Walking With Giants Foundation
Supporting Individuals and Families Affected By Microcephalic Primordial Dwarfism

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Charlotte with Dad (Scott) August 2010

Charlotte was born on the 19th August 2007 by emergency cesarean section weighing 1 lbs 11 ozs and a month early, she was about 8 inches in length. We couldn't believe how small she was. I had seen pictures of premature babies before but Charlotte was extraordinary small at the time I wondered if she was going to survive but she was strong and wanted to be here.

Right after the birth she was taken straight to Special Care Baby Unit were she was fitted with a naso-gastric tube so she could be fed as her mouth was to small to suckle and all the teats were to big for her. She also had a long line put in so she could have the medicine and fluid she needed.

During this time no one mentioned or knew she had Primordial Dwarfism. She was just a premature baby and needed to develop.

Charlotte spent 2 weeks in the special care unit before being moved to a side room where she spent a week before being moved to the nursery. While she was in the nursery they got her off the NG tube and on to bottles which was amazing to see as we never thought we would see her drink from a bottle. She spent another 10 weeks in the nursery before being allowed home, when she came home she weighed just over 2 lbs at 13 weeks old.

We were over the moon that she had finally come home. However our happiness was short lived. A week after being home she started refusing her bottles. She would only take 5 mls of milk before violently vomiting and choking. We had to resort to feeding her small amounts through a syringe. After 3 weeks of this routine we had to go back into hospital for a NG tube to be fitted again.

When Charlotte was 8 months old she came down with a tummy bug which was nearly fatal. She was so dehydrated and lost nearly a pound in 24 hours, she was very close to death and spent 3 weeks in hospital.

During these first 9 months it was hard for us as apart from worrying if she was going to survive or overcome her initial medical issues we also knew there was something else wrong with her but no-one could tell us what is was or even why she was not growing. It was only after my sister saw a program on TV about a young boy called Alex Connerty from the UK who had been diagnosed with a very rare form of dwarfism called Primordial Dwarfism and met other children like him in America. My sister thought that some of these children looked like Charlotte and also had some of the same underlying medical issues.

My sister contacted the Walking With Giants Foundation and from that day things started to fit into place. The Foundation helped us get us in touch with doctors on their medical review board. After reviewing her medical records and pictures they suspected that Charlotte had a form of Primordial Dwarfism, it was to early to say what type yet but they were sure that she had PD. The WWGF put us in touch with other parents within their family network and things became more clear for us.

During October 2008 we attended the first WWGF convention in Liverpool, we got to meet other parents, children and siblings affected by Primordial Dwarfism. That first convention left us with many wonderful and happy memories. We had 5 days filled with knowledge, entertainment and understanding. We didn't feel isolated, we know knew Charlotte was not different she was just unique. Seeing children similar to Charlotte thrive and overcome the many hurdle they faced made us even more positive. What is wonderful about the WWGF is that they do not just support the individual directly affected by Primordial Dwarfism they support brothers and sister to (mums and dads to)

With all this new found knowledge and support we were able to advise our own doctors about the Primordial Dwarfism and things started to become more clear on the medical care and support she needed.

In April 2009 Charlotte got a gastrostomy peg fitted which helped with her feeding regime. We were relieved with this but most amazing thing for us was we were able to see all of our beautiful daughters face once again without it having plasters and tubes on it. However whilst they were performing the surgery on her stomach to fit the peg in they found a problem with her liver. They explained to us that Charlotte had a condition called Caroli's Disease. This is a rare disorder where the bile ducts inside the liver become enlarged resulting in infection, irritation and gallstones. It means that she will be on medication for the rest of her life to control the disorder.

Those first two years were tough for us as a family. All mine and Scott's (Charlotte's) time was spent caring for Charlotte in and out of the hospital. Our other children where superb, they knew Charlotte needed this attention but as parents you are always aware that they needed attention too. We coped and things seem to settle down or as most parents with a child with special needs would say we just got on with it. However it was made easy knowing that the WWGF or the other Primordial Families were on hand to give moral support.

In August 2009 we attended our second WWGF convention. That year was even better than the first and longer. The WWGF even laid on a surprise birthday party for Charlotte. We got to meet new families (UK, Germany, America and Spain) and connected up with all our friends from the previous year. It was good to meet up again as you can see the children PD and Non PD bond and enjoy themselves. It's funny as during the first year we as parents were receiving advice and support from parents but during this event we found ourselves giving advice to some of the newly diagnosed families who were attending for the first time. It was rewarding for us as it was our way of giving something back.

By the end of the 2009 we seemed to get over all the little hiccups in Charlotte's life, we knew they were not going away and dealt with them in a positive way but in January 2010 during a routine assessment we have found out that Charlotte has a cyst on her brain. Our world was turned upside down we knew that this was serious, more so if it was related to the primordial sub-types MOPDI or MOPDIII, as this is an underlying medical condition.

We had many assessments on this issue and our Neuro Consultant advised us that as this was not affecting her at the moment and due to her smallness they would not perform any surgery but they will monitor it with regular yearly MRI scans and make a decision when they deem it necessary.

Throughout the next 5 months our main aim was to help Charlotte develop and we and her sisters spent hours everyday encouraging her to play. She loved the attention and in her own little way soaked everything up. Her feeding is not an issue apart from she was constantly being pump fed 24 hours a day.

In may 2010 we found out that Charlotte is a carrier of haemophilia A and she has a low factor 8 which means she has a problem with her blood clotting which is not a good thing as she cant have any surgery without having medication first but we will cross this hurdle as and when a surgical situation arises.

In August 2010 we attended the Annual WWGF convention once again. It just seems to get bigger and bigger, more to do, more to enjoy and Charlotte is starting to enjoy her time there. We cannot wait until she can properly interact with the other children as we know she will have a whale of a time. We got to meet more new families, this time families from New Zealand, Canada and once again America, along with a new family from the UK and Ireland.

At the time of writing February 2011, Charlotte is 3 years old, she weighs 8lb 4oz and is 64.2cm tall. She goes to nursery 2 days a week, which she really enjoys . She is a happy little girl despite all the problems she has been through and has yet to go through but she is always smiling which makes us smile because she must be happy.

Emma and Scott - Charlotte's parents (UK)
February 2011

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