Alfie's pten journey
Donation protected
Alfie Barbour is 5 and has a pten gene mutation.
From very early in Alfie's life, it was very clear he was different. He was born with macrocephaly(large head), although other than that he was physically ok at birth. Around the time where your baby would begin interacting with you, Alfie clearly did not. There was no eye contact, no playing and he was still very floppy as if he was a young baby. As time wore on, we rightly became more and more concerned, as did his paediatric consultant.
In the beginning, he had various blood tests followed by a brain Mri scan. This was initially ok although it showed vascular spaces in the front portion of his brain. Due to this, we were overcome with worry as several life limiting conditions were queried, but in time thankfully dismissed.
We were then referred for genetic testing. The consultant had examined Alfie's history and proposed testing for a pten gene mutation, with macrocephaly already being identified which is a pten trait. After a long wait it came back positive.
Alfies lack of communicative behaviour(eye contact, speech, empathy with anybody) and other early issues finally had a reason behind them.
As time has gone by, slow progress has been made, although clinically our journey has just began.
Alfie will now undergo multiple monitoring procedures for the rest of his life.a pten gene mutation leaves the person with a high risk of developing tumours. In particular for a man, the thyroid and digestive area are at risk of developing them.
Our journey has just began clinically and we hope we get dealt a fortunate hand, although from reading stories online and speaking to other families of children with it, it may not happen.
Currently, Alfie is under,
paedatric consultant
ear
nose
throat
renal
urology
opthamology
immunology
speech and language
occupational therapy
With all this in mind, he brings a lot of joy. The one thing day to day we struggle with is his sleep. He has no consistency and is quite often up in the early hours with no chance of falling back to sleep. Recently we've been told he has very large tonsils, which may be causing slight apnea according to his consultant.
This is why as a family we've made the conscious decision to raise money for a safespace for him. With him having his own safe space, he can be in an environment which is relaxing to him and hopefully make him want to stay in and go to sleep. As his parents, we are dismayed at the amount of times he has woken up his siblings for comfort. With this space, we could go in with him and encourage him to rest, whilst allowing his siblings to enjoy a normal night sleep. In time, this will I'm sure lead to a happier and healthier life for us all.
https://m.facebook.com/Alfiesptenjourney/?ref=bookmarks
https://m.facebook.com/events/1638120083108647?id=1638130126440976&ref=m_notif¬if_t=like&actorid=678148325
From very early in Alfie's life, it was very clear he was different. He was born with macrocephaly(large head), although other than that he was physically ok at birth. Around the time where your baby would begin interacting with you, Alfie clearly did not. There was no eye contact, no playing and he was still very floppy as if he was a young baby. As time wore on, we rightly became more and more concerned, as did his paediatric consultant.
In the beginning, he had various blood tests followed by a brain Mri scan. This was initially ok although it showed vascular spaces in the front portion of his brain. Due to this, we were overcome with worry as several life limiting conditions were queried, but in time thankfully dismissed.
We were then referred for genetic testing. The consultant had examined Alfie's history and proposed testing for a pten gene mutation, with macrocephaly already being identified which is a pten trait. After a long wait it came back positive.
Alfies lack of communicative behaviour(eye contact, speech, empathy with anybody) and other early issues finally had a reason behind them.
As time has gone by, slow progress has been made, although clinically our journey has just began.
Alfie will now undergo multiple monitoring procedures for the rest of his life.a pten gene mutation leaves the person with a high risk of developing tumours. In particular for a man, the thyroid and digestive area are at risk of developing them.
Our journey has just began clinically and we hope we get dealt a fortunate hand, although from reading stories online and speaking to other families of children with it, it may not happen.
Currently, Alfie is under,
paedatric consultant
ear
nose
throat
renal
urology
opthamology
immunology
speech and language
occupational therapy
With all this in mind, he brings a lot of joy. The one thing day to day we struggle with is his sleep. He has no consistency and is quite often up in the early hours with no chance of falling back to sleep. Recently we've been told he has very large tonsils, which may be causing slight apnea according to his consultant.
This is why as a family we've made the conscious decision to raise money for a safespace for him. With him having his own safe space, he can be in an environment which is relaxing to him and hopefully make him want to stay in and go to sleep. As his parents, we are dismayed at the amount of times he has woken up his siblings for comfort. With this space, we could go in with him and encourage him to rest, whilst allowing his siblings to enjoy a normal night sleep. In time, this will I'm sure lead to a happier and healthier life for us all.
https://m.facebook.com/Alfiesptenjourney/?ref=bookmarks
https://m.facebook.com/events/1638120083108647?id=1638130126440976&ref=m_notif¬if_t=like&actorid=678148325
Organizer
Chris Barbour
Organizer
