We were tested in 1999 and genetics came back as normal and again in 2011, so we went on the Diagnosing developmental Disorders study and this was when the WDR45 gene mutation on the X chromosome was discovered. The girls were 16 when we received the BPAN diagnosis.  The twins were born at 38 weeks after 13 hrs of unsuccessful labour by C-section as Daisy wasn't in a hurry! Therefore Becky was born first by 1 min as she was behind Daisy. All seemed fine and they progressed nicely. Rebecca was slightly behind with her milestones but nothing to be worried about said the health visitor as twins were often slower to progress. At 8 months they were being weaned and had very bad constipation, which led to the paediatrician, who gave medicines and a follow-up appointment. We were seen again at 13m, where I asked about Daisy's walking as she had for some time been travelling around the furniture only one way with right leg leading and wouldn't attempt a gap. This is when I was told they were both very hypotonic and told to go and buy supportive boots to support Daisy's ankles. She walked independently immediately. We were then sent down the usual route of testing, but everything came back normal. Fortunately we had an excellent paediatrician who put lots of things in place very quickly, so by 18 months the girls had a physiotherapist, occupational therapist and a teacher who home schooled for an hour a week! At 2 yrs old they attended a special needs nursery part-time and then at 4 transferred to a full-time placement at Broad Meadow Nursery where they stayed until 6 when they moved to Tettenhall Wood Special School where they stayed until19.5yrs.  Daisy first as her history is much simpler! She walked at 15 months and learned to crawl afterwards. She babbled but just with ddddd and was able to scream very well, for most of her communication needs!!!!! She was into everything and could empty drawers, cupboards and wardrobes much faster than I could tidy them!!! She was a runner too and needed to be watched all the time!!! She would also be very happy to go off with any stranger who she liked the look of, or who had food! I was certainly kept on my toes!!! As soon as she went into a bed at 3yrs she was able to get mum up about 7 times a night on average, although she was no trouble and just seemed to need the reassurance that we were there and put back to bed. She still needs help to get into bed even now, but fortunately the "get ups "have stopped since we started her on CBD oil. She had help to walk with orthotic boots and inserts, but progressed to not needing any help. She has a global delay in all areas and severe learning disability. She has progressed nicely with words and probably has 50 in her vocabulary and has understanding within familiar situations. She can make her needs and wants known but needs assistance in most things. She used to use park equipment and liked climbing but has got physically more cautious as she got older. Both girls have sensory integration difficulties, being over sensitive with their hair but insensitive with legs and feet. As she's got older she has very cold hands and feet, as has Rebecca. Daisy also has perceptual difficulties, and does not see changes of level. Daisy is also on the autistic spectrum. She is continent, but needs full assistance with personal care. She feeds herself well but cannot use a knife. Daisy calmed down dramatically as she reached puberty and started sleeping through the night more and is now quite lethargic, she used to come home from school, have  a nap and stayed on the sofa for most of the evening like a real teenager! Until puberty the twins had always maintained the same weight and height. Daisy is now10st and Rebecca 8st.   Both girls are very fit and healthy and have good appetites and will eat most things. They are both TV addicts but even now have their faves that they watch over and over......(Tweenies, Hi 5 , Rosie and Jim, teletubbies, Tots TV, Fun song factory, The Wiggles, ,Tumble tots, singing hands)Daisy knows all these word for word and often did the actions too.  Dasy does not take any medication at present, does not wear glasses and has recently been diagnosed with polycystic ovaries.Daisy is a very happy kind caring and loving girl who loves to help and feel useful. She puts Rebecca's needs before her own and is a daily delight! She makes us all feel so loved and makes us smile or laugh all the time - she's an absolute treasure and we love her dearly, as anyone who knows her does. We are so lucky to have her and feel very honoured to have her in our family. Right, I'll start Rebecca's story now! Rebecca was a very calm, contented toddler and child who was happy with whatever she was given and did not seem motivated to move. She loved books and would sit for hours turning pages and vocalising. She also had Daisy's communication scream and could vocalise lots of letters, but when she communicated with Daisy just used dddddd like she did. She began travelling around furniture and pushing wheeled toys at 4 and like Daisy did not crawl. She took a few independent steps but was stiff legged and nervous. She developed epilepsy at 3ish which started as little "hiccups" but over a few years worsened to big myoclonic jerks that exhausted her and seemed to be worse with tiredness - so a cycle of epilepsy seemed to take over Rebecca and she seemed constantly exhausted. We tried several anti convulsant to no avail, and as anyone knows who has gone through this, each drug has to be gradually increased, tried ,then weaned off, if it doesn't have any effect so the end result is the fits continue taking their toll on the victim - its heart-breaking to see. Then a chance conversation with our pediatrician became a miracle. We were discussing the ketogenic diet as Rebecca's fits seemed better if she had a tummy bug and didn't eat. I didn't want to subject her to the diet and said it was a shame they couldn't invent a drug that would mimic the diets effects and she said there was a possibility with a drug called Acetazolomide so I asked if we could try and within 3 days she was fit free and my lovely daughter came back !!!!! She continued the low dose of Epilim she was on previously and has been fit free ( bar 2 incidences when we tried to lower med doses) for 10 years. We did conductive education for many years firstly at Penn Hall School then at Megan Baker House which helped Rebecca's mobility no end and at 11 she learned to crawl, her first independent movement ! She loves the freedom! Oh and I forgot to say that both girls swam  at school, Daisy has her 50 metre badge and Rebecca her 20 metre badge. They also both been horse-riding with Riding for the Disabled for 10 years and went Disabled bike riding weekly for 10 years too. As Rebecca grew her walking gait became more flexed and pronated and she has needed increasing help from orthotics to keep her upright. She leans forward and holds on to an adults hands but still manages to get about the house without her wheelchair. She even pulls herself up the stairs with an adult steadying her from behind. She wears GROs up to the knee and also has full length callipers which she loves to walk in. These give her a really good posture. She did wear a back brace for a back scoliosis which at present is at 52 degrees. Oh both girls have a weird curled over second toe! Rebecca had a Mulholland walker which she used at lunchtime at school and a Mediotech balance trainer at home which she spends an hour a day in - also a fave activity!!! Oh and she has contracture correction devices for her legs which she sits in at home for an hour, as well as a stretching programme carried out daily between school and home!!!! ( think that's why she is lighter than Daisy- she's never still - and that's the way she likes it! )other Rebecca stuff! .......She is non verbal but certainly not non vocal!!! She is very good at getting her wants and needs met by vocalising , eye pointing, reaching or choosing. She is such a good manager that we all realise we are doing just what she wants ! In fact Daisy's good at that too!! (Daisy has us all on her autistic timetable so the boat isn't rocked!!!!!)  Rebecca occasionally still does "hand regard" she's a teeth grinder( yes I know!!!!) very sensory- likes massage and a foot spa, has a high pain threshold, wears glasses for short sight and astigmatism, is continent, needs full help with all aspects of personal care dressing feeding etc. She gives great eye contact. ​She has had uncontrolled jerks in her left hand for a couple of years, which seem to be getting worse.  She sleeps in a Symmetrisleep to help her back and hip which was slightly out of socket. She has 4 impacted wisdom and 1 canine - we have a saying in our house that if its going to happen it usually happens to Rebecca poor soul! Rebecca is such a strong resilient young lady that is full of fun, mischief and so so happy. She is strong willed, has a great sense of humour and is a lesson to us all. We are so lucky to have her and every day we are thankful that she has come into our family. We love her so much!  ​ The girls are now  27 years old so a quick update may be required! Rebecca has  remained pretty stable, still on the same meds. Over the years she has become very gradually less physically active and fidgety, but still uses her contracture correction devices, KAFOS and balance trainer daily along with a stretching program. She now uses a grillo walker at day ops. At 25 years old she has learned to say mum and now says wee when sat on the toilet! After leaving school both girls went to a specialist college in Shrewsbury.....Condover college as day students for 3 years. Unfortunately their last year was cut short by Covid 19 lockdown but they now attend the college day opportunities program for 4 days per week which they love. This gives them continued access to physio, hydro, and speech therapy which is fantastic! For Daisy the big change has been the onset of epilepsy 😔 She has focal seizures which present as a series of very short absences and slight right arm jerk. Her medication consists of Acetazolomide, cenobamate and lamotrigine to control her seizures, which has been effective. She also developed high anxiety and would get very stressed, hit her head and scream. We have her on a low dose of sertraline which has been very beneficial.  ​ I think Daisy has shown some regression in her walking stability and is now even more clumsy and sometimes her right leg gives way and sets her off balance so our physio has developed a daily program to help with balance and muscle strength.