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Being a PURA Dad

May 14, 2017

On the 8th of September 2011, my world changed forever. Never did I expect to have a child with special needs. However, my little Lily decided to be a 1 in 5.295 million baby….. the population of Scotland at the time!

 

Those first few weeks were so stressful. In and out of the Special Care Unit as Glasgow’s Royal Maternity Hospital. Being told Lily was a “sleepy” and “floppy” baby just didn’t ring true for my wife and I. We knew there was something different about Lily. After months of tests and appointments, in 2013 our wee family was put forward for a genetic study by our consultants, the DDD Study in the UK. We were told it may yield results or it may not….. that was tough to take but low and behold, 2 and a half years later, we get a call. In November 2015 we were asked to visit out local Geneticist as they may have something! Lily was given her diagnosis of PURA syndrome.

 

 Lily just took the diagnosis in her stride, such a rare genetic condition only first reported in medical literaure in 2014. There were so few diagnosed cases at the time, around 45 If I recall correctly! As a Parent, how do I process that information?

My wife and I had so many questions but didn’t know where to start!

What would Lily’s future hold?

What effects will this have on her life?

How do I help her on a daily basis?

Who do I talk too?

 

My brain was going into overdrive and as the condition itself was still so new. There wasn’t an awful lot of research or answers available for us to check out.

 

One of the best things I found out about was the family support group set by families for other families! Sometimes us Dad’s are not great about talking about our feelings, so knowing there were other dads out there really helped me. I remember my 1st conversation with another PURA Dad like it was yesterday. I remember coming away from the conversation with a new sense of confidence that only speaking to another dad who is going through what I was going through can do!

 

I know there will be challenges along the way and from my point of view that scares me but knowing there are people out there to offer advice really helps. I am incredibly thankful for an incredible family and a phenomenal group of friends who can try imagine what you're going through.

 

That's enough about me, now onto Lily. Lily is a wonderful little person! A beautiful daughter, a loving big sister, a fun loving cousin. She just loves people! Lily is non-verbal but we know what she wants! I love going through this communication journey with her and it's the little things really make me so proud! I quickly realised that the typical goals a child should achieve may not come to Lily, but do you know what…. that doesn't bother me…..

Lily makes her own goals! Seeing how determined she is really inspires me (I am not just saying that as a proud father I really do mean it!)

 

I have learned so much from her and so much about myself. You may have hear that old saying, “If at first you don't succeed….” How apt this has become I our household. I can watch Lily try to figure out how to open a door or watch her just manoeuvre around the house for hours. As Lily's needs have changed, so have her goals. Yes they may be a little less complex, but do you know what they are just as important to her own independence.

 

Life's not always a ray of sunshine for Lily but there is one thing that never changes and it is my little girl's attitude. She doesn't treat anyone differently, She doesn't hold any grudges, She is just Lily! Such a beautiful, cheeky little person who I am so proud of.  A person who I know will lead the life she wants.

 

I would like to finish with a little story about Lily that I love to share with people….

 

We recently celebrated the birth of our second child, Lily’s little brother James. Everyone was so happy to meet James for the first time but I made sure the first person to meet him was his big sister. I knew everyone else would be gentle and very tentative around him especially as he was only hours old at this point. Not Lily, she just wanted to hug him, squeeze him and even kiss him…… well a kiss from Lily means an open mouth being placed gently upon you!

 

Lily never stops but this day she was different, She knew she was a big sister and she just stood beside James crib for about 20 minutes and just watched him, it really was a special moment to witness

 

What I am trying to say is no matter what is going on in your life, take time to appreciate the little things.

Hold onto them.

Treasure them.

Because I've learnt how important it is.

 

Andy 

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The PURA Syndrome Foundation is a registered 501(c)(3) charity organization. Information on this website is not a substitute for personal medical advice. Families should consult a medically qualified physician in all matters relating to genetic diagnosis , management, and health . Information about PURA and genetics in general is a very fast moving area and while the information on this website is regarded as the best at the time of publication , some facts may change later .