Category: Global

The 27th September is SMA awareness day in the UK this year, and to mark the day we thought that we would share a little bit of information about Spinal Muscular Atrophy. In particular we will talk about Type 1 as this is the condition that Ivy was diagnosed with.

We wanted to start this post with a disclaimer. We are not medical professionals and do not claim to be experts in this condition. This post is our account of events, as well as an overview of the information that was conveyed to us during Ivy’s diagnosis.

We will of course do our best to ensure that the information provided beyond this point is accurate and correct. If you have however spotted something that you have an issue with then please do not hesitate to contact us via the contact page on this website.

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Spinal Muscular Atrophy (SMA) is a genetic condition passed down via parents who are both carriers of SMA. SMA affects the signals that are sent to the muscles in the body and is also considered a neurological issue. We are going to explore a few things in this post and will try to keep things as simple as possible.

What are the signs of SMA?

When infants that have SMA are born they do not show any signs of their condition. As SMA is degenerative (gets worse over time) you may not see any issues or anything that causes alarm until months after the infant is born.

So what are the signs? In truth the main sign is that the baby will not be reaching their motor development milestones. They will appear hypotonic (a posh word for floppy) and will not be able to support themselves. An indication of the severity of the condition, is when this is first noticed. If the child is younger that six months when these signs first start to show then the likelihood is that they will have Type 1.

What do the types mean?

SMA is a condition. The types do not differentiate symptoms or affect different people based on any factor other than the genetics passed down from mother and father. Type 1 is the most severe form and Type 3 is the least severe.

Those diagnosed with Type 3 may not ever be able to walk and will live with their disability as it does not affect life expectancy.

Type 2 is more severe and usually shows up in babies and toddlers. Type 2 can shorten life expectancy but most with this type will live into adulthood.

Type 1 is the most severe and is noticable usually before six months of age. Unfortunately, the earlier the diagnosis, the higher likelihood that this condition will mean that the children won’t live beyond their second birthday.

Ivy flew through the first six weeks and hit all of her milestones, and everything seemed perfect. it was later that we became concerned about Ivy’s movements. She seemed to face one way constantly and did not have head control. She hated tummy time as was noticably floppier than another baby we knew that was ten weeks younger than her. She didn’t seem to move her legs or arms much and her hands were in a constant fist.

We tried to get Ivy seen by a doctor and eventually did. She was first misdiagnosed with bronchiolitis but later we were seen by a specialist peadiatrician who had more tests run, confirming our fears.

With Ivy being diagnosed so early it was clear that she had the condition as bad as she could have it.

What causes SMA?

SMA is a genetic condition and therefore works like a lot of other genetic conditions. There are a few facts that you need to know about genetics to help us understand just what causes SMA so here we go:

• Genes come in pairs
• Our genes control everything that makes us who we are
• Carriers of a genetic condition have one good and one bad copy
• The good copy outweighs the bad

So…in it’s simplest form when two carriers of a defective gene have a child there is a chance that the bad copies will be passed to the baby which will result in the condition.

From the infographic above you can see that there is a 50% chance that the child will be a carrier, 25% that they we have two health copies of the gene and a 25% that they will have SMA.

If a carrier of SMA has a child with a non-carrier, then the non-carrier will always give a healthy version of the gene and therefore their children will not be in any risk of having that condition.

How common is SMA?

SMA is the biggest genetic infant killer in the UK as there is not currently a cure. Around 1 in 50 people in the general population are carriers so the chance of meeting someone else with the carrier gene is 1 in 2500.

If these two people do find themselves together they they themselves have a 1 in 4 chance of conceiving a baby with SMA.

So, in the general population the chances are around 1 in 10,000 that you are a carrier, you will meet another carrier and then go on to have a child with the condition.

These odds seem to be good however 1 in every 6000 babies born will have a form of the condition.

What can be done?

There are medicines available to help manage SMA which work long term in cases of Type 2 and Type 3, however all of these medicines are still in their infancy and do not have years of data behind them.

There are invasive medicines that require injections through to the spine every four months that have recently been accepted by the NHS as a treatment path.

There are also clinical trials currently ongoing looking into oral medications to be taken daily as well as gene therapy trials which look to treat the condition at its root.

The biggest issue is that in many cases by the time that you have found out that your child has SMA Type 1 they are too poorly to be considered for treatment.

It is however possible to screen for SMA in pregnancy, but this is not yet a standard test that is run, nor is it something that can be asked for without prior knowledge of the condition being part of your family history.

The reason that this is not yet available is because it is not possible to know which type of SMA your child will have. This then raises conversations about the ethics behind giving people the opportunity to terminate a pregnancy based on the result, when it is generally accepted that those with type 2 and 3 can be managed with medication and care.

There are many people who have been struck by a similar tragedy who are however campaigning to get this check to become more widely known and accessible upon request.

What does our future hold?

Whilst it is amazing that we have so much knowledge about what makes us who we are and how fragile we are, it is also hard to know that something inside each of us ended up giving Ivy her condition.

We will never be able to hold her again and coming to terms with that is a battle that will still fight everyday. But knowing also that our future is so uncertain, that all of this could happen again (25% chance) is a very scary thing.

There are options available through assisted routes of getting pregnant and screening before the embryo is put in the oven, but these are all decisions that are too big for us to make right now.

What does our future hold? If you know then please let us in on the secret!