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5 more appointments to expect with 22q

12th April 2018

A few weeks ago, I told you about 5 appointments you could expect with 22q.  There were 5 appointments that Enfys has attended in the last 2 years.  I also said that those appointments were only the tip of the iceberg.  Today, I’m giving you 5 more appointments you can expect to attend for 22q.

You can expect:

Speech and Language Therapy

Speech and Language difficulties are common with 22q11.2 Deletion Syndrome.  For some children the difficulty could be physical, due to a cleft palate or other malformation.  In other cases, like Enfys, the speech delay is a developmental issue. 
Enfys hasn’t started to say any words yet.  She is beginning to make sounds.  It’s only really been the last 4 months she has made eye contact and attempted interaction with us.

Dietetics

Enfys hasn’t needed to see the Dietician for over a year now.  She’s still small and considered underweight (25% for weight 75% for height) but she’s doing well. 
Children with Di George Syndrome are very often on the smaller side of the centiles.  This difference has meant that an entirely different centile chart exists for babies & children with the condition. 
Dietetics first became involved with Enfys when she was admitted to Noah’s Ark.  She hadn’t gained any weight for weeks.  They made the decision to put her onto high calorie formula.  She remained on the formula until she was 18 months.

Orthotics

There are many different things that affect 22quties, hypermobility is a common complaint.  Enfys has it.  As a result, children often have bendy joints that can’t support themselves well.  Enfys’ biggest problem is her ankles.  Her left is worse than the right but it does make walking difficult.  We regularly see a member of the Orthotics team to monitor her progress with her pretty little ankle supports (or splints). 

Orthoptics

No, I’m not mentioning the same appointment again… this one has a ‘P’.  Problems with vision are also common and regular eye health and sight tests play a crucial role in managing this.  Enfys’ last appointment was almost 2 years ago now, so we are due any time now.
As it stands, Enfys’ eyes are currently fine but that’s not to say they will stay fine. 

Audiology

As with every other appointment I have mentioned Audiology is another common appointment for people with 22q.  Hearing problems are often due to malformations of the ear components, however, as things stand at the moment, Enfys’ hearing is a.ok.  We don’t have to attend another audiology appointment unless we request one.

There we have it, 5 more appointments you could expect with 22q.

Share and be aware!

9 Comments

  • Reply
    Elizabeth
    17th April 2018 at 7:44 am

    This is really useful to know. A friend’s son has this syndrome and it’s a good insight into what they have had to go through.

  • Reply
    John Milnes
    17th April 2018 at 12:10 am

    WOW. I thought I had it tough when I found it I had not thyroid gland when I was a kid. But this sounds like a really bummer with all the appointments you having to go through.. You have found your coping mechanism and bringing to people’s awareness is AWESOME!

    Way to to..

    John M

  • Reply
    Siobhan | The Baby Boat Diaries
    16th April 2018 at 11:07 pm

    I haven”t heard of. 22q before (raising awareness!) sounds like a challenging conditions! Hope all upcoming appointments go well for Enfys! x

  • Reply
    Katy Stevens
    16th April 2018 at 9:57 pm

    Sounds like a lot of appointments! My daughter has health problems but we’re really lucky that they mostly schedule all the appointments together in one specialist clinic – although it means travelling to London!

  • Reply
    Wendy
    16th April 2018 at 9:53 pm

    Gosh, so many appointments! I am sure this post will be really useful for parents in a similar position and will help them to prepare for what’s to come xx

  • Reply
    Stephanie
    16th April 2018 at 9:43 pm

    Thats is really useful for people who have children with this to know what to expect. Appointments are scary when you don’t know whats coming. I am glad they are keeping an eye on everything though and help if you need it

  • Reply
    Ger (It's Me & Ethan)
    15th April 2018 at 8:40 pm

    Appointments eh ? They seem to never end . I know what it’s like , what I’m wondering if you’re anything like me and forget whos who?! I’m a devil for mixing up specialist especially when they ring me ! It’s amazing what we can consider normal when dealing with so many appointments. Our kiddies sure are amazing x

  • Reply
    Cecile Blaireau
    15th April 2018 at 8:39 am

    wow that sounds like so much but it is hopefully to make sure it is ok. I never heard of 22q before. Good luck with it all

  • Reply
    Anne
    14th April 2018 at 12:14 pm

    It seems to be the case with any child with difficulties. I’ve lost count of the number appointments I’ve had over the years with my 12 yr old, she has Autism, Elher’s Danlos Syndrome and significant problems with her bowels which we haven’t discovered the cause of yet. I guess attending appointments just become a way of life. Your little girl looks happy and content in the photos. I hope everything goes as well as possible for you and well done for raising awareness, I’ve not heard of 22q before. x

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