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.
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.
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).
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.
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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