Newborn screening for Duchenne muscular dystrophy

Hi everyone,

Thanks for joining this Duchenne Dialogue on newborn screening for Duchenne muscular dystrophy.

A special welcome to:

• Professor Francesco Muntoni, Great Ormond Street Hospital
• Rachel Salmon, Neuromuscular Care Advisor and former newborn screening nurse in Wales
• Chris and Jeanette George, whose son, Alex, was diagnosed through the former newborn screening programme in Wales
• Annie Kennedy, Senior Vice-President – Legislation and Public Policy, Parent Project Muscular Dystrophy

Over the next hour or so, we’ll be discussing the benefits of screening for Duchenne, difficulties that can arise and the challenges that need to be overcome to get National Screening Committee approval for a screening programme.

MDUK will be using some of the discussions and feedback as a basis for a response to the NSC’s current consultation on screening for Duchenne, which closes 15 August.

For individuals with Duchenne, parents and family members who may be joining us, please feel free to contribute and ask questions at any point.

Similarly to our experts, we’d like the discussion to be free flowing so please do come in with additional comments or with questions to one another.

Thanks Francesco.

Welcome also to Chris and Jeanette George who are joining us from Cardiff, and whose child was diagnosed through newborn screening in Wales, which was withdrawn in 2011.

I wondered if you could say a bit about your experience of the newborn screening programme in Wales?

We all know there is no good time to receive a diagnosis, but did the timing of the diagnosis – a few weeks after Alex’s birth – affect the way you subsequently managed his condition, or your planning ahead as a family?

Thanks Francesco. One of the issues that came up with the NSC’s recent consultation document is a lack of clinical consensus on when to initiate best standards of care. Would you say that this is a fair comment, or is there a consensus around starting at a particular age that the NSC should be aware of?

Chris and Jeanette George wrote:

Hello all,

Happy to participate with this discussion.

Alex was diagnosed at 11 weeks on the basis of the heel prick test for which we gave consent.
We have two older children who were OK and Alex was planned as the ‘last one’!

He has a spontaneous mutation (deletion 3-7).

After the diagnosis we had a few immediated considerations;
1) mum decided to go back to work part time,
2) stopped further investment in our home because we realised that Alex’ needs would probably require us to move
3) financial planning
4) for Alex, early start on vitamin D supplementation and it enabled us to have early discussions with clinicians and healthcare professionals (including Rachel) (e.g. annual flu jab, night splints, hospital appointments have become the ‘normal’)
5) Deliberately steered Alex’ hobbies towards arts/crafts and swimming as opposed to those sports that cause physical trauma. No trampolines or swimming.
6) Awareness of his condition at all phases of pre-school / school to date (including visits from occupational therapy.

Thanks for sharing this Chris and Jeanette. Based on your experience in Cardiff, would you both support UK wide screening for Duchenne?

We also wondered about how you feel issues of informed consent were handled. Some families report that they didn’t feel in hindsight they have been fully aware of what they had agreed to, and would not have consented had they known. Did you feel that this was handled well? As if there was a UK wide programme of screening we would need to ensure that informed consent is properly handled, and families could access the right emotional support.

Chris and Jeanette George wrote:

We would strongly support this. We would say that our consent was done in the ignorance of what DMD was, and we had no knowledge of this condition. Consent was a box that we ticked for the other diseases really- in our ‘Bounty Pack’ which contained descriptions of neonatal diseases that are screened for during pregnancy or post-delivery, DMD was not included. Prior information would be essential to allow proper informed consent.

Having said that, given the positive result and the immediacy of having to face up to the diagnosis of a little boy who appeared to be physically fine was initially traumatic, but we cannot emphasise enough how the early diagnosis has helped us cope, plan and nurture Alex in the knowledge of his condition.

The immediate clinical meeting (at the point of diagnosis) was shockingly bad and completely mishandled. This is a common complaint from DMD parents.
We did have a fantastic social worker who pulled together a team of healthcare professionals who helped us out tremendously. They continue to provide an excellent framework for looking after Alex.

Thanks – so it sounds like the support you received post diagnosis was really effective? There’s a really strong case for DMD screening, but one concern is that you need to have the Family Care Advisors and other supports in place so people aren’t left to struggle alone. So I wondered what your overall experience was like?