The story of Mollie
Hey everyone I thought I would make a page for mollie to make it easier to follow my beautiful girl on this journey she now has to start🩷 Please if you want to see mollie thriving follow this group and help with your positivity and hope as we need this to keep her going and ourselves😊
So far our little miracle is flying through with only having enlarged kidneys which are 8cm and a normal babies size is 4cm. Mollie is got high blood pressure and currently on blood pressure medication to control this as it suppose slows down the progression of ARPKD. Not every case of ARPKD is the same. Every child has their own story and journey. This is mollies. She is brave as she has been silently fighting this horrible disease and nobody knew until a few days ago. Our girl is just unbelievably amazing. Most babies who have ARPKD end up with under developed lungs and need help with breathing shortly after birth! Mollie was born natural birth usually sections are needed but nothing was picked up on my pregnancy which indicates again mollie isn’t got the severe case of ARPKD. Mollie was born and thriving we were all unaware of what was actually going on with our girl. We are as a family heartbroken it’s really difficult but we have to be strong for mollie and be brave as she has been strong and a little fighter since being born. Breathing on her own perfectly and doing everything a baby does even when she has been struggling and nobody knowing what was going on. Her lungs appear fully developed and working as no sign of struggle 🤞 We hope this continues. Mollies kidneys are slightly larger at this stage however they are doing there job perfectly and we need them to continue to do this. Liver appears to be bright on scan but function is doing its job. We want our girl to really surprise us as a family and all the doctors as she has came so far on her own fighting a battle nobody knew about until now. This is what you call strong!!!! We can do this baby girl we are all behind you waiting for you to keep thriving and beat all the odds and live as normal life as you can safely🩷 Doctors are really pleased with mollie just now and we got discharged after 4 days in hospital trying to control mollies high blood pressure. Huge weight gain also in only 4 days UNBELIEVABLE!!! We have our first renal clinic on 1st February for follow up bloods and to meet other specialists on mollies team and our own renal specialist nurse👩⚕️ After having some time away from hospital slight high blood pressure but need to let medication work. Also bloods show kidneys and liver function to be pretty much the same as it was and no bad news 🙏
Swollen tummy and high blood pressure won’t stop my girl as she is itching to play with her toys and loves watching gabbys doll house! Trying to roll over and attempting to crawl hopefully this happens soon🥰
Here is a short story of my girls rare disease💔
Mollie has been recently diagnosed with Autosomal recessive polycystic kidney disease (ARPKD). ARPKD is a rare condition affecting 1 in 20,000 live births, boys and girls equally. It causes enlarged kidneys (with or without cysts), liver enlargement and high blood pressure. ARPKD causes cysts – sacs filled with fluid – to develop in the small tubes of the kidneys. These tubes produce and transport urine. ARPKD also causes problems with the liver, including the formation of cysts, scar tissue (called fibrosis), and a swollen bile duct. The bile duct is a tube involved in producing and transporting bile, a fluid that aids digestion.
Although ARPKD affects the kidneys and liver, the immediate risk to about a third of babies born with the disease is lung under-development. This can make it difficult for your baby to breathe and mean they need emergency breathing support from a machine (ventilation). Over time, ARPKD causes damage to the kidneys, stopping them working properly, and eventually leading to kidney failure, often during childhood or young adulthood. It can also cause complications in the liver and bile duct, such as infections.
ARPKD is a genetic condition caused by a fault – often called a mutation – in a gene called PKHD1. We all have two copies of the PKHD1 gene, one from each of our parents. ARPKD occurs when a child is conceived from parents who both pass on a faulty copy of the PKHD1 gene. Very uncommonly, it can happen when a new mutation occurs in the PKHD1 gene, which means that at least one parent hasn’t passed on a faulty gene.
Both parents are carriers, the chance of a child inheriting the faulty gene from both parents (and therefore having ARPKD) is one in four (25%). If the child receives only one copy of the mutated gene, they won’t have ARPKD, but will be a carrier. This pattern of inheritance is called ‘autosomal recessive’.
We are still awaiting on mollies genetic testing results to confirm this is the ARPKD this takes a couple of months. Still 4 and half months old and fighting this with no struggle at all. Rare disease and brave girl we have 🩵🩷