Morning everyone! There’s nothing any of us wouldn’t do for our children and when something dreadful happens it’s so lovely to see how quickly a community galvanises and mobilises to come to a family’s aid much as our lovely member Danny has here. Thanks Dan, it’s our pleasure to help Lena and send her and her family all of our love x
I have a nomination for consideration, a friend of mines Niece has needed treatment from birth and hoping we can help if at all possible.
Thanks mate their story is below.
I would like to tell you a story about my 3 year-old niece, Lena who has to deal with a very rare genetic disease. The name is CMT (Charcot-Marie-Tooth disease) CMT 2N, and the doctors found this out when she was 4 months old and we felt lucky that we knew this from a very early stage. There is currently no cure for this disease, but this can be changed by the constant development of research and science. With these donations I would like to provide the necessary developments, therapies, tools to slow down the process of nerve atrophy and muscle atrophy in CMT.
CMT is a group of inherited conditions that damage the peripheral nerves. It's also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy (PMA). The peripheral nerves are found outside the main central nervous system (brain and spinal cord). They control the muscles and relay sensory information, such as the sense of touch, from the limbs to the brain.
When she was born she had hammertoes and a dislocated hip. She was only 7 weeks old when she had her first operation to fix her toes as she born with hammertoes and dislocated hips. She was in cast for 7 weeks after the operation. Once that healed, she had to have achillotomy surgery where they cut her Achilles tendon to make sure she will be able to stretch her foot out. When she was 5-months old she another operation for her dislocated hip, and she had to have a cast for nearly 5 months after from her hip to her toes. It was a very difficult time for her and her family too.
My sister found a company called “Aproka Fejleszohaz” in Hungary – Budapest and another one in Hungary – in Sopron called – “Neurorehab” where they can help her with all of the therapies she will need to have.
She already needs to have Electrotherapy, intensive physiotherapy, Lokomat therapy, hydromassage, developmental therapies and massage. These therapies are quite expensive and I would like to support her and my sister financially, and make sure Lena potentially could walk. In these places they strive to start great movements with Lena, such as walking, kneeling, standing up and then walking alone. At the moment, these possibilities are very distant for Lena because the muscles in her legs are so weak. With the help of the therapies she has already started crawling but she still needs some help to put her knees under her.
If the muscles do not receive a stimulus from the nerves they will wither and there is no going back. We want to avoid this until gene therapy reaches the Lena type as well. Currently, experiments in CMT types 1 and 2 are limited to the letters at the beginning of ABC, so the types and subtypes that are common. Lena type CMT 2N it is so rare all over the world that there are about 10-11 registered patients worldwide. Currently, what we are focusing on is to strengthen the hypotonic muscles and solve the drop of the foot problem, as she is unable to move the foot, which is essential for independent walking.
I would like to support them with donations where they can pay for all of the travel and treatment expenses as each treatmet cost them a lot, and as soon as she gets these therapies there is more chance of her being able to walk, run and do all of those things that kids usually do.
I would like to thank you for taking the time to read a bit about my Niece, it means the world to us.