5 more appointments to expect with 22q

5 more appointments to expect with 22q

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.

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Why I hate filling in forms for Enfys!

Why I hate filling in forms for Enfys!

Raising children with additional needs is often a hair-raising task with many, many challenges.  From the day-to-day living right through to the boring, mundane application forms. 

I’ve had to fill in Enfys’ nursery application recently and how hard it was.  It left me feeling more than a little annoyed and frustrated.  In fact, it made me realise that, for the first time, Enfys’ differences will cause her a problem.  Not that I think that’s actually the case, but that’s how I feel about it.  There is so much more to consider.

Why did I hate filling in Enfys’ nursery application?

Three lines?  Really?

The application form had this much space:

 

 

To fill in Enfys’ medical history.  3 lines.  3 blinking lines to detail all of Enfys’ medical information.  To start with she has Di George Syndrome, a compromised immune system, global development delay, hypermobility.  That’s without going into the finer details of her condition and what it means.  She has no sense of fear, danger or safety.  There’s so much from the medical side to the social side.

One size most certainly doesn’t fit all

A lot of the medical and development information has simple check boxes for yes and no.  There’s no opportunity to explain what’s going on but there’s also no opportunity to say it is still early for bladder control. 

It may well be that she does have awareness by September but right now she doesn’t seem to have a clue (and finds it rather amusing to sit and play if she does have a wee while her nappy is off).

There’s so little awareness of her condition

This is a big one.  I mean, I don’t expect everyone to know exactly what it is but I am fully aware that not many people have heard of Di George Syndrome – I certainly hadn’t until Enfys was diagnosed.  It is this that makes filling in forms so difficult.  I want to provide enough information without overloading it.  I ended up printing off a copy of the 22q Consensus Document from MaxAppeal and handing it to the school,  Not sure how much they appreciated all 63 pages though.  Haha!

This week is not the same as next week will be

With 22q, things can crop up unexpectedly.  They can deteriorate rapidly or massive developmental leaps can be made in a short time.  I go into any form automatically thinking about our worst times.  Times when Enfys goes from a well child to being hit with some sort of bug in a matter of hours.  Times when she really has no idea of the danger she’s putting herself in.  It’s not good having to think negatively about your child’s life.

With each day Enfys grows up

Filling in more forms means that Enfys is getting older.  School applications means that she is reaching school age.  It reminds me that she will not be the cute and sweet toddler she currently is.  She will be cute and sweet still, but she will be older… more independent.  And to be frank, that thought is a little more than scary.

Filling in application forms is a bit of a pain at the best of times but I really hate filling in forms for my special child. 

5 Appointments to expect with Di George Syndrome

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. 

5 things I didn’t know about raising children with different needs

5 things I didn’t know about raising children with different needs

Being a parent is hard.  Whether you’re agonising over how many baths per week is the right amount, or even questioning whether giving your toddler crisps with lunch is acceptable, it’s almost impossible to always feel like you’re doing it right.  Raising children with different need shakes this worry up a bit and adds an additional element to the anxiety. 

When you become a parent, you don’t expect to have anything other than the newborn cuddles and new parent sleep deprived brain fog.  But what happens when the sleep deprived brain fog isn’t the only thing you have to contend with? 

I’ve learned a lot from the last 2 years… From the advice given by well meaning friends who really have no idea, right through to the personal changes I’ve had to make to survive the journey.  Here are 5 things no one tells you about raising children with different needs.

It is isolating

Since the diagnosis, I’ve spent a lot of time joining online groups relating to my children’s needs.  Before I found them, I felt very isolated.  I had family and friends but I still felt like we were the only family in the world, ever, to experience what we were experiencing.  It helped so much to find other families with the same diagnosis who knew, without being told, how we were feeling.

Google is your best friend and your worst enemy

This isn’t strictly just when you’re raising a child with different needs.  Dr. Google is not a qualified doctor.  I googled every symptom Enfys had.  It steered me in the right direction on some things but also terrified the hell out of me on others.  Google helped me spot the signs of heart failure but also told me far more information than I needed to know at the time.  I didn’t want to know that heart failure can lead to death (I mean it goes without saying but reading it hit me like a ton of bricks).  It also only seemed to give me worst case scenarios, never the middle ground. 

However, Google has been very useful in giving me ideas to switch things up when something isn’t working.

Sometimes, you’ve just got to wing it

What works sometimes just stops working.  There is no rhyme nor reason as to why is stops working.  It just doesn’t work anymore.  One day Enfys will love sausages, the next she will throw them all on the floor one by one like they are poison.  (She has undiagnosed sensory issues with food.) There are loads of other situations I’ve had to wing it in, but I can’t for the life of me think of them now.  At the time they are huge but now they are obviously quite insignificant.



Never take anything for granted

You know that shopping trip you went on with your little darlings that ended in disaster?  You see, that’s pretty much how anything can go…  a trip to the Doctors, a visit to the hospital, a day out.  You can’t just assume that a day out will be a pleasant experience for everyone with a child with different needs. 

You also can’t guarantee your snot-free child will be snot-free this evening, let alone tomorrow.  I can’t plan anything too far in advance.  I do, in the hope it will be fine but often bugs take hold and I’m forced to cancel plans and appointments.

Life will never be the same again

There are some days when I long for the quiet life I had before.  When it didn’t feel like all I did was flit from appointment to appointment.  Planning when I could potentially fit in a doctor’s appointment for myself or when I could book the children a routine appointment at the dentist. 

There are some days when I long for a more innocent time.  When medical jargon meant next to nothing to me and Noah’s Ark meant a day out at a farm park not the only children’s hospital in Wales. 

There are some days when I just need a damn good cry…  A good cry over the journey we’ve been on and what we have now.  The tears are tears of frustration, guilt, sadness and, most of all, happiness.  I love the Enfys we have… she’s exactly how she is meant to be.  She fits into our family perfectly. 

Despite this, there’s nothing I would change.  I often think I would be thoroughly bored if it weren’t for Enfys.  She’s excellent at keeping me on my toes.

The A-Z of me – A is for Additional Needs

The A-Z of me – A is for Additional Needs

It was #Blogtober17 that first gave me the idea of an A-Z of me series.  For day one, I wrote the ‘A to Z of me’.  I figure that now is a good time to come back to it and expand on the things for A to Z that make me, well, me. 

A is for Additional Needs

There could be so much more to expand on but most who read regularly will know that my life heavily revolves around additional needs.  Macsen has a speech delay.  Enfys has 22q and with it hypermobility, global development delay, a compromised immune system.  Anwen has funny kidneys.

Macsen’s Speech Delay


Macsen’s speech delay is typical of dyspraxia.  He’s 3 and often can’t make the sounds to form words.  We have recently completed another development assessment with the health visitor.   The results were astonishing.  He has no additional needs other than his speech delay

In most areas of development he is at the level of a 48 month old (4 years).  He is 42 months.  His speech development is at 36 months.  I’m over the moon about a 6 month delay because back in January that delay was 19 months.  In March, when he started speech and language therapy, it was probably larger again. 

I am super proud of my boy.



Enfys and 22q

Enfys has a global development delay. This affects speech, motor skills, social skills and personal skills.  She’s a quiet child who is more into herself than most 2 year olds.  She’s roughly 6-12 months behind where she should be.  It’s so rewarding when she achieves something, even if she is doing it 6 months behind similar aged peers.

When she was first diagnosed with 22q, we were told that nobody knew what to expect.  We didn’t know if she would walk (she did at 25 months); we didn’t know if she would climb (she does, well!).   22q is a spectrum disorder… there is no correlation of the severity of the symptoms a sufferer can experience.

Hypermobility is Enfys’ biggest problem at the moment.

Her ankles are unstable therefore her knees, hips and everything else are unstable.  Walking for Enfys is like us walking on floating rubber mats wearing stilettos.  It is hard work!

Anwen and Crossed Fused Renal Ectopia

Anwen’s kidneys aren’t really considered additional needs but they do make her a little bit more special.  I’ve written more about her special kidneys here