| Becky's Story |
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.jpg) My pregnancy with Becky was relatively uncomplicated, as too was the birth. Becky was born after a one and a half hour labour at thirty eight weeks. All was going fine until Becky turned blue on her second breast feed. Becky spent the next nine hours in the special care nursery which looking back was probably a blessing as we were automatically put under the watchful eye of a paediatrician. The only possible sign that could have alerted us to Becky not being a “typically developing child” was that the fact she was still struggling to fully open her left eye at aged two months. By four months of age it was also apparent that Becky was now struggling to support her head by herself and grasp a rattle. I was told some children take longer to hold their heads than others and she would continue to be monitored. I mentioned to the paediatrician I was still concerned about Becky’s left eye and we were referred onto a paediatric ophthalmologist, who diagnosed Becky with left convergent squint (Strabismus) and a question on normal vision.
At our six month maternal health nurse appointment it was established that Becky had hypotonia (low tone) and we were asked if we wanted to see a paediatric physio, which we did, fortunately with no waiting period.
At nine months we saw a different paediatrician who told me “I was going to go away very sad because Becky had global development delay, an increasing head size and was possibly having seizures” at which point I burst into tears and we never saw that paediatrician again. The paediatrician arranged a head ultrasound, a number of blood tests; Fragile X, urine metabolic serum , FBC, electrolytes, LFT’s THS Chromosome and referred us onto a neurologist at the Children’s.
I kept telling myself, there is nothing wrong with our daughter but poor eye sight and low muscle tone, truth be know I was kidding myself. I did sense the physio (who was extremely experienced in the area of early intervention and disability) thought there were other problems but was very tactful and did not broach the subject. The physio was very proactive (thankfully) and arranged for Becky to see the Occupational Therapist who worked along side her. To my disappointment the OT pointed out that Becky could not straighten three of fingers which in her case meant she had camptaodactyly. I am not sure how I missed this before now, in fact none of the health professionals we had seen to date had established this.
Becky visits the paediatric ophthalmologist every four months and received her first pair of glasses aged ten months. Luckily for us, Becky is generally pretty good about keeping her glasses on most of the time.
Becky had a head ultrasound at ten months, thankfully everything appeared to be “normal”. This was followed by an MRI three months later which was relatively normal besides ascertaining the ventricles in her brain were slightly enlarged.
We first met with a geneticist at the Children’s when Becky was fourteen months old. No diagnosis came to mind but we were told “Becky looked like a child who could possibly be missing a chromosome.” It was now apparent Becky had the following symptoms: global development delay, hypotonia, left strabismus, dysmorphic, in her case a high forehead with frontal bossing, camptaodactyly, bilateral sandal gap of the big toe on both feet. More blood tests were ordered including the key test in the diagnosis of C.D.G., the “transferrin isoforms” test. The first test results came back on the upper limit of normal, so the geneticist ordered a repeat test.
I remember Googling “transferrin isotype” and coming up with C.D.G. and reading all the subtypes and thinking my daughter can’t have C.D.G. because she only has a few symptoms of some of the subtypes. How wrong was I? Obviously I had a lot to learn about genetic disorders and in particular C.D.G. syndrome.
Two months after we had our first appointment with the genetics department, the dreaded call from the geneticist , we have a diagnosis. I remember asking does Becky have C.D.G. and was told yes, she has type 2 but an unknown subtype, hence C.D.G. Syndrome Type 2X. We were asked to come into the hospital the next day to talk to the geneticist and the metabolic specialists. I got off the phone and broke down in inconsolable tears.
Becky had her hands x-rayed to investigate camptaodactyly at fifteen months. It was confirmed she could not straighten three of fingers and may not ever be able to straighten them. The good news is that the condition should not stop her doing anything. Becky was to continue wearing the splints the OT had made for us to try and straighten her fingers as much as she could whilst she was trying to crawl and weight bear. Beck finally achieved crawling on Christmas day, one of the best Christmas presents we could have.
At twenty two months Becky’s underwent her second MRI which revealed no change from the first MRI. At least her head was not growing at alarming rates anymore.
Becky was asked to have more CDG related blood tests so the results could be analysed in Brisbane. One of these tests carried out was an APOCIII test which acts as a marker of O-Glycosylation. Conserved Oligomeric Goligi (COG) are deficient in N and O glycosylation and it was needed to determine if Becky’s type of C.D.G. was COG related. After a ten month wait the tests came back invalidated because they used a new method of analysis but we were told that they were as good as accurate and that Becky’s type of C.D.G. was not COG related.
The next step was to take a sample of Becky’s skin cells and take more blood samples and send them of to the “guru” of C.D.G., Jaak Jaeken in Belgium for lipid linked oligosaccharide analysis. Research into C.D.G. is really important so parents don’t have to wait so long for a full diagnosis. C.D.G. research which is limited, expensive and has draws very few experts to this condition.
It has been almost twenty one months since Becky was first diagnosed with C.D.G. Type 2 and we are still waiting to discover which subgroup she belongs to. I understand the phenotype of C.D.G. 2 is still evolving and it is an incredibly rare condition but at the same time I can’t help feeling frustrated that we have to wait such an extended period of time for a full diagnosis. Every time Becky becomes ill I worry that it is related to C.D.G.. We have yearly cardiology check ups because some subtypes of people with C.D.G. are prone to heart problems, others are prone to respiratory problems, others have low white blood cell counts and the list goes on.
We do not know what the future holds for Becky. All we can do is focus on is helping Becky become the best person she is capable of being which involves a lot of hard work and lots of early intervention. Becky has made an amazing journey so far, learning to walk in March this year and she has now started to say a few words. We are incredibly proud of her and for now we have to be content that Becky is Becky, our beautiful three year old daughter, a delightfully cheeky girl who brings us much joy and whom we love very very much.
Thank you for taking the time to read Becky’s story.
Heather Renton & Shane Harvey (Becky’s Parents), Victoria, Australia
3 September 2009
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