this we was so happy to hear as before we have been disheartened but to hear positive things was nice for a change. They have also referred us to dematology for her skin as its gone really bad lately and referred us to council for funding for help with education in the future and any other specialist care we may need for mireya this is call protage we was happy to sign the consent form as at the moment we need as much help and support for Mireya as possible.
(Portage is a home visiting, educational service for pre-school children with additional support needs and their families. Portage offers a framework of support with regular home visits, by a trained Portage Home Visitor. Parents share with the home visitor their understanding of their child’s individual abilities and support needs.)
Eye Test Appointment
today we got to see the specialist that Mireya had check her eyes when she was on the Neonatal Unit at Doncaster Hospital he has seen another child with RTS (Rubinstein-Taybi Syndrome) so luckily for us knows what to look out for. He asked if Mireya produced tears which to our surprise we actually don't think she does. He managed to do a full examination on Mireya and discovered that she is slightly long sighted in one eye and very long sighted in the other and has give her 3 days of eye drops for her to unblock the tear ducts and will review her again in 3 weeks time. She may need glasses for the long sighted eye but didn't want to say yet as he wanted to see if these drops make a difference to her with her eyes been swollen for quiet some time now.
Speech Therapy
WOW what a session very positive when we finished our 3rd session. Mireya has become more vocal (no words just sounds) but is expressing that she is understanding the sign and understanding of MORE. this was a 6 week target for Mireya but the therapist is so happy with her progress.
Health Visitor
We have had the same health visitor since Mireya was born and today she come in and cried she could not believe the improvement in Mireya and the things she was doing since she last visited us.
Newcastle Fundraising
Myself, Braiden and families are so overwhelmed with the support everyone has given at all the events at Newcastle Town Moor. We would like to say a massive thank you to everyone that has donated prizes of raffles and auctions and to everyone that has bought raffle tickets bid in the auction and out in the donation buckets, its absolutely amazing.
There is so many individuals to name but we would like to say a great big thank you to each and every one of you.
Our beautiful little miracle is getting the speech therapy she needs NOW thanks to the Showman's Children's Charity as NHS wait is 18m which could be to late to trigger that part of Mireya's brain.
The Showman's Childrens Charity has had a lot of negativity lately and it shouldn't do cause its not only helping Mireya it is helping other Showman's Children right now as well as Mireya. Mireya is the 12th child to be helped by the charity.
Again thank you everyone for you support and kind words and offers of help it really does mean a lot to us.
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