Dr Child's Casebook: Where Do We Go From Here?
Strongly suspecting the prevalence of a connective tissue disorder running through their family, a member of the public contacted our Helpline. With relatives united by visible signs of perhaps Ehlers Danlos or even Marfan syndrome, affecting skeleton, lung and eyes, the patient wanted to definitively discover the linked cause, if indeed there was one. What to do and where to go from here?
Q: We strongly feel that our family may be affected by Marfan Syndrome or Ehlers Danlos Syndrome. With this in mind, we would like to locate a reliable genetic test centre to undertake screening for these and related disorders. Members of the family exhibit hand sign, wrist sign, pectus abnormalities, kyphosis, joint subluxations, spontaneous pneumothorax, strabismus, bladder and bowel issues, backache and dizziness. We would like to establish if there is a linked cause for these issues. Can you recommend a specialist genetic centre?
And, If we are able to get confirmation/diagnosis of Marfan/Ehlers Danlos for one family member, can we then use this positive diagnosis to access further treatment and 'trickle down' testing for other family members through the NHS?
A: Your GP may refer the most affected member of your family for a test, and assuming the answer is a positive diagnosis of Marfan syndrome, this would be used for trickle-down testing for other family members on the NHS. But be aware that the money travels with that one patient throughout the NHS. As such, your GP may be reluctant to refer you as it would come from their budget, in which case a private diagnosis would be needed. Obviously, that is an ideal situation, if you have one physician who can refer the most affected to the NHS regional genetics centre. This person can represent the family and have clinical and genetic screening. He/ she should take the family pedigree, and the features displayed in a list. This would provide a diagnosis for 'trickle-down' testing for other family members through the NHS. Any early deaths under the age of 50 should be recorded. Serious eye, heart or skeletal features should be listed. A copy of this list should be left with the geneticist.
Also snapshots of affected members should be taken to the interview, and copies left for the notes. Photos of family gatherings are useful- celebrations, Christmas, weddings are useful. If any gene mutation is found ,then each family member can similarly be referred to their regional genetics centre, and a DNA sample taken to compare with the original patient's result to see if the relative is also affected.
Although the cost of an initial private consultation may be reasonable, other tests may be ordered e.g. echocardiogram (£350, and a DNA screen will probably cost up to £1200).
Relatives' screening means further DNA testing. I would urge you to try the NHS route first. The most affected person should ask the family doctor for a referral letter.
If you feel a private consultation is preferred, and you are living near London, I can recommend a private geneticist. Otherwise, contact your regional genetics clinic and ask for information about a private consultant in your area.