Daria's Gene Therapy Journey...

Q:  How old was your child at the time of receiving GT and what is their

      current age?

 

A:  Daria has got GT in March 2018. She was 7 at that moment. Today she

      is 9.

 

Q:  Before GT, would you have considered your child to be

 

·       Mild (some physical function)

·       Moderate (relying on medication for function)

·       Severe (very limited physical function even with medication)

 

A:  Before GT I considered Daria to be severe (no physical functions besides mimic movements of her face, no voluntary                      movements even with medications,critical weight and lots of complications of AADC which were devouring her). Honestly

     saying Daria’s condition was critical at that moment. I really was afraid she might pass away in 2-3 months before GT and I              prayed God to keep her alive and give her a chance for GT.

 

Q:  Which version of Gene Therapy did they receive – Taiwan/Japan (Target Area Putamen) or USA (Target Area VTA &                   SNpc)?

 

A:  Daria received Japanese version of GT – target area was Putamen.

 

Q:  What was the recovery period after GT like and how long did it last?

 

A:  I consider that the recovery period should include not just time of stiches recovering but the whole period of dyskinesia after        surgery. Daria had two main complications during the recovering period. The first one was the stiches on her head. One of              them recovered rather quickly (as I see in 2-3 weeks). Another one did not, so doctor had to put special metal staples  and              prescribed Daria wound healing ointment. As I can remind the second stich had been recovering about 1.5 months.

     The second and the most serious complication was dyskinesia. It started about 3 weeks after surgery and was extremely                tough during the next 6 weeks. After 3 months dyskinesia began to reduce and in half a year it almost disappeared. Saying            “dyskinesia” I mean involuntary choreic contraction of muscles over the body as the result of temporary excess of dopamine.        It expressed in uncontrolled permanent movements of hands, legs, tongue, etc. Due to them it was really difficult for Daria to        eat or to sleep. On the other hand Daria managed to avoid other difficult complications of surgery like pneumonia.

 

 

Q:  Which symptoms of AADCd do you believe have improved the most by the treatment?

 

A:  It’s rather difficult to choose one or two improvements because Daria has changed absolutely. Saying in common before GT I      was really worried about Daria’s life, after GT – I’m not. There are the main changes below:

  • Oculogyric crises became lighter. They keep their frequency at the same level as they were before GT. But now they don’t cause Daria any pain. They still don’t finish themselves as it was before GT. But now they don’t take any parent’s efforts or any medications to make Daria to fall asleep and break the attack

  • Just after two weeks after surgery Daria started to eat a lot. Now she requires a portion like for an adult. She got weight from 13 kg before GT up to 24 kg now.

  • Daria’s muscle tonus is getting uniform and achieving the normal level. Before GT she had mixed tonus that bended her body. Today her body is getting strong and straight.

  • Daria’s muscles started to work. All this time Daria is learning to operate and to control her muscles. Step by step she learned to keep her head (in 4 months after GT), to roll over from back to belly and back (in 6 months after GT), to operate her hands (left after 6 months, and right after 8 months), to keep her back (after 10 months). Now she is trying to seat herself with crossed legs.

  • Daria’s intellect began develop very quickly. She takes all knowledge at the classes more surely. Now she knows half of alphabet, numbers from 1 to 6, body parts, animals, fruit-vegetables, dishes, clothes etc. Moreover she enjoys doing any exercises and works carefully at any lesson.

  • Daria has got able to communicate. She can answer simple questions with communicative buttons or showing Yes-No moving her head or using showing gesture.

Q:  Which medications after GT have you been able to stop taking?

 

A:  About two weeks after GT Daria stopped taking bromocriptine. About 4 months after GT Daria has got able to refuse medicines that earlier          helped her to break attacks (melatonin, diazepam etc.). Now she can fall asleep herself and break the attack this way. About 9 months after          GT Daria managed to refuse nasal drops (oxymetazoline, ksylometazolin).

 

Q:  Have you had to start taking any medication after GT?

 

A:  No, she hadn’t.

 

Q:  How has GT changed your child’s and family’s lives?

 

A:  GT presented Daria a new life. Our family celebrates the date of GT as the second Daria’s birthday.

  • Before GT Daria’s condition was very bad, she was losing vitality from day to day. It was very difficult for her to live. And so was our family. Everything she could do against the disease is to smile and to love everyone around by her true pure selfless love.

  • After GT Daria has got plenty of new opportunities: to taste other food, to communicate with parents, to choose clothes for the day, to express her will. Daria and all our family are absolutely glad to every achievement, to every new skill. She is loving her life more and more. For a long time after GT doctors and rehabilitation specialists was wondering and saying “it can’t be”  - now they say “let’s go, Daria, you can”.

      Of course, that is just the beginning of the long way we have to walk. We often leave home to provide Daria the best                       rehabilitation we can and spend for it all our poor money we earn. But now we can see the light at the end of the tunnel.                 Daria’s results and improvements inspire us and give us forces for further fight.

 

Q:  Would you recommend Gene Therapy to other families?

 

A:  Yes, surely! Dear AADC families. It’s a great happiness not only continue your children’s lives but to give them a chance to              feel, to try and to enjoy a lot of more than they can now. I see that GT is a big risk and it is the experiment and nobody can say      what may happen tomorrow. But a huge piece of happiness you can present to your children is worth it! If you can just do it!

 

     Believe in magic!

Daria's Gene Therapy Journey

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