It's B's third birthday today and we're back in hospital meeting the clinical geneticist from the south west Thames regional genetics service.. He has been referred by the Paediatric neurologist. They want to consider if there could be an underlying genetic diagnosis for B's problems. There is no significant family history of note. We go over B's birth history and my pregnancy and she makes notes about this. I have to go over the last 3 years again explaining that we had concerns about his development in the first couple of months particularly when we noticed that he was not reaching and did not roll. His is unsteady on his feet and falls over frequently. He has difficulty climbing stairs and getting on and off seats. He has been delayed on all important milestones. His fine motor skills are more age appropriate although delayed. He can pull up a zip and use a knife and fork. His understanding is inconsistent and he doesn't always respond to his name.. Sometimes he follows simple tasks. We're using Makaton but he does not have a good understanding of this.
He vocalises but has no words. He's currently getting one-to-one support at pre-school. He is quite chesty and often has a cough or cold. Cystic Fibrosis has previously been excluded. He has no heart or kidney problems. His urine smells quite a bit and can be quite dark yellow and it's not affected by what he eats or drinks. He has puffy feet which turn bright red sometimes. But it doesn't cause him any discomfort.
B looks like his brother and sister with no unusual features. He had some molluscum on his head. He has normal hands, normal skin pigmentation and normal heart sounds. He had a chesty upper airways but a clear chest. He was hypo-tonic (poor muscle tone). On standing his feet became puffy and developed a striking red colouration which sometimes rises to his ankles. There was no pitting or indenting when pressure was applied.
B had already had a special genetit test called an array which looks in close details at his chromosomes and is normal. In view of his absent speech she wanted to exclude one diagnosis and organised this on the stored DNA. She explained that when considering genetic conditions they look for specific clues in how children look or behave. With B there are clues which suggested a particular diagnosis which can make it difficult when trying to reach a diagnosis. Genetic testing is improving all the time and this might help make a diagnosis for B. I'm told that B can join a large study called DDD (Deciphering Developmental Disorders) in a few months time. They are going to use the very latest technology and are looking specifically at causes of developmental delay in children like B. No more appointments but they will let me know the outcome of the additional test that's requested and with regards to the DDD study.
tots100
Showing posts with label cystic fibroses. Show all posts
Showing posts with label cystic fibroses. Show all posts
Friday, 25 March 2011
Friday, 27 March 2009
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.
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.
Wednesday, 11 March 2009
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.
Wednesday, 11 February 2009
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.
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.
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