The realisation that a diagnosis doesnt always give you answers

"The DDD study have found a result for Reuben"

As soon as I read those words it was as if time stood still, everything around me seemed to slow down, fade away. I gasped and re read the words over and over before saying "OMG" to my husband. Puzzled he asked what was wrong and I told him what I had just read, disbelief, confusion, & curiosity all showed on his face as I read out loud the email that I had just received from the genetic consultant. We just stared at each other before all the questions started coming out... we had been searching for answers since he was 11 wks old...6 yrs of test after test with normal results or abnormal results that left consultants scratching their heads as it made no sense, 4yrs 5 mths on the DDD study we had started to give up hope that we would ever get answers but now the answer was within reach.
Fearing a long wait as we know of others who have been in  this situation only to have to wait weeks/months to hear the results we waited for the letter to come through with an appointment but the following day I then got an e-mail asking if we could possibly see them as soon as possible so an appointment was made for 7 days time 
That was one of the longest weeks ever.

Finally the day of the appointment came & the consultant did the usual hello's and introducing us to another member of staff who was there in the meeting. He started of by saying " it's both good news and bad news" ...for a split second you stop breathing & various thoughts about what could be bad news start racing through your mind... then you start breathing again and all calms down enough for you to focus on what he is saying. 

The good news was that the mutation they found in Roo was a de novo meaning that it spontaneously happened in Roo, it wasn't passed down by myself or my husband. In that instant I no longer felt guilty as its something I've felt for a long time & even blamed myself that it was something I must have done when I was pregnant (read this post it explains the guilt). I now knew that no matter what Roo would still have been born the way he was, nothing would change that. This also meant that our children didn't need to be tested for they would not pass the mutation to their children when the time came for them to start their own families.
Then came the not so good was so rare that it had no name, it was something new that they hadn't seen before. 


That's what Roo has.... not a name, just letters and number. There are various mutations related to this but so far only 1 other child has been diagnosed with the same exact mutation at the same exact point as Roo. This means they cannot tell us a prognosis at this moment in time, they cannot tell what the health implications of this mutation could cause, they cannot explain why its caused Roo to have all the issues he has, they are unsure if the white matter changes on his brain is related to this. He told me not to Google as the information out there wasn't clear and they are unsure the relevance to the delays. 

Ask any parent to a Sen child - we always Google regardless of what we have been told. So I did Google afterwards and that particular gene mutation is often related to cancer. I stopped googling...there just isn't enough information published yet.

The consultant then explained that there was a doctor from Manchester who is researching into this gene and he has asked for photos of Roo as well as his medical notes which we had to sign to agree to and he is publishing an article on all the children who have mutations in RAC1 and once that is done they may be able to tell us more about the effects, implications etc. We now have to wait for this article to be published and the consultant will send us all the information to help us understand the condition more. Meanwhile we remain in the DDD study as they continue to study all of our genes in case something else is found and the consultant will keep in touch with us as soon as he hears more about it. It's a case of more waiting I guess.

You wait so long for an answer and when you are finally given one it doesn't give you answers. I think we all have high expectations that when they find out what's wrong that it will give all the answers, give you an idea of what the future holds , know about possible health issues etc but when the time comes its nothing like that. Maybe if our expectations were lower we wouldn't feel like what we feel now - disappointment in that it isn't really an answer, isolated in that there is no one else you can talk to who has the same diagnosis, there's no support group where you can chat to others like all the autism /down syndrome / Angelman syndrome (to name a few) groups. The only support group we fit in is with Swan UK as there are several others who are in the same situation as us. I know having a diagnosis doesnt really change our child's life but it would give us a sense of what to expect but we dont even have that. Its been tough to mentally process it all as there are so many different emotions.

Getting an extremely rare diagnosis can be a double edge sword. 


  1. So interesting and so right in a lot of ways. Thanks so much for linking it to #spectrumsunday

  2. I cried reading this as our situations are very similar. We went through the DDD study too but no results were found. The guilt that this could be something I did is real, even though the doctors have tried to reassure me otherwise. And the last bit about not fitting in with any support groups is so hard. My daughter's condition has a name so I have never felt able to contact SWAN, but there are only 3 people in the world with her exact presentation of the illness and it feels so very isolating to not have anyone to talk to about what it's like and to not have a prognosis.

    I really hope that these studies find something for you and that you can start to get some answers. Sending much love to you and your family.

    And this post obviously resonated with someone because they added it to the BlogCrush linky, to give it some extra exposure. Please feel free to collect your "I've been featured" blog badge :) #blogcrush


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