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.