As most of you already know our gorgeous little girl Penelope, age 4 years, has a very rare chromosome disorder called 8P Inverted Duplication and Deletion Syndrome. It is so rare there have only been around 65 literature cases reported worldwide. As a result of this Penelope suffers from hypotonia (weak muscles), global developmental delay, a learning disability, speech delay or absence, she has structural anomalies of the brain, and could later develop hydrocephalus (an increase in cerebrospinal fluid within the brain), heart problems, spinal curvature, contracted joints, hip dislocation, epilepsy…the list goes on. She has had a couple of seizures when she has been really ill and can’t regulate her own body temperature. She still has sleep issues and we are awaiting results from The Evelina Clinic (part of St. Thomas’ Hospital) in London following a sleep study to hopefully find the reason as to why she is waking up to 12 times a night. Penelope is currently non verbal so she is unable to tell us when she is hungry, thirsty or in pain. Penelope cannot do most things that as parents we take for granted that our kids will be able to do, and this breaks our hearts.

We set up a crowdfunding page last year and successfully raised enough money to get Penelope to the NAPA (Neurological and Physical Abilitation) centre in Los Angeles for intensive therapy which led to some incredible results. We went back this year and saw her make even bigger leaps so we are desperate to get her back there for some more amazing therapy. I have kept this page open so that together we can make a difference to little Penelope’s development and to help her become the best she can be.

On Day 1 of our 3 week intensive at the NAPA Center we proudly watched Penelope telling us all off and standing (with assistance) during the first couple of hours of her intensive therapy. NAPA is the most amazing place that I have found on Earth and I cannot thank them enough for what they have achieved. Equally I cannot thank each and every one of you who donated to help us get there in the first instance. Penelope has made the most gains I’ve ever seen her make in a short time period on both occasions. For example last year following therapy Penelope started weight bearing and stepping in a supportive walker. This year she has been able to hold on with those little hands which she never used and push a less supportive walker, talking steps so we are now in a walker which is just a frame and wheels! I still have to hold on to it so she doesn't push it too far forward and fall on her face but with a stronger core I'm sure she will be able to do it herself.

We just need to get her stronger before her brain stops creating those new pathways. They say this generally happens by age 6.

NAPA do not have a magical cure for 8p Inverted Duplication and Deletion Syndrome. Penelope didn’t stand up and take off walking or running on her own or anything. But, she learned how to move her legs on command while on her tummy (she hated being on her tummy) and later in a four point kneeling position. Penelope began to transition from laying down to sitting up with just a finger or two on her hip for support. And she also started to take consistent steps in a gait trainer. She would lock her knees and not step before NAPA. Her arms were so weak I couldn’t hold her hands and simply walk her. She couldn’t play with her toys using her hands. But now I can hold her hands and step her from the car and down the corridor to school, the best news though is that she is very happy doing this and is showing the will for more independent stepping.

We would like to raise enough funds to go back to the NAPA Centre for the second follow-up programme this year. The intensive was 4 hours of therapy a day for 3 weeks. The 4 hour therapy was broken up into 4 one hour segments: Cuevas MEDEK Exercises (CME), 2 hours of Neurosuit and an hour of Speech and language/feeding therapy. The Neurosuit helped Penelope feel her body against gravity, hugging her body, putting it into proper alignment, provided resistance against certain movements, and gave her more awareness and good feedback to her brain. CME is a physical therapy approach focusing on improving motor skills of young children with physical disabilities & movement disorders. During CME, the therapist physically manipulated Penelope to train the muscles in groups. These manipulations eventually would lead to the Penelope gaining control over her trunk, which is necessary to perform basic gross motor activities such as sitting, standing, and walking. We saw huge results here!

On the first day, each therapist asked what our specific goals were for the three week intensive. We told them the main thing we wanted Penelope to work on was core strength, getting on her feet, walking (well actually I asked if she could run in the next marathon, they said that at the age of just 3, she was probably a little too young!!) & floor transitions – laying down to sitting, sitting to four point, four point to kneeling, etc. My reason for these goals is that I really want Penelope to have more independence while on the ground and to start building muscle on those skinny little legs so that she can hopefully one day just stand up and take off!

For each block of therapy throughout the intensive, Penelope worked on a series of movements that were repeated a number of times every day to help her body and brain remember that movement pattern. Then, at the end of the three weeks, each therapist sent us home with 2 to 3 exercises each that we needed to do daily as a home exercise plan.

Because NAPA is such an incredible place, its intensive schedule gets booked up very quickly. We won a very competitive registration race to secure Penelope her second place this August all we now need is the funds to put down a deposit to not lose the place!

We also pay for as much private therapy as we can here in the UK. On top of what Penelope receives on the NHS (which really isn’t very generous and is always always not provided without me having to put up a fight) we are fitting in 2 to 3 private physiotherapies a week which is costing up to £180 a week.

You probably think that this seems like a lot of therapy but research suggests that children like Penelope have until the age of 5 to hit really big milestones and until age 6 for the brain to build new pathways around the ones that are not working so well. Early intervention is key and I’m trying to make up for the first 2 years we lost due to doctors not taking my concerns on board and a very late diagnosis. Penelope will be 5 years old this August, so I have a good year to get her to reach the biggest milestones. Of course I am also aware that she may not meet all or any of the bigger milestones but we have to try and I will never give up trying to help Penelope be as independent as possible and to be the best version of herself. I strongly believe that if I sat back and just accepted the therapy available on the NHS Penelope would not even be sitting independently let alone taking steps with support by now. It is because I am fighting and pushing and have also essentially turned into her personal physiotherapist that she is progressing and because of all the big generous hearts that have donated and helped get Penelope the therapy that she needs so far.

Due to Penelope's condition, as her mother and full time carer I have been unable to return to work. As a family we are trying to do everything possible but we are under significant financial burden due to our loss of income and Penelope's additional care requirements. It is not easy asking for help but we are trying to do everything that we can to enable Penelope to walk independently and be as mobile as she possibly can.

If you feel that you are able to make a small donation to help raise the funds that we need to help Penelope walk and be more independent, we would be forever grateful. Thank you so much for taking the time to visit and read our page. Please share far and wide!

Love Stella, George & Penelope xxx