Prenatal diagnosis (testing an unborn baby in the womb) and preimplantation genetic diagnosis (PGD) techniques are now available to couples planning a family.
NF1 and pregnancy
If you are generally in good health, there are no specific concerns about pregnancy and NF1. If you are pregnant and you have NF1, you should let the maternity unit know that you have NF1 at the first antenatal visit.
Some women report an increase in the number of neurofibromas and an increase in size of existing neurofibromas. When your baby arrives, they should be checked for features of NF1 from the first months of life by a community or hospital paediatrician, geneticist or clinic specialising in NF1.
There is no reason why a mother with NF1 should not be able to breastfeed. Occasionally the presence of neurofibroma(s) around the nipple can create difficulties for the baby to “latch on”.
What do I need to do to look after myself or my family if we have NF1?
If you have NF1, you should expect to live a long life in good health. Most people who have NF1 go through life with relatively few medical problems. NF1 can cause life-threatening problems but these are rare. It is important to have regular medical follow-up so that any complications can be identified early.
If you notice unusual health changes or symptoms it is important to seek medical advice sooner rather than later.
Remind your doctor that you have NF1 and ask the question: “Could this be linked to my NF1?”
If the problem does not go away or is getting worse, return to your doctor for further advice or ask to be referred to a specialist.
It is important to note that your GP may not see many people with NF1 and for this reason they may not know how variable NF1 can be from person to person.
If you are an adult, it is a good idea to see your GP once a year for a general health check-up and to have your blood pressure checked. It is also a good idea to have regular eye checks with your optician. See your doctor if you have any new or unexplained symptoms.
If you have a child with NF1, it is advisable that their growth, development and general health is monitored from diagnosis until adulthood. The paediatrician will advise you how frequently your child needs to be reviewed.
Brain scans are not routinely performed in NF1 unless there are specific reasons to do this, for example unusual symptoms. If you notice any changes in your health (as described earlier) outside of routine review appointments, it is sensible to seek medical advice. If symptoms do not go away, then it is important to return to your doctor for further advice because if you do not, the doctor will assume that you have recovered from the problem.
Authors:
Rosemary Ashton (Abbott) – Neurofibromatosis Specialist Advisor, The Neuro Foundation
Hilda Crawford – Neurofibromatosis Specialist Advisor, Belfast City Hospital Trust
Co-authors and medical advisors:
Professor Patrick Morrison – Consultant in Clinical Genetics, Belfast City Hospital Trust
Dr Shane McKee – Consultant in Clinical Genetics, Belfast City Hospital Trust
Dr Susan Huson – Neurofibromatosis Centre Genetic Medicine, St Mary’s Hospital, Manchester
For more information visit www.nfauk.org.
2The Law
“The greatest insult to the sanctity of life is indifference to laziness in the face of its complexity.”
– Ronald Dworkin
The Global Perspective
In November 1994, the US state of Oregon approved the Death With Dignity Act (DWDA) and became the first state in that country to allow physician-assisted suicide for terminally ill patients.
The DWDA requires individuals who seek assisted suicide to meet strict conditions, including the voluntary self-administration of lethal medication, that they be resident in the state, and that the prognosis is for a life span of six months or less.
Since the DWDA was enacted in late 1997, a total of 935 people have had prescriptions written and 596 patients have died from ingesting medications prescribed under the law.* The anomaly in the totals proves that some people, once they have obtained permission for an assisted suicide and receive the prescription, opt not to use it. The knowledge that they can resort to the prescription if required has been shown to lessen anxiety about end-of-life issues and some patients move on to receive standard palliative care.
In 2008, physician-assisted suicide with certain restrictions became legal in the state of Washington with the passing of the Death With Dignity Act. The law in this state also requires that the patient ingest medication without assistance.
In January 2009, Montana became the third state in the US to legalise self-administered lethal doses of medication prescribed by doctors to terminally ill, mentally competent individuals. At the time of writing, New Jersey state had introduced a bill to decriminalise assisted suicide, which polls suggested was likely to be passed.
At the turn of the century, two countries in Europe legalised assisted suicide and euthanasia – the Netherlands in 2002, followed by Belgium later the same year.
While active euthanasia is illegal in Switzerland, the country provides a unique legal framework for assisted suicide, including for foreign nationals. Assisted suicide is permitted only if the recipient is able to make an autonomous choice and physically take the lethal cocktail without assistance. The specific clause, Article 115 of the Swiss Penal Code, was approved in 1937 but only came into effect in 1942.
In 2012, for the first time, the Swiss Federal Statistical Office (FSO) released statistics on assisted suicide in that country.* In 2009, there were 300 assisted suicides, which corresponds to 4.8 per 1 000 deaths. Statistics prior to 1998, when just fewer than 50 assisted suicides were recorded, are not available. Statistics for the same year in Belgium are 7.9 per 1 000 deaths, while in the Netherlands only 2.3 per 1 000 deaths were reported in 2010.
In 2009, Luxembourg became the third European country to permit assisted suicide with the passing of the Palliative Care/Euthanasia Bill, which requires terminally ill patients to draw up an
