Additional Needs

5 Appointments to expect with Di George Syndrome

9th February 2018

If you had said to me in February 2016 that I would have attended over 60 hospital appointments by February 2018, I would have called you a liar.  There’s no way one person can have THAT MANY appointments… is there?

Yes, there is.  Enfys is at the milder end of the 22q spectrum, however she has had over 60 appointments in just shy of 2 years.  Many of those have been follow ups from previous appointments with the same consultants but we must have at least 4 appointments a month on average at the moment. 

Here are 5 of the appointments Enfys has had in the last 6 months:

Cardiology

Enfys has had several cardiology appointments and echocardiograms since birth.  She had open heart surgery at 4.5 months to repair a Ventricular Septal Defect.  Her most recent echo was in September and we had fantastic news.  Everything looks good with her heart, the repair is looking fantastic. 

Her next Cardiology review will be around September 2019.



Physiotherapy

With 22q, Hypermobility and hypotonia are common and Enfys required 18 months of physiotherapy appointments to continually monitor her progress.  However, her last appointment was in November and she was discharged from their care.  She may need them again in the future but, for now, she’s doing really well.

Community Paediatrician

This is the person who is responsible for overseeing all of Enfys’ care and co-ordinating referrals to other specialists.  We saw her in November and it was a great appointment.  Yes, she has a global development delay but she’s on course to doing things her way in her time. Enfys’ Paediatrician will also play a part in meetings to discuss her starting at Nursery in September and then on to full time school. 

We’ll be seeing her again in March.

Immunology

Another common complication with Di George Syndrome is an under-developed (or non-existent) thymus gland.  The thymus is responsible for helping the immune system fight infections with the use of T-Cells.  Enfys’ is under developed.  She has some T-Cells but not the same number a child of her age should have. This cartoon from Max Appeal explains the function of T-Cells and the result much better than I can.

At the beginning of January, Enfys attended an immunology appointment and had bloods taken to check on the immune system and various other issues that can affect people with 22q.  We’re still awaiting the results but the appointment went quite well and Enfys was a star, as always.

Portage (Children’s Development Advisory Service)

We have a wonderful lady from Portage who has been seeing Enfys for almost 2 years.  I will be very sad to say goodbye when Enfys starts nursery in September.  She visits our home, bringing toys and structures the sessions to focus on areas Enfys is behind in.  It’s been a fantastic experience with her and I love the way Enfys responds to it.  These days, Enfys heads straight to her bags to see which toys are in them.  For more information about Portage and the service you can visit the National Portage Association website. 

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20 Comments

  • Reply
    Mudpie Fridays
    16th February 2018 at 2:17 pm

    Oh my goodness, I can only imagine how worrying all this has been for you all. Its sounds like you have been doping such a great job at ensuring she gets the care she needs. I hope that the tradition to nursery goes well and that she continues to improve x

  • Reply
    CHLOE CILIBERTO
    14th February 2018 at 8:22 am

    Oh wow, that sounds hectic to have so many appointments in two short years, but so amazing that they are all available to her. I’ve never heard of di george syndrome before. She sounds like such a brave, beautiful little girl. I can’t imagine how constant all your appointments are. You sound like the strongest, most determined Mum and Enfys is so lucky to have you. I hope her transition to nursery goes well and she keeps improving as she is. xx

    • Reply
      Beth
      15th February 2018 at 3:03 pm

      Thank you Chloe. She is a beautiful girl but I’m the one who is lucky to have her! πŸ™‚

  • Reply
    Jenny
    13th February 2018 at 8:21 pm

    Bless her, that’s such a lot of appointments. It must be stressful for you too.

  • Reply
    Debbie Nicholas
    13th February 2018 at 2:48 pm

    I’ve never heard of this syndrome before and what an awful lot of appointments πŸ™

  • Reply
    Elizabeth
    13th February 2018 at 12:04 pm

    I had no idea there were so many appointments associated with this condition. My youngest son’s classmate also has di george syndrome. He’s such a lovely wee fellow.

    • Reply
      Beth
      13th February 2018 at 1:04 pm

      Depending on the problems the syndrome cause a person there can be 100s of appointments a year.

      There are almost 200 issues associated with the syndrome.

  • Reply
    Rebecca Smith
    12th February 2018 at 6:14 pm

    I hadn’t heard of this syndrome before, sounds like it can be quite stressful with all the appointments Enfy has to have. Thanks for sharing and I am glad she is making some good progress

    • Reply
      Beth
      13th February 2018 at 1:05 pm

      It can be stressful! But Enfys is just a darling! πŸ˜€

  • Reply
    Sanja
    12th February 2018 at 8:31 am

    Oh brave little girl!! You are both doing great!! Just keep up the positive attitude! xx

    • Reply
      Beth
      13th February 2018 at 1:05 pm

      Thanks we will! πŸ˜€

  • Reply
    Cecile Blaireau
    11th February 2018 at 6:12 pm

    I never heard of this syndrome before but it looks like you are dealing so well with the situation! Well done you.

  • Reply
    Alex
    11th February 2018 at 4:59 pm

    Gosh that is a lot of appointments! Must be really tough and stressful. Glad she is making good progress though! xx

    • Reply
      Beth
      13th February 2018 at 1:06 pm

      She’s making fab progress and I can’t wait to see what the next year brings! πŸ˜€

  • Reply
    Talya
    11th February 2018 at 12:54 pm

    I haven’t heard of Di George syndrome before or what additional support it would mean that you needed so thanks for sharing this.

    • Reply
      Beth
      11th February 2018 at 2:29 pm

      Thanks. It’s a lifelong journey and, no doubt, we’ll learn many many things about it as time goes on. πŸ™‚

  • Reply
    Starlight and Stories
    11th February 2018 at 7:36 am

    Sending so much love to you, for the first 15 months of the little man’s life we seemed to live in hospitals. It really is so hard work x

    • Reply
      Beth
      11th February 2018 at 2:34 pm

      It’s constant isn’t it? I’m relieved that things are slightly slower now, but it can still be so stressful.

  • Reply
    Ondo Lady
    10th February 2018 at 7:41 pm

    That seems like a lot to take on for any family so I applaud you. I am glad to hear that Enfys is making good progress, you must feel very relieved. She is a brave little lady.

    • Reply
      Beth
      11th February 2018 at 2:36 pm

      She is a brave little lady. I’m so proud of her. πŸ˜€ Thank you for your kind words xx

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