
5 Appointments to expect with Di George Syndrome
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.
Mudpie Fridays
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
CHLOE CILIBERTO
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
Beth
Thank you Chloe. She is a beautiful girl but I’m the one who is lucky to have her! π
Jenny
Bless her, that’s such a lot of appointments. It must be stressful for you too.
Debbie Nicholas
Iβve never heard of this syndrome before and what an awful lot of appointments π
Elizabeth
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.
Beth
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.
Rebecca Smith
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
Beth
It can be stressful! But Enfys is just a darling! π
Sanja
Oh brave little girl!! You are both doing great!! Just keep up the positive attitude! xx
Beth
Thanks we will! π
Cecile Blaireau
I never heard of this syndrome before but it looks like you are dealing so well with the situation! Well done you.
Alex
Gosh that is a lot of appointments! Must be really tough and stressful. Glad she is making good progress though! xx
Beth
She’s making fab progress and I can’t wait to see what the next year brings! π
Talya
I haven’t heard of Di George syndrome before or what additional support it would mean that you needed so thanks for sharing this.
Beth
Thanks. It’s a lifelong journey and, no doubt, we’ll learn many many things about it as time goes on. π
Starlight and Stories
Sending so much love to you, for the first 15 months of the little manβs life we seemed to live in hospitals. It really is so hard work x
Beth
It’s constant isn’t it? I’m relieved that things are slightly slower now, but it can still be so stressful.
Ondo Lady
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.
Beth
She is a brave little lady. I’m so proud of her. π Thank you for your kind words xx