First appointment with the consultant paediatrician

We have an appointment with the consultant community paediatrician today. B has been referred by the paediatric physiotherapist and it's noted that the registrar in paediatrics reported his motor delay and faltering growth. His growth has now improved (hurrah)

B is 18 months old and he isn't standing or walking. He started to commando crawl at about 12 months. His fine motor skills are okay, he uses both hands well and he can build towers and finger feed himself. He has no recognisable words but he does babble. I'm in trouble again because B did not have the newborn hearing screen. He was born at home and I didn't see the point in taking him to hospital the day after he was born for a hearing test. I kind of had better things to do!  B's understanding is okay and he enjoys different toys and engages in pretend play. His general health is fine but he has had a urinary tract infection and had antibiotics. When held by his arms he bears weight on both feet flat to the floor. His toes are splayed bilaterally and there is some outward rolling of his feet. He has brisk deep tendon reflexes globally and his ankle joints are quite flexible bilaterally.

The paediatrician concludes that B can presently be described as a late walker, however in view of his abnormally brisk deep tendon reflexes weight bearing on the medial border of his feet with splaying of his toes, as well as hyper-flexible ankle joints, he will need to be kept under review because he might have an evolving motor disorder which is masked by his hyper-flexible joints.

She wants to review him in three months but in the meantime he will continue to receive physiotherapy input.

In view of his late speech and lack of uptake of newborn hearing screen (see they're at it again) a referral has now been made to Audiology. I have to report a history of hearing loss in my family. A referral to speech and language therapy will be made.

I go home a bit confused and Google the things the Paediatrician mentioned to me. I am starting to read between the lines. B has "hyper-mobility syndrome". Why can't they just tell me that instead of fluffing it up with techno jargon. I start to panic myself when I see mentions of Ehlers-Danlos Syndrome - hyper-mobility is a feature of this rare medical condition. I'm searching for answers myself.

Standing frame and walker

Today we are taking loan of a standing frame and walker for B to use. The aim of the standing frame is to ensure B has the opportunity to maximise his potential in an alternative position. To increase B's awareness of his lower limbs. To gain an understanding of the benefit of standing without being held. To aid his hip development and to enable B to participate in activities in a standing position.

Letter from the health clinic

I've got a letter today about B's review at the health clinic. The results of the investigations show CF phenotype no mutation identified. Anaemia with low haematocrit and low ferritin. Renal function, liver function, bone profile and TSH all normal. Immunology including auto-antibody screen and Elat screen - pending.

She reports that B is pale and bright-eyed and interested in his surroundings, his siblings, and her. He is well perfused with warm peripheries. His feet were not purple and she did not feel they were particularly swollen. Lying prone he would rest on his elbows with his neck to one side but not pushing up. He did reach out for a toy outside of his reach and kick his legs a little but gave up. He showed good resistance to her hand held against his feet. Place in supine he just lay contentedly. He sat well unsupported and had sideways and backwards saving reflexes. He has normal forward and downward parachute reflexes and normal tone posture and movement. His calves were a normal size.

In summary B does have some gross motor delay. He weight has significantly dropped through the centiles and he has iron deficiency anaemia.

So the plan for action is get B referred to a dietician. I agree to this so that we can be sure he is getting enough calories and appropriate food types. Check his stools for fat globules and alpha 1 antitriptazones to look for evidence of fat or protein mal-absorption. I get advice for helping his gross motor development. I've got to get B weighed in two months. And review him in the health clinic in 3 month's time. He is prescribed iron Sytron (sodium feredetate). And I have to get a change of prescription from prophylactic dose to treatment dose.

Physio home assessment

B has his first assessment today for physio at home. The physiotherapist is amazing and B takes to her straight away.

Physiotherapy

B has been referred for physiotherapy assessment and they want to see him for his first appointment. Current waiting time for a physiotherapy assessment is 4-16 weeks.