The Diagnosis

As first time parents Abbas and I had no clue what we were doing, the usual thoughts kept floating in and out of our minds, has Aara eaten enough? why is she crying? why is she sleeping so much? But in my heart I knew there was something different with my little girl…..

Aara at 6 months was under the care of a pediatrician. She was suffering from reflux to the point she would projectile vomit at least twice if not more a day, this was so scary – it looked like a scene from the Exorcist! Aara also was not hitting certain milestones including sitting up, rolling over, holding toys with two hands and had numerous feeding issues.

I would meet my NCT friends who have become more like family rather than friends on a weekly basis either at the park, soft play, baby classes or even at their houses for a cuppa and I could tell that Aara was developing at a much slower pace than the other children, out of all the 9 babies Aara always seemed miles behind. It was then I expressed my concerns to my husband and my parents at first, however they convinced me that all children develop at different rates and Aara would catch up. To be honest that is exactly want I wanted to hear, maybe I was in denial…..but to me Aara is perfect (just like any child is to their parents) and I convinced myself it was all in my head.

The pediatrician advised that we should send Aara for genetic testing, he further explained most children in the UK are sent for genetic testing even for small issues. I was reluctant as I convinced myself my “baby is normal” as well as the fact I had an amnio where our results were given the all clear during pregnancy. The doctor advised if it is available let’s get this done and eventually I accepted referral to a geneticist. By this point Aara was under speech and language therapist for feeding and swallowing, Moorfields for her blocked tear-duct and physiotherapy for her delayed mobility.

On August 25th 2017 we arrived at the hospital to meet the geneticist, in my mind I was convinced my baby girl was perfect and nothing would be wrong with her, this is all just another routine check they do with all babies under a pediatrician…….. well, those were the words repeated over and over in my mind. The specialist welcomed us and explained her role.  We laid Aara on the bed stripped her down to her nappy and the geneticist started taking photos of her and pointing out features of Aara’s body that could be a sign that highlighted why there may be a genetic issue. Some of the things listed:

  • Broad thumbs and toes
  • Red mark between her eyebrows
  • She didn’t look like either my husband or I
  • She was not sitting up at 10 months
  • Her hair line was extremely low
  • She had a squint in her eyes
  • She was not babbling or vocalizing much
  • She was not able to hold a toy confidently or pass it to the other hand or clap her hands together
  • She had a small head size
  • Her height and weight are on the small side based on the growth charts
  • Her eyes become very narrow when she smiles

This was the hardest thing to hear…..essentially this was a doctor pointing out faults with my daughter. I looked over to my husband a little teary eyed and I could tell he was getting worked up the more and more she spoke. I grabbed his hand and gave him a smile, to get him to calm down. Of all the appointments I have been to from trying to get dye in Aara’s eyes, forcing her to stay still for a CT Scan or putting in a cannula on her hand this was the most difficult one to get through.

The geneticist then was jotting down notes and organizing the photos she had taken, I remember us staring at her waiting to hear the professional opinion and in three seconds she changed our lives and said “Aara most likely has a genetic disorder” but I can’t tell exactly what she has or how seriously it can impact her life, until we go for further testing. My heart stopped, I could feel a big gulp in my throat and my eyes filled with water and at that moment Abbas said “but we did an amnio and everything came out normal on that test how can she have a genetic disorder”….obviously the amnio cannot test for every genetic disorder and therefore this is potentially a rare disorder.  The plan now was to go for a blood test (all three of us) and then the doctors would research based on the results and Aara’s physical features to see if they could provide a diagnosis.

Days went by, weeks went by, and on December 23rd 2017 we received a letter in the post saying the results had arrived and we were booked in to see the geneticist on January 24th 2018 at 4pm. I mean 2 days before Christmas we get told we have a diagnosis, but we won’t tell you what it is for another month, to be fair the NHS have been great but this was the one thing that infuriated me….the Christmas holidays were just a blur, family telling us not to worry about it but how can you not? Every day until the 24th January felt like a lifetime….

Wednesday January 24th 2018. The big day finally arrived it felt like my GSCE, A Level – and university test results being published all in one day and that my life plan depended entirely on these results. Abbas and I were both at work that day, we got home early, collected Aara from nursery and drove to our appointment. I remember thinking as we took the elevator up to the second floor whatever we were told today we still wouldn’t know what it meant for the future. I think with anything the fear of the unknown is so difficult to deal with………we bumped into our geneticist in the corridor and she greeted us and advised us  “wait here I’ll be with you in a minute” she came back and guided us to her practice room.  We sat down said our hellos and I saw her pull out a big stack of papers and she said

“This is an information booklet in relation to the genetic disorder Aara has been diagnosed with from her test results. Aara has Rubinstein Taybi Syndrome it’s short name is RTS and this booklet explains everything you need to know. I could feel the gulp in my throat and water gushing to my eyes and mumbled “what does that mean”?

We came away from that appointment no clearer, but with a name Rubinstein Taybi and hundreds of pages of documentation to read through about the changes in genes and all the problems we could face along with the disclaimer that every child is different. I just want to know about my child, yes that is selfish but that is all I cared about! As a mother you picture the future and the happiness and life your daughter will lead – this felt like life had been taken away from us. It’s amazing at that point nothing had changed in Aara from the day before we were told she had RTS but inside it was as if my daughter had died…..with time I can say that my dream is what died and actually now replaced with new dreams.

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