Babies born with HHT

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All babies born in Ireland are screened for 8 rare conditions between 72 hours (3rd day) and 120 hours (5th day) after birth.  This ensures that babies with these rare conditions can be given early and appropriate care and treatment.  This is commonly known as the ‘heel prick test’. It involves taking a small amount of blood from a baby’s heel onto a screening card for testing.  These screening cards are sent to the National Newborn Screening Laboratory, Temple Street, Dublin, where they are analysed for the following rare diseases:

  • Phenylketonuria
  • Galactosaemia
  • Homocystinuria
  • Maple Syrup Urine Disease
  • Medium Chain Acyl-CoA
  • Dehydrogenase Deficiency
  • Glutaric Aciduria Type 1
  • Cystic Fibrosis and Congenital Hypothyroidism

What about HHT?

HHT does not belong to the list of these rare conditions and therefore parents who live with HHT must keep in mind that their child has 50% chance of being born with HHT.

Children are considered potentially affected, even if there are no obvious clinical signs.

The genetic diagnosis through a screening for pulmonary AVMs can be done after the age of 5 years.

The doctor must have a conversation with the parents and provide them with information.

Cord blood screening is not yet systematic in Ireland. However it can be used to provide a brain and spinal cord MRI between 1-6 months.

When should I take my baby to the doctor’s first visit?

The public health nurse (PHN) should visit the mother and baby within 72 hours of discharge from hospital as part of the National Health Childhood Programme.

It is also recommended you develop a follow-up plan with the healthcare team before you leave the hospital. The team will make sure that you recognise the early signs or symptoms of any problems that may arise.

The mother and baby should attend the GP when the baby is six weeks old. This visit is covered under the Maternity & Infant Scheme.

This first consultation is meant to follow-up on the baby and make additional screenings to ensure the baby is in a good condition. It is also an opportunity for parents to ask their questions and share their worries if needed. The doctor will answer the parents’ questions, reassure them and guide them.

We advise parents to specify all the information about HHT and share your HHT family history. This will enable the doctor to prepare and treat your baby better.

Can I ask for a screening for HHT when he/she is still a baby?

Screening for HHT is usually done when the baby has reached puberty, unless otherwise suggested by your HHT specialist. However at birth, it is possible to have genetic testing done using a blood sample from the umbilical cord. Please talk to your gynaecologist for more information as this is not done as a matter of routine with all new HHT mothers

What do I need to know to be careful and take care of my baby?

Your new baby is so very precious to you. You will not know immediately if your baby has inherited the HHT gene – but this does not matter.  Love and care for him/her just as you would care for any precious baby.  There is no extra-special care required by you unless your baby experiences any complications. Trust in the medical experts who will advise you accordingly.  

 

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