Back to the beginning.

So... my first blog at the beginning of the new year...  what appropriate timing I thought, to take you back to the beginning of our journey, our story of when Fragile X became part of our lives.

I guess this blog might be interesting for those of you who haven't known our journey from the beginning but also for those of you might be looking at your child and some of the things they do or don't do and you're maybe thinking that something just doesn't seem quite right. (I have definitely googled all kinds of interesting behaviours at points over these years).

We've been so fortunate throughout this journey to have good friends and a fantastic family with whom we could talk openly about our observations and concerns and that these people love Micah and spoke in love to us about their observations and concerns that Micah seemed to be developing differently.

When I talk about milestones being missed or hit or what seems normal or not normal, my main comparison to go by was with our eldest boy, a couple of boy cousins and also the numerous girl babies we were surrounded by at the time.

So here's our beginning...

Family history

No known history of any disabilities from either side of the family.

Pregnancy

Fine, albeit with horrible nausea for the first 3-4 months but no worries or concerns. Micah was born ten days late and weighed 8Ib 13.5oz.

Observations/Concerns: From birth, Micah has had overlapping toes. Was this normal?

...Micah turns 1... 

As babies go, Micah was a pretty chilled one (yay)! He met some milestones and he missed some milestones. We weren't overly concerned - I am fairly content and happy that children meet milestones at different rates and when they are ready. 

Observations/Concerns: Nothing out of the ordinary!

...Micah turns 2... 

Micah spent two days a week with a childminder. Seemed settled there and nothing out of the ordinary was picked up.

He missed out on his two-year check, so we waited until he was about two and a half and then got in touch with the Health Visitor. Got given some advice about him being a boy and a second sibling so not to worry about some delays. Top tips about giving choices and talking simply, singing lots and talking about everything you're doing throughout the day (these things we had done with our eldest and continued to do with Micah. We were told to not worry and to wait until he turned three and then ring back. 

I remember meeting up with a friend who also happens to be a speech therapist, which was really helpful as we talked about Micah's speech. She cemented my thoughts in that Micah should maybe be further along then he was with his speech and communication.

Observations/concerns: Micah was a little bit later to crawl, overlapping toes, delayed in his walking, quite clumsy and uncoordinated. Also delayed in his speech.

...Micah turns 3...

In October when Micah turned 3 we tried to get back in touch with the health visitor which proved quite difficult. After numerous attempts of trying to get someone to come out and observe Micah we eventually were sent some ASQs (Ages and Stages Questionnaires) through the post. When we completed these I think we realised that Micah was scoring low on quite a few things, more things then we were originally aware of. Many more phone calls were made to the health visitors but due to staff shortages they were unable to send anyone out to see Micah. 

Micah started Preschool (two days a week). First signs of anxiety as he struggled to settle there at drop off.

In May, Micah had his first seizure and after much persistence and feeling uneasy about having to be the mum who had to chase chase chase and also after crying down the phone to them a health visitor came to see us and after going through all the ASQs with us she referred Micah to the Early Support Pathway, Audiology, and Speech Therapy. This month he also had an EEG (because of the seizures) which came back with signs of enhanced brain activity.

In June, Micah was referred to physio because of his overlapping toes and clumsiness. He was diagnosed with Flat Feet.  

In July, he suffered his second big seizure and was diagnosed with Epilepsy.

In August, Micah had an MRI, the results of which came back normal.

TAC meetings at Preschool started.

Observations/concerns: Seizures, Micah would seem quite clumsy and uncoordinated on his feet and possibly lacking in confidence (perhaps lacking in his gross motor skills?), He would have times where he would just lie on the floor on his front and do nothing. We weren't seeing much independent/imaginary or interest in play, he would mainly just line up cars and seemed very content with this. Autistic traits in certain behaviours, social interactions with peers and his play. ADHD traits especially with some hyperactivity and short attention span

...Micah turns 4...

In October, Micah had his third seizure. Also had his Developmental Assessment (including quite a frank and physical critique) at which he was given the diagnosis of having Global Developmental Delay (GDD). This resulted in bloods being sent off for genetic testing. We were reassured that it would probably be nothing...

In December, another genetics appointment which consisted of lots of photos being taken of some of Micah's physical attributes.

In January/February time we received the phone call to say that Micah had tested positive for a life-long learning disability called Fragile X Syndrome. So, not nothing then...

Observations/concerns: Seizures, GDD, Autistic/ADHD behavior traits, anxiety.

So there it is... our beginning

Receiving Micah's diagnosis of Fragile X Syndrome was and still is heartbreaking but it makes a lot of his behaviours make so much more sense. Before the diagnosis, the only possibilities that were being suggested to us seemed to be Autism or ADHD and although FXS has traits of both, it just didn't sit right with us that Micah had either of these.

If you are at your beginning...

• You are not alone, you are not the only people going through this even though it feels like it.
• If you feel that professionals are not listening to you or being proactive about your child, cry down the phone to them, it really speeds things up!
• Write a diary and film any different behaviours. This is really helpful for professionals and is often easier than trying to explain with words.
• Try and surround yourself with good people who love you and love your child and who you can share your observations and concerns with.
• Try not to be offended if people pick up on certain behaviours that your child has. It might not be anything but it could be something.
• It can be really hard but try not to compare your child with others. Comparison stings deep. Keep looking at just your child and find ways to support their challenges and encourage their strengths. 

Some Terms we were hearing and getting our heads around:

ASQ - ages and stages Questionnaires

Early help pathway/assessment- is the common process for supporting children, young people and families with additional needs through early identification of problems, swift intervention and a planned coordinated response

TAC - The purpose of a TAC meeting is to bring together practitioners. with the appropriate skills to meet the identified needs of the child and develop a support plan. (Team around the Child)

EHCP - Education and Health Care plan ( Is for children and young people aged up to 25 who need more support than is available through special educational needs support. The plan identifies educational, health and social needs and set out additional support to meet those needs.

GDD - Global Developmental Delay (A diagnosis where a child typically presents with a delay in multiple areas)

EEG - Electroencephalogram (A recording of brain activity)

MRI - Magnetic resonance imaging (A type of scan to produce detailed images of inside the body, in Micah's case, his brain)