Let’s get Ivy rose a trike
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As many of you already know Ivy-Rose has Phelan-Mcdermid syndrome.. a rare disease that affects just over 2000 in the whole world. Phelan-Mcdermid syndrome is a deletion or mutation on chromosome 22q13.3..
Ivy-Rose has a deletion of 8.46mb, which is on the high end of the scale as the deletions vary from 0.22-9.22mb. Phelan-Mcdermid syndrome can occur randomly (de novo) or be inherited from a parent who carries a related genetic change. In our case, were not sure whether myself or Andrew have the genetic change, or if Ivy-Rose has PMS just by chance. Having blood tests to find out is something we are going to look at in the future, it just hasnt felt like the right time yet. Ivy-Rose is non-verbal, significantly delayed in her development, tube fed, suffers from seizures, is unable to regulate her body temperature, has hypotonia (low muscle tone), dystonia (a movement disorder) and more. Ivy-Rose also has some of the physical features that present in people with PMS such as long eyelashes, full eyebrows, puffy hands and feet, pointy chin. Although with PMS it is not said that it lowers the individuals life expectancy, we do not know what Ivy-Rose's future looks like. We have had moments where we have felt like we were very close to losing her, but she is a strong girl, who has brought us so much joy and strength and a whole new perspective on life. We aim to make her life as fulfilled and happy as possible, to give her every experience possible. To make her feel like the most special girl in the world. We hope that she feels nothing but love every single day. We do not know whether she will ever develop milestones such as sitting independently, crawling, walking and the likelihood of her ever talking is very very unlikely. But love is shown in more ways than just saying "I love you". And although Ivy-Rose is registered severely visually impaired/blind, her eyes tell us more than words ever could. They sparkle unlike anyone elses I have ever seen. We count our blessing every single day to have such a special girl in our lives. I couldnt love her anymore if I tried. Our rare little beauty♡
Ivy-Rose has a deletion of 8.46mb, which is on the high end of the scale as the deletions vary from 0.22-9.22mb. Phelan-Mcdermid syndrome can occur randomly (de novo) or be inherited from a parent who carries a related genetic change. In our case, were not sure whether myself or Andrew have the genetic change, or if Ivy-Rose has PMS just by chance. Having blood tests to find out is something we are going to look at in the future, it just hasnt felt like the right time yet. Ivy-Rose is non-verbal, significantly delayed in her development, tube fed, suffers from seizures, is unable to regulate her body temperature, has hypotonia (low muscle tone), dystonia (a movement disorder) and more. Ivy-Rose also has some of the physical features that present in people with PMS such as long eyelashes, full eyebrows, puffy hands and feet, pointy chin. Although with PMS it is not said that it lowers the individuals life expectancy, we do not know what Ivy-Rose's future looks like. We have had moments where we have felt like we were very close to losing her, but she is a strong girl, who has brought us so much joy and strength and a whole new perspective on life. We aim to make her life as fulfilled and happy as possible, to give her every experience possible. To make her feel like the most special girl in the world. We hope that she feels nothing but love every single day. We do not know whether she will ever develop milestones such as sitting independently, crawling, walking and the likelihood of her ever talking is very very unlikely. But love is shown in more ways than just saying "I love you". And although Ivy-Rose is registered severely visually impaired/blind, her eyes tell us more than words ever could. They sparkle unlike anyone elses I have ever seen. We count our blessing every single day to have such a special girl in our lives. I couldnt love her anymore if I tried. Our rare little beauty♡
Organizer
Sue Gilbert
Organizer
