Freya was born July 26th 2011.
There was nothing unusual about the birth apart from the delivery ended up being via C section as she was breech. She passed all the newborn checks with flying colors. They found she had a dislocated right hip but told us it was easily fixed. She ended up wearing a hip brace for 14 weeks. We all went home to start our family life together.
We first started to notice that there was something not quite right when Freya was a few weeks old. She couldn’t fix and follow any objects and she didn’t make eye contact with us. Freya did not open her hands they were always clenched into a fist. I asked my health visitor to take a look but they didn’t seem overly concerned. This carried on for a few weeks. Freya then started to have choking episodes where she would stop breathing and go blue. Twice she was rushed to hospital and once I had to resuscitate her myself. With increasing hospital visits no one knew what was wrong with her, the doctors were getting very concerned. They ordered a lumbar puncture but it came back inconclusive and we needed yet more tests. We decided to take her to a private optician so they could take a look. The optician agreed with us that there was a problem and phoned the GP straight away who then made arrangements for us to go to the eye hospital. We were prepared for the worst case scenario that Freya could be blind. The hospital organized an MRI scan.
A week later we had the results and were called in to see the neurologist. Freya’s MRI scan came back abnormal and her brain wasn’t developing normally. The day we will never forget where our lives changed forever. We had gone from our child being possibly visually impaired to our child having a rare metabolic disorder which needed further investigation. Freya had a muscle and skin biopsy which was sent off to oxford. It took months to get results and the waiting was awful. Finally June 25th 2012 we had the results and Freya was diagnosed with PDH. We were told it was life limiting condition and that children with the condition have many complications. Freya was started on the Ketogenic Diet. This diet has transformed her life. She has astounded the doctors with determination she has proved them wrong at every turn. Freya can sit, and is trying to crawl. Her vision had improved and she is even starting to reach out for her toys. She is doing amazingly well. Her favorite thing to do is to go swimming she has just gained her level 6 starfish badge. It is going to be a long journey for us but we are determined to give Freya the best possible chance she can have. Freya is too young to understand what is happening to her, but she always has a smile on her face and takes everything in her stride.