As Harry sat in the middle of his new ‘Jungle Gym’ play mat, Michelle became increasingly worried. She was noticing unusual signs in her six-month year old son that had never concerned her before. Today something was strange in Harry’s behaviour. He wasn’t playing as normal nor was he crawling around as much. Any loud noise would startle him and when Michelle looked into his eyes, she could see tiny red dots near his pupils.
As the morning passed, Michelle became increasingly worried. Harry had stopped feeding and started to drool an excessive amount of saliva. He was also having difficulty with his breathing. She knew she could not wait any longer. She needed some help, or some reassurance at least that everything was normal. She picked up the phone immediately and booked an emergency appointment with her GP.
‘Dr Smith’, Michelle said anxiously, ‘what is going on with Harry? Look at these spots at the back of his eyes’.
Dr Smith took out a pen torch and shone a bright light into Harry’s eyes. She asked Michelle a few questions and examined Harry from top to toe, listening to his heart and his chest together with assessing the movement in his limbs. Harry seemed very distant and disengaged. Michelle burst into tears. ‘ Don’t worry Michelle. I need to take a sample of Harry’s blood, is this okay?’ asked Dr Smith, trying to hide her tone of concern.
‘Yes,’ replied Michelle, as she wiped away the tears from her cheek.
Dr Smith pricked Harry’s heel and sent a sample of his blood for immediate analysis. Michelle was asked to wait in the waiting room of the surgery until the results arrived. Time was going by slowly and Michelle’s fears escalated as she waited and prayed for her baby boy. She could tell something was not right.
‘Michelle, do you want to come in?’ called Dr Smith from her office. Michelle gathered all her belongings and quickly hurried into Dr Smith’s office, eager for some answers. Harry was fast asleep in his pushchair. ‘What’s happened Dr Smith? Is everything okay?’ she asked.
‘Now Michelle, I’m about to give you some very important news. Would you like to call your husband?’ queried Dr Smith.
‘My husband is away on business. I’m going to see my sister after work. It’s okay, I’ll be fine. Please tell me what’s wrong,’ Michelle wailed, apprehensively.
‘I’m afraid Michelle; Harry has a very rare and fatal genetic illness called Tay-Sachs disease. This condition causes progressive damage to the nervous system, which is the cause of all of Harry’s symptoms,’ Dr Smith slowly started to explain. Michelle was speechless. Her eyes turned red and filled with tears as her heart started racing. ‘What does this mean?’ she asked.
‘With Tay-Sachs disease, babies develop normally until around three to six months, after which their growth is much slower and they gradually lose their ability to move. They suffer from muscle stiffness, swallowing difficulties, loss of vision and hearing, muscle weakness that can progress to paralysis and are vulnerable to infection and seizures. This condition is also the reason for Harry’s lack of interest to play,’ continued Dr Smith. ‘Are you okay, would you like a tissue?’ Dr Smith offered Michelle as she wiped away her tears.
‘Harry consequently has a chest infection, which we need to monitor in hospital. I’m sorry, Michelle’, empathised Dr Smith. ‘Do not blame yourself. You haven’t done anything’.
There was silence. Moments later, Michelle tried to sequence a sentence together. ‘How… did I… pass it on… to him… without knowing?’ she sobbed.
‘It wasn’t your fault, Michelle. Tay-Sachs disease is caused by a specific mutation in the HEXA gene, which results in the body being unable to produce an enzyme called Hex-A. Without this enzyme, a fatty substance builds up in brain and nerve cells, interfering with their normal function and eventually destroying them. Although you and your partner are not affected by this mutation, you are both carriers of this abnormal gene, which Harry has unfortunately inherited from both of you. This has caused him to develop the rare condition,’ explained Dr Smith. ‘There are screening tests recommended for people in high-risk groups. However, in the UK this includes people of Ashkenazi Jewish descent, as it is considered that 1 in 25 Ashkenazi Jewish people are carriers of this mutation, or anyone with a history of the condition in their family. Unfortunately, this is not the case in your situation Michelle; hence you were not offered the antenatal screening. The testing comprises chorionic villus sampling or amniocentesis depending on the length of your gestation, but due to the high risk of complications and severe damage to the foetus caused by the screening techniques, we do not routinely offer it to all pregnant women’.
‘But will Harry be okay?’ Michelle asked, distressed. ‘That is my main concern.’
‘He is in good care now, Michelle. You’ve done the right thing by bringing him to us as soon as you noticed any changes. I’m afraid there is no cure for the disease currently and research is still at an early stage. However, we can treat and manage his symptoms to make sure he is as comfortable as possible. We are going to prescribe him some antibiotics for his infection and relieve his feeding difficulties. I am also going to refer him to a specialist centre so he has the best care for all his symptoms. Stay strong, Michelle, there is still hope’, comforted Dr Smith. ‘Most children struggle to survive from the complications of repeated infection, but we will manage these to the best of our ability in Harry, Michelle and he will be okay. He is a soldier, and he will fight any obstacles that cross his pathway’.
Michelle was wordless. All she felt like doing was crying. She held onto Harry’s hand as tears streamed down the side of her cheek. ‘You’re my little soldier, Harry. My little soldier.’