We are Rare

28th February is Rare Disease Day and I don't just have one child who is rare but instead I have two children who are rare for different reasons.

As some of you will know from reading this previous post that we were called in to see Roo's genetic consultant who informed us that the research study we were on had found a mutation in Roo. That mutation was RAC1. While we were excited to find out that after 4.5yrs on a study that we may get a diagnosis , we soon realised that in reality it wasnt that simple.

Yes a mutation was found
Did it give us answers? No
Did it raise more questions? Yes
Did it have a name? No
Was it rare? Yes
Could they give us a prognosis? No
Will they research it? Yes
Do they know if it caused Roo's issues? No

As you can see, getting an answer doesn't necessarily mean an answer. Its often so rare that there are no support groups, and this is where SWANUK comes in. Even though the DDD study found something they cannot say if its the cause of his issues, so he remains undiagnosed until they do enough research & more children are found with the same mutation. As well as this Roo has also has the diagnosis of Idopathic Intercranial Hypertension which is quite rare especially in young children. He went into remission but there have been some concerns that its coming back but we are keeping a close eye on it and undergoing tests to rule it out.

Along comes his little sister Faith, & when she started to show similar delays to Roo red flags went up with gp and hv insisting on referrals to Roo's paed. We then found out she was profoundly deaf and her community paed helped us on the road of starting hearing aids & getting the proper support in place. While she was delayed it was agreed that it was no where as bad as her brother's was so there was some relief...then genetic testing was mentioned purely because as well as being deaf Faith had two different coloured eyes. At 14mths old she was diagnosed with Waardenburg Syndrome which explained her deafness and her unique eyes. WS occurs 1 in 40000 so its quite a few people but is still classed as rare. There are 4 different types and Faith has type 2 which is more common than type 3/4 . It basically means she has bilateral sensineural deafness, different coloured eyes, sensitivity to the sun so she needs to have factor 50 on to protect her otherwise she burns very easily. She may show more symptoms as she grows who knows. It also turns out that I passed the mutation to her and due to the fact I am deaf myself and have white hair which is one of the symptoms its likely that I too have Waardenburg Syndrome. A quick research into family has discovered distant family members having variety of symptoms mentioned above as well as albinism which is another symptom so it looks likely its been in the family for several generations unknown to us.

Its so important to raise awareness about rare diseases to the world as it enables research to be carried out so that they maybe can find treatment to help those that need it, to give answers that many families have been waiting years for, to help them get an idea of what the future holds.

Since being told that Roo's mutation is extremely rare that there are only 7 other children with mutations on that gene but in different places so they are all different in the way they present their issues we have been left in limbo. They are writing a research paper on Roo which they hope will give us the answers we seek and since being told this I keep wondering if this is the day that the postman finally brings the answers we have searched for since he was born but each day brings nothing...its such a long journey and so hard living in the unknown. Im so thankful that at least we have a proper diagnosis for Faith & know what it means for her future wise.