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Points for Reflection

1.For some parents, there is a sense of guilt or responsibility, even for spontaneous mutations when ďitís nobodyís faultĒ. What support are you able to offer to parents who feel in some way guilty that they have passed on a condition to their child?

2.The parents of very young children also have the worry over how and what they will tell the affected child when he or she is older. What guidance and support might you be able to give parents who have to tell their child that he or she has a condition which will affect his or her life? Who else might appropriately support them?

Activities

In this story, the family were helped greatly by a health visitor who knew very little about the condition, achondroplasia, but who was prepared to put in the time and effort required to educate herself.

1.If you were working with a family that had a genetic condition about which you knew little or nothing, how would you start to find the information both they and you needed? Using achondroplasia (or another condition of interest to you), look for information that would be suitable for both you (and your professional development) and for parents/individuals.

2. As a qualified nurse working on a childrenís ward, you are told to expect an admission of a 10 year old child with achondroplasia who has a severe ear infection. List three key points you would tell a student nurse about Achondroplasia. What other advice could you give the student in preparing her for this child?

3.Would you know how to make an appropriate referral? Write a practice referral letter to the genetic service about the family in this story.

Quotes

ďIt was just very fortunate for us that we had a brilliant health visitor who gave us all the support she could offer.Ē

ďIt has made us realise how much of a lottery life is.Ē

ďMy son having achondroplasia has not changed the way we feel about him, or the way we will treat him. As we were once told, heís the same little boy, just a bit shorter.Ē

Further information

Restricted Growth Association website: http://www.restrictedgrowth.co.uk/

UK National Library for Health, Genetic Conditions Specialist Library website: Acondroplasia briefing.

US National Library of Medicine, Genetics Home Reference - Achondroplasia.


Location: The Stories
Transcript

You can download the full transcript here

Nobody's fault - achondroplasia
Mariaís experience as a mother caring for a child with this dominantly inherited condition

We first found out about my sonís condition when he was about a month and a half old. When he was born we were told he had a large head and that we would need to take him for an ultrasound scan in a few weeks. This then led to more scans and an x-ray. Eventually the results came back as achondroplasia.

Unfortunately we had a bad relationship with our consultant at the time. We found him to be very rude and arrogant which made a very difficult time a lot harder, so we did not feel like we got the support and help that we really needed. When we were first given a possible diagnosis we were told that my son would be ďa bit shortĒ. I donít really remember fully being told what achondroplasia was. We left the hospital feeling very confused and unsure of what my sonís future held. I feel the situation could have been handled much better. When you are given such a life changing piece of information there is a lot to take in. It would have been much more helpful to have been given some sort of literature on the subject to take home. Then if there were things that maybe were not understood or were missed, there is a way of getting the information that is needed.

Everything seems to have taken a long time to get sorted. Whilst we do appreciate that there are many people who have a lot more urgent problems that need to be treated, there just didnít seem to be any procedure that should have been followed. We spent weeks trying to chase up consultants, there were times when we were just left not knowing when we were going to next see someone.

My son will be over a year old when we finally have the appointment to see somebody at a London hospital who specialises in the condition. This has taken so long because we didnít get a referral until my son was over seven months old and this was purely because nobody knew who we should be seeing. We would like to get an expert opinion from somebody who knows the condition and can check he is developing well or if there is anything we should be on the look-out for. Unfortunately hardly anyone in this area has had to deal with someone who has achondroplasia before so they are kind of having to learn as they go. We did get to speak to a geneticist when my son was four months old who was very helpful and explained to us how my son came to have the condition. He also told us about some of the other complications that come along with it.

It was just very fortunate for us that we had a brilliant health visitor who gave us all the support she could offer. She helped us find out all that she could, even though she knew as little as we did. She spent much of her own time doing research on the internet about the condition and where to get some special growth charts for my son to record his progress. There were numerous amounts of calls made by her to our consultant in an effort to get appointments or just to chase things up. She also, with the help of our GP, made sure that we got referrals to all the right people and got a different Consultant. We were just made to feel very looked after in spite of the fact that the rest of the system seemed to be failing us. It felt like somebody was on our side and looking after our best interests.

Finding out that my son had achondroplasia was a shock. It was difficult to understand how he could get a condition of restricted growth with two average height parents. In our case the condition was just caused by a fault in one of my sonís genes which happened during conception and was not actually inherited from us. It is not something we can feel guilty about because itís nobodyís fault, but at the same time he did come from us so Iím not sure if we should feel in some way responsible. Itís strange to think that if in the future he has children, then this is something that will possibly be passed on and be continued in his family. And all the while it started off with two average height people. It has made us realise how much of a lottery life is.

My son is coming up to a year old now and the differences he has compared to the other babies of his age are starting to become more apparent. It makes everything seem a bit more real. We know that obviously there are going to be testing times in the future when he realises that he isnít quite like the other children. We also know that what we say to him to explain this will affect the way he views himself. My son having achondroplasia has not changed the way we feel about him, or the way we will treat him. As we were once told, heís the same little boy, just a bit shorter.