Type 1 – Information

Spinal Muscular Atrophy Type 1

(Infantile SMA or Werdnig-Hoffman disease)

 

FACT SHEET

 

Usually doctors diagnose SMA1 within the first 6 months of life – and often before the age of 3 months. SMA1 is the most severe form of all the Spinal Muscular atrophies with a high mortality rate. Developing care options however, now can be used to prolong and assist in the quality of life for Type 1 SMA babies. This includes the possibility of using Cough Assist and or Bi-Pap machines.

 

In the early stages of diagnosis some mothers have reported noticing reduced foetal movement during the last trimester. All SMA children appear normal at birth before the deterioration and loss of movement in their limbs is noticed. Most symptoms appear before six months of age.

 

Key features include:

  • Poor head control or loss of head control since birth.

    Mack Darlington SMA1
    Mack Darlington SMA1
  • Weak cry and cough.
  • Difficulties swallowing and chewing.
  • Poor or lack of tendon reflexes.
  • Weakness of muscles of the chest wall.
  • Difficulties/inability to cough or breathe deeply.
  • Weakness of muscles of the arms and legs resulting in an inability to roll or sit.
  • A bell shaped stomach or belly breathing which results from using muscles and collapse of the chest wall.
  • Trembling (fasciculation) or shrinking (atrophy) of the tongue; clinical signs unique to children with SMA.

 

Intelligence is unaffected and like all small babies they are sponges and what they lack in the ability to move, they make up for with their brain power.

Keeping their rapidly growing mind stimulated can prove challenging with their physical ailments. A notable trait for these babies are their knowing eyes that watch, absorb and communicate in an astounding way.

Children with type 1 SMA and their carers face a difficult battle for survival. At constant risk of respiratory infection and pneumonia, and issues with feeding, constipation, airway maintenance and ensuring healthy bodily function presents real emotional, physical and financial challenges for parents.

 

First and foremost, treating the symptoms of the child is paramount for the child’s quality of life. Developing a care plan in the early stages of diagnosis will assist you in making some tough decisions later on. This coupled with being pro-active rather than reactive, will make your journey through SMA1 more bearable. There are a few options that you may like to consider they are listed below.

 

 

OPTION 1 – No treatment / Palliative care

 

This option is for those families who do not want to intervene with the progression of the disease and believe their child’s quality of life would be poor or wish to choose comfort care as priority. As with all life limiting conditions, palliative care is an option here. Opinions may differ considerably between families and clinicians, be influenced by personal values, or conflicting goals about perceptions of quality versus quantity of life, or whether one should prolong life or whether the priority is relief of the condition but as with all, at the end of the day these are your choices and you need to choose what is right for your family. Palliative care does not have to mean the end, it can be approached in a number of ways.

 

OPTION 2 – Non-invasive treatment

 

With the advancement of care options for SMA there is fast becoming a new normal in the treatment of the disease. These interventions can assist in improving quality of life and prolonging it.  Proper respiratory care and support help to sustain lung function and breathing, as well as making recovery from or preventing an illness possible. A bi-pap machine is vital to allow this to happen. The use of a Cough Assist machine will also greatly reduce the chances of severe illness, aid in recovery time if illness presents and assist with better quality of life. Speech, occupational and physical therapy should be introduced as soon as possible into the diagnosis to help assist patients and families throughout their journey.

 

Without interventions babies/children with SMA1 rarely live beyond 2, but they are there for families as a choice in the treatment of SMA. With the advancement of clinical trials for gene therapy research, many families have been given a life of hope ahead of them instead of a bleak outlook, and this is the most refreshing news about the treatment of SMA1 in the lifetime of the disease. These therapies are set to revolutionise the way the disease is treated in the future. A proactive approach in the early stages of diagnosis for the pre-empting of feeding issues, (with the possibility of getting a PEG (Percutoneous Endoscopic Gastrostomy placement) inserted in the stomach may be required. This could save on many feeding issues later on down the track. The use of bi-pap and cough assist can drastically change the outcome for an SMA1 patient. Chest physio and postural drainage (a position where the child is put at a sloping incline with their head and chest lower than the buttocks) also playing a vital part in keeping the patient healthy.

 

 

OPTION 3 – Invasive Treatment 

 

Invasive treatment involves the insertion of a tracheostomy (A tracheostomy is a surgical procedure to cut an opening into the trachea (windpipe) so that a tube can be inserted into the opening to assist breathing. A tracheostomy may be temporary or permanent, depending on the reason for its use.[1]) A tracheostomy provides a stable airway and respiratory support when other interventions fail. It is a widely used practice in America, but here in Australia many doctors frown upon this avenue of treatment. There are many associated issues with having a tracheostomy placed, and this procedure is not taken lightly. Families consider this option when they feel they can provide their child with good quality of life now and in the future. Quality of life issues are debated on this subject and again this is a personal choice, and must be discussed thoroughly with your support team and associated medical professionals.

 

 

 <<Download the Fact sheet here >>2a mack with ball

 

 

[1] www.betterhealthchannel.vic.gov.au

 

Information prepared by experienced Type 1 mothers – Julie Cini and Sharyn Colledge