This is my beautiful niece Harlow. She is the eldest (however the smallest) of my sister and her husband's 4 young children. (Harlow 6, Parker 5, Oakley & Hartley 3).

Harlow was born full term at a perfect weight of 7lbs2 on 5th October 2017. There were no complications or health issues, and as far as we were aware at the time she was completely healthy. At 5 days old she had her heel prick test which came back inconclusive to which she was then re-tested and given the all clear. The reason I mention this is that we always wonder if this was the first sign that something was not quite right. Harlow was always very chesty and congested and grew at a very slow rate but there were never any concerns from the health visitor or Doctor's.

2020 came lock down. We were sent a video from Harlow's nursery in the garden playing with her friends and we noticed how small Harlow really was compared to the other kids her age. This prompted her Mum and Dad to get Harlow assessed at the Doctors who referred her to the hospital for further testing. This opened a massive 'can of worms' where it came to light that Harlow was considerable small for her age and had early stage kidney failure, they also confirmed she had a very narrow rib cage. We are now 4 years down the line and after working with many different teams at various different hospitals it has been discovered through thorough genetic testing that Harlow has an incredibly rare genetic condition (a form of skeletal Dysplasia) that seems to have never been discovered and has no name. We have been told we are 'riding the Harlow train'.

What we call 'The Harlow Condition' is currently an unheard form of skeletal dysplasia (S.D) where her long bones are shorter than they should be and her rib cage is very narrow. It affects Harlow's overall weight gain & growth and could potentially affect her lung maturity. Harlow is also being treated for a really rare lung condition called PCD. Her S.D also comes with Hyperextension, deterioration of her sight, loss of hearing and organ failure which at this moment in time her kidneys are the biggest issue and she is at the final stages of kidney failure. Her mum/my sister has just been approved to be her donor, this is likely to happen in the near future and is a very lengthy recovery process which will have a huge impact on her whole family. With 3 younger children to also consider it's going to be a tough time and as a family we want to try and make this as easy as possible but with all of us working full time jobs and my sister having to take time off work to recover it's not going to be easy. At present Harlow is in and out of hospital frequently attending many appointments with around 10 different medical specialists and on 10 different medications with 3 of those for her blood pressure alone. Harlow also suffers with a low immune system, finds walking very uncomfortable and gets out of breath doing any physical activity's, as a result of this she is not a very active little girl and tires easily. Due to poor eating and drinking habits Harlow has had to recently have a feeding tube installed to make sure she stays hydrated and gets as much goodness and calories as possible.

We have been told various things to potentially expect with Harlow but the medical professionals can't say for sure what her future holds as they have no one else to compare her to and she is her own 'Guinea Pig'.

As you can imagine this was all a massive shock for the whole family and it is not something we ever expected, especially to be told that what Harlow has is so rare that it does not even have a name and they do not know of anyone else who has exactly what she has.

Among juggling the many hospital appointments, and my sister (Melanie) trying to care for her 3 other children, one of the hardest things is not knowing or being able to prepare for what may be yet to come. So, for this reason we would love to raise money not only to support my sister and her family in the tougher times but also to raise money for research in the hope to discover more about Harlow's condition and we would also like to raise money for further research into the potential discovery of a new way of testing for PCD (Primary Ciliary Dyskinesia: a rare lung disease that causes scarring of the lungs) for people with S.D. As although Harlow is being treated for this as she displays the symptoms of PCD, due to her skeletal dysplasia her lung testing constantly comes back inconclusive.

My sister and I will be taking on the 3 peaks challenge July 2024 to help raise money and awareness. Any donations will make a massive difference into finding Harlow's future and be extremely appreciated. We will keep you all updated with posts and photo's along the way :-)

Harlow's Aunty Abi x