A helping hand & high hopes for Harry - SMA type 1

This is our gorgeous baby boy Harry, who is our IVF miracle. On the 7th of October 2021, Harry was sadly diagnosed with SMA Type 1 (Spinal Muscular Atrophy). We will never forget that day for the rest of our lives - that was the day that changed our lives forever. 

SMA is a genetic neuromuscular condition that causes muscle weakness and wasting due to the loss of motor neurons. Harry is missing his SMN1 gene which is needed to make sufficient protein in his body along with his SMN2 to keep them alive. SMA also causes respiratory distress and many other complications relating to muscle weakness. Type 1 is the most severe case and without treatment, babies would pass away by 2 years of age.

 

From as young as 2 weeks old, I started taking Harry to the GP over concerns I had initially with his breathing and then continued to take him back due to other concerns with certain milestones he was not meeting. By the time Harry was 3 months old and numerous GP appointments with no concerns, I became sick with worry as his head control was getting worse, not better & he was not kicking his legs at all. After attending the hospital and being told that he had another upper respiratory infection and was probably slightly delayed, I had to take further action and get my health visitor involved. She spotted that Harry had very low muscle tone and was way behind where he should be at that stage.

 

From that moment on we were taken seriously with our concerns and they started the process of investigations which included many tests and we were finally able to get his diagnosis confirmed when he was 4.5 months old. Luckily and thankfully in 2021, the NHS brought in the brand new gene therapy Zolgensma, which saved Harry's life by giving him a copy of the smn1 gene back. However, he was 6 months old by this stage. Zolgensma is a miracle drug in itself as it cuts the disease from getting worse and will improve parts of Harry, but this is not a cure for SMA and it will not bring back what has already been lost. Harry was very symptomatic and unable to move at all by the stage of treatment so now he has long-term disabilities and specific needs, which will continue and need to be met throughout his life. We cannot be told what will become stronger, how much he will improve or how much is completely lost, being such a new treatment. It is a wait and see situation, but we are so grateful he had the treatment that kept him here with us, whatever the outcome brings. 

 

Since the treatment, Harry has made significant progress with his upper body strength, mainly arm movements which is amazing. However, he can not yet hold his head or sit unsupported. He does not move his legs much and will most likely be in a wheelchair throughout his life. He is NG (nasal gastric) tube fed via a feeding pump and we have had to refer him for a stomach peg due to his very weak swallow. This has improved slightly since treatment, so we can now provide small tastes of purees on good days. He has a cough assist machine to help him cough, a suction machine to help with secretions, and he uses a bipap ventilator throughout the night to support his breathing. Harry is now nearly 12 months of age.

 

Since being in and out of hospital for 6 months of Harry's life we were unable to assess exactly what we needed. Now that our home life has stabilized, a little, we have had the time to think ahead about what Harry and ourselves are going to need to be able to give him the best quality of life he can possibly have.

 

This includes:

 

Private physiotherapy sessions - Whilst Harry has monthly physiotherapy sessions at the hospital; it is not enough so we have started to get him additional private physio sessions to help build up Harry's mobility & strength as much as possible whilst he is still so young. This is costing us currently £75 per week per session. We have had to cut this down to every other week but ideally want more for him. We were told that whilst Zolgensma helps, it is not enough without the aftercare of physio. The doctor described it like going to war without bullets.

 

Intense physiotherapy courses - These are about £1,000 for a week's course and not local to us so travel would be included. We feel Harry would benefit so much from these courses to add in specialised advice and help with his condition. 

 

Hydrotherapy - We want to start getting Harry private hydrotherapy as his legs move the most in the water, and this is an excellent exercise for him.

 

Additional equipment - Whilst we get essential equipment funded, this is basic, and any adaptions or special additions we want for him we need to fund ourselves, which is very costly. We also need to purchase home physio equipment to be able to help him practice certain positions comfortably & supportively. All of which is additional money that we currently do not have.

 

House adaptions - This is the most costly part and now we are a one-income household it is going to take a long time to save even a quarter of what we need in the time we will require it. We will need to make lots of additional adaptions and extensions to the house to be able to meet Harry's needs once he is more mobile and especially in a wheelchair. We also require more room downstairs to be able to store all of his equipment we now have in the main living areas of our house. We will require the garage to be converted into his therapy room and his bedroom with an accessible shower. The front door needs to be moved and altered to be able to fit in his bulky equipment comfortably, and the conservatory needs to be made more disabled-friendly all year round, so we have a comfortable lounge for him all on one even level. Making these adaptions to the property will allow him to have as much independence as possible and he will be able to access all rooms and the garden easily as he grows older.  

 

Whilst this has been the worst and most fearful experience of our lives, Harry is our world and the happiest, most content little boy we could have ever wished for, with a bright future ahead of him. We never thought we would be in a position to have to write a page like this (who does) but we are now realising how expensive all of this is going to be, on top of daily living expenses and being honest we just do not have the funds to do it all. We are really grateful for any help or donations you can offer so we can put it towards the above and properly be able to give him the best chance at overcoming his disabilities and living his life to the fullest and as independently as he can.

 

We fully appreciate not everyone is in a position to be able to donate but we would like to take the opportunity to thank you so much for reading our story; if you wish to follow Harry and his progress, please click this link to his instagram page