Monday 30.July.2001:
Wednesday 27.June.2001:
Took Tristan in the see the local GP to see if he has any signs of Marfan’s syndrome as he wants to play football. And since Marfan’s involves head injuries, football in more of a contact sport. She checked him out, after he striped off, his feet had a small arch, his eyes were 20/20, his arms were not longer, and he isn’t tall for his age. He is double –jointed. She also checked out his heart, and was told to hold his breathe twice, then she looked directly at me, biting her bottom lip, looking totally shocked and said “Kathryn, I can hear a heart Murmur”. At that moment I felt the blood drain from my face, and I looked completely shocked. I said “ a what”? The reply was the same. I couldn’t believe it. So now he will be under a paediatric care at the Royal Children’s Hospital. He is having all the appropriate tests needed.
Tuesday 31st July 2001:
Tristan, My parents and I went to the Royal Children’s Hospital for Tristan’s Heart Murmur, to see if Tristan has Marfan’s. His appointment was for 2 pm, we were seen at 2.15pm. The Dr. asked questions about the family History, and was more interested in my illnesses. He told Tristan to strip off from the waist up. Tristan was embarrassed. He is very shy. lol. The Dr. inspected him, and declared he hasn’t got Marfan’s at this stage, but it’s easier to tell, after puberty. He asked me about my CF, and I told him that I completed all the tests, the DNA was inconclusive, but the sweat test was positive for both. So he wrote me out a pathology slip for another DNA test. Have to wait 6 weeks. Tristan is to see my local GP, and get a referral for an echocardiogram.
Tuesday 7.8.2001:
Dear Kathryn,
I am writing to summarise our discussion in the Genetics Clinic following your visit with Tristan.
Dr. T referred Tristan to discuss whether he might have the same genetic condition as you, Marfan syndrome, as he was recently found to have a heart murmur. As you have Marfan’s Syndrome you have 1 in 2 chance of passing the condition on to your children.
When we examined Tristan he does not have any features of Marfan syndrome. About 5% of boys of Tristan’s age have an extra heart sound (a murmur) and the large majority of these are innocent. For reassurance I will ask Dr T, to organise an echocardiogram for Tristan to look at the structure of his heart.
We did not have time to discuss Marfan syndrome in you but it would be important that you are under regular review if you are not already. Genetic Health holds a clinic for Adult patients with Marfan’s syndrome at the Alfred Hospital. If you do not already attend the clinic, I would suggest the Dr T refer you. I enclose a leaflet giving you the details.
As you also have Cystic fibrosis we took blood for gene testing. Although your sweat test is apparently positive confirming the diagnosis of CF, your gene testing is negative. This suggests that you carry CF gene changes that we are not able to test for at present. I am sending a copy of this letter to Dr R.
I have not arranged to see Tristan in this clinic again but we would he happy to see your family in the future.
Your sincerely.
Monday 13th.August.2001:
Tristan had his appointment at 9.40 am. The nice lady squeezed him in. After I explained to her the full story with the Bell slip. Not sure if I mentioned it before but since the Local Dr. fill out a referral for Tristan to get his echocardiogram done. She filled it out on a Bell slip. I called the Sunshine Hospital for an appointment, only to be told they don’t do them. I called the Footscray number on the back, hoping to make an appointment, as I had an echo done there a couple months ago. The lady told me that the dr. used the wrong slip. Instead of Bell, it should have been pathology. I told her, Pathology deals with blood, and bell deals with Echo’s and X-rays ect. Therefore it’s the right form. She then added that they don’t do Echo’s anyway, so I asked her what the number was doing at the back of the form? No answer. Bye Bye.
Back to the Dr’s I went, told the Dr the story of the “referral”. She called Footscray and they told her the same thing as me. She also asked why the number was on the back of the form, she had a response.
The Local Dr. then gave me another number to call, across the road from Sunshine Hospital, its private and normal have to pay. That’s why the nice girl booked in Tristan, and also bulk billed me, so I won’t have to pay heaps and it’s free.
The girl talked Tristan through it, which was fascinated to watch his heart on the monitor. Showed the different colours in the heart structure. Pointed out the valve in the heart. I saw the murmur on the monitor; it was fascinating in a way, as I have never seen one before. After that it lasted 30 mins, and I was busy chasing bubs around the desk. Waiting for the results to come in – should be this week hopefully.
Tuesday 28th August 2001:
Having the run around regarding Tristan, I have been trying to organise him to be tested for Cystic Fibrosis (CF). The paediatric, who looked at Tristan regarding Marfan’s Syndrome, doesn’t want to see him again. My local Dr. wont give me a referral as she said she is not allowed as it has to be done by a specialist or paediatric. Dr R. at the Alfred, stated that he wanted both kids tested for CF. I called the Alfred Hospital, and spoke to the Secretary there, F, CF section. I told her all the bullshit, and she told me that Dr R. can not refer Tristan as its only for adults with CF, not kids. F, gave me a number for a lady who will “talk” to me about a referral and the genes and stuff. She works with Genetics. It’s NO WONDER why I have this ulcer!
Monday 3rd June 2002:
Tristan has been tested for Marfans and CF. the results on the Marfan’s came back negative at this stage because he hasn’t hit puberty yet. After puberty he will be tested again, about 15-16 years of age. His heart murmur is still there, even though he plays sports and runs around like an active 11 year old, he knows he still has to have a rest, when tired.
Cystic Fibrosis – His sweat test came back in the clear. He hasn’t got CF.
Friday 26th October 2002:
Tristan has been complaining about dizzy spells, nausea and a sore back. I took Tristan to the local GP on Friday to check him out, as he stayed home from school. Dr P, checked him out, asked if he had problems looking into the light, and any stiff joints. The answer was no. The Dr, then rang up the Royal children’s Hospital, spoke to someone senior there, and said we will be on our way.
When we arrived at the children’s, we were seen to straight away, no lining up or waiting for Hr’s. The nurse took Tristans blood pressure and weight, as Tristan was pale, and was about to be sick. The Dr came in and checked out Tristan joints, and little exercises to make sure the brain is stimulating with the muscles. So they are working together. I had to explain about the Family History again, and also inform them that he may have a chance of Marfan’s as of his Heart murmur. The dr then performed and ECG on him, and it came out ok. We were in the hospital for 4 Hr’s. Tristan had some Panadol, he was feeling a lot better and I have to book him to see a neurologist. As the dr said he is too young to have backache at the age of 12, followed by nausea and the odd dizzy spell. Tristan’s appointment is on the 14th November.
10th July 2003:
Took Tristan to get X-rays on his kneecaps, as I took him to the local GP, as Tristan was complaining of headaches and sore knees. The GP, said it might be Marfan’s related, as he could have loose joints, or tendons. I just have to wait for the X-rays to come thru, so I can take Tristan back to the dr’s for the results.
** This is all the news I have at the moment but will kept it up-to-date. Thank you for your emails and support.**
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