Hearing test take 1

B has his first hearing test today at the audiology clinic. He will not cooperate though. I have no concerns about his hearing because he does respond to sounds but we've got to check his hearing to rule it out as a cause for delayed speech. We're in the TARDIS box (which is not bigger on the inside). They make sounds behind B's back and expect him to turn his whole head around to see the source of the noise. B chooses to flicker his eyes acknowledging the sound but refusing to turn his head. The staff know he can hear the noise but they don't pass him this time because he is not "ticking the boxes". He is like that B he is wants things on his terms and makes everything more awkward.

B gets referred to Speech and Language

I get a letter saying that B has been referred to Speech and Language Therapy for an assessment. The waiting time is currently 5 months. And they promise they are doing all they can to reduce the waiting time. Speech and Language Therapy takes a number of different forms. According to the child's needs, I might get general advice and support, a home programme, sessions of group or individual therapy or a combination of all the above.

Dietician

We are seen in the dietary clinic today by the dietician. I'm not feeling too happy about this appointment. I'm feeling a bit judged. I know my children are getting a good balanced diet and I don't need a professional to tell me if I'm doing it right or wrong. My feelings are confirmed when the dietician takes one look at B and wonders why we are wasting their time! I do so love being right.

Due to the lack of measurements it's difficult to gather a clear picture of his weight and length history and plotting errors on his chart (apparently). He has decreased in length which is not true! They made a note of his feeding history and we reported a good appetite and a detailed food diary. His diet is nutritionally balanced and varied. The dietician feels his diet his adequate for appropriate growth and therefore if his growth remains an issue then it may not be due to his eating problem. His weight gain is starting to increase and she hopes the trend will continue. The goals: include at least two iron rich foods per day and ensure regular meals are given including high fat foods such as oil, cream, full fat dairy products. They are satisfied and a follow up appointment has not been arranged.

I'm feeling slightly smug at this point but still none the wise as to what the true extent of B's problems are and it's back to the drawing board.

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.

Health Clinic

We're back in the health clinic today regarding the motor delay, faltering growth, puffy feet and now iron deficiency anaemia.

B is 13 months now. He has been put on the waiting list for Physiotherapy. He's been taking prophylactic dose of Ironorm for the last week. And been switched to follow on milk instead of cow's milk. He is doing well and eating a normal diet. He's been more "lively" since the last visit. He is now sitting up mostly unaided and can save himself sideways but we're putting cushions behind him just in case he falls backwards. He will now weight bear through is feet if he is held standing. He can roll from front to back and vice versa and get round a whole room this way. He is pushing up onto forearms and kicking his legs. We're happy he has made some progress in the last two months. Caeliac screen result is outstanding

This time I remembered to bring in his sibling's red books. I wanted to prove that both older children dropped down the centiles and are proportionate height for their weight. We're talking about everyone's milestones. A was a bit late he crawled at 15 months and walked at 18 months. L was much quicker. She cruised at 10 months and was walking by her first birthday. We put this down to the fact she was a second child who needed to act fast to get away from her older brother! I reported that I was a bottom shuffler and walked before my second birthday. B's daddy couldn't remember when he walked. I told the registrar that I thought B being left on the floor to play with his siblings was making him lazy and impacting on his development.

More results

I get results today. B's Caeliac screen was negative.

Letter from the health clinic

Just after B's first birthday I get a letter following up the appointment at the health clinic. They list the "problems" as concerns regarding motor delay, faltering growth and puffy feet.

The specialist registrar reports that B is hungry and ratty but settles after a breastfeed. He seemed active in the clinic but he's not that active at home. She says he appeared pale but his conjectiva were pink. He had a small anterior fontanelle but was well perfused centrally. She noted B had purple swollen feet that were cold to touch. I told her they are always like this and it doesn't matter how many pairs of socks that you put on him, he continues to have cold puffy feet. He has some excema on his feet and I told her that he has previously been treated for a fungal infection of his feet. His peripheral pulses were normal and his femorals were of good character and volume.

His heart sounds were normal and chest was clear. His abdomen was soft and non tender with no organomegly. His neurological system as grossly intact with normal power tone and reflexes. There is no evidence of wasting. His buttock muscles looked normal and there seem to be normal hip creases. Still pointing out his weight growth and without having anything to compare it too (I didn't have him weighed at all since birth) she can't assess whether or not this is genetically where he is meant to be. She has no explanation for his cold purple puffy feet at present.

She mentions again that she is confused regarding his cold puffy feet and has included autoimmune profile in the blood works. She is referring B to the Physiotherapists so they can see  him regarding his gross motor delay. I  don't want to see a dietician and she agrees that this is acceptable given his dietary history appears appropriate for his age. I promise to use follow on milk instead of cow's milk from now on at home.

Blood test results

This week I get some results from B's blood tests. They show low haematocrit and Serum Ferritin. He is prescribed an iron supplement.

And Cystic Fibroses is not confirmed. Immunological results are still outstanding. I'm relieved it's not CF. Still living without a diagnosis but in this case the news is good.

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.

Health Clinic

Today B had an appointment at the health clinic.  I had to beg for to see a health visitor because our borough do not offer as many after birth appointments any more. This is a second level referral assessment. I wanted help because B is 10 months old and not yet sitting. But the health visitor gets a bee in her bonnet that B is underweight and refers him for 'faltering growth'. He has dropped down the percentiles but he was a big baby when he was born so there was no way he was going to keep growing at that rate. I'm not concerned about his weight and it frustrates me that they are trying to blame his weight bearing and sitting difficulties on his weight. B is still breastfeeding and eating 3 normal meals a day. He has a good appetite and we can't possibly feed him any more than he has already. They pick up that I've fed him cow's milk before 12 months but there is no evidence of malabsorption stools and normal bowel habits. And no history of vomiting but he does occasionally regurgitate food. I'm pressing home the point that his older siblings were born large babies and then drop down the centiles. This is normal for my babies. I'm saying I'm not overly concerned about his development as he is slightly slower because he is the youngest of three children.

B can't sit without support. He has a straight back but would not sit unsupported in the clinic. He is reluctant to weight bare but will do it if you persevere long enough. When placed on his front he lifts his arms legs and head off the ground but look stranded there making no attempt to crawl or go on his hands and knees. He just looks helpless and beached. He does roll over though onto his back.

He can pick up stuff with is little pincer grasp and finger feeds. Passing objects between his hands and putting his hands in his mouth. B is babbling and we don't have any concerns over his hearing. He is very sociable and happy. He plays with his siblings and has good social interaction.

Due to his faltering growth and gross motor delay she wants to see B again in 8 weeks and do some blood tests. He is going to be tested for celiac and genetic testing for cystic fibrosis. I understand why they want to do this and agree to it.