Help Noah With Spinal Muscular Atrophy Type 1

Meet my beautiful and courageous son Noah

In 2016 Noah was just under the age of 3 months when his mother and I noticed, our healthy beautiful baby changed. Noah was limp, he slowly wasn’t moving his arms or legs, this progressively got worse, and he began choking on his secretions.

After several tests we were given the heart-breaking news that he was diagnosed with SMA type 1. This a genetic degenerative condition, which is life altering slowly robbing a child of there ability to move, eat, swallow, crawl, stand, breath , talk, and develop like a typical child, effecting every single muscle in the body, often leading to a fatal outcome. The next step was gut-wrenching, we were told to take him home and to enjoy the time we have. As the life expectancy of this condition doesn’t exceed past the age of two.

Over the following years we made everyday special for Noah, due to being very aware that we were living on borrowed time and a day we never wanted to face.

After research we learn of a new drug Nusinersin (Spinraza) that could possibly help Noah and improve his quality of life. Although the treatment is not a cure, we finally felt there was a glimmer of hope for Noah. However, it was devastating to find out that Great Ormond street hospital refused treatment as he was very weak and was on 24 hour ventillation, they felt noah was not suitable for treatment but rather palliative care. In spite of this, we continued to fight as this could potentially increase his chances of survival. After a lengthy battle and various medical and ethical meetings with medical professionals at GOSH . Finally, we were given the opportunity to try the treatment as part of a trail expanded access program at Great Ormond Street Hospital , Noah was among the first few to try this treatment on the program.

As we have been told and trained by Noah's various multiple medical professional teams, the drug does not work alone. It takes parents to put in the hard work, dedication, commitment, daily interventions of various types of muscle/lung physiotherapy, 24/7 postural management occupational therapy, 24/7 microscopic medical management and close observation to ensure Noah's airway safety. All of which to maximize and ensure Noah is able to thrive to live a safe full filling independent happy childhood just like every child deservers

Noah needs regular physiotherapy, hydrotherapy and other specialist therapy sessions. Whilst spinraza is a fantastic treatment, spinraza alone is like going to war with the best machine gun, but with no bullets. Physiotherapy, hydrotherapy and other styles of therapy such as DMI are imperative to Noah's development. Unfortunately the specialised help Noah needs is either just not available or even routinely available on the NHS. We are hoping to get Noah these sessions weekly to aid Noah's development, and much more such as music therapy, Drama therapy to help Noah emotionally which knowingly can take a toll.

Noah requires Specialist equipment As we've already discovered, there's quite a lot of things that isn't paid for by the NHS/government. When Noah was 5 years old We had to self fund Noah's electric wheelchair, as we had to wait nearly a year and half whilst our order was being processed by wheelchair services

before it arrived. During this time Noah had a hip operation and was not able to drive for a while he required a specialized manual wheelchair to get around, which the NHS would not pay for as he is entitiled to only one chair. Again, we needed to self fund for a manual wheelchair. There are already many other things in the pipeline that will not be funded such as specialised physio therapy and occupational therapy equipment.

Noah continues to thrive on the treatment and his entire professionals team at GOSH are all surprised how well Noah has responded to treatment, often commenting on how incredibly well Noah has done considering how fragile he was at the start of the treatment.

Yet to our dismay in September 2020 Noah had a down turn and was experiencing continuous complications. In January 2021 Noah was diagnosed with Ulcerative Colits Disease. Another chronic disease which effects noah on a daily basis with server blood filled diarrhoea, chronic pain , extreme tiredness, anaemi. All of which have caused further complications in Noah's care, currently Noah is the only SMA Type 1 child diagnosed with a secondary condition with Ulcerative Colits. Noah is having blood transfusions as well as lumber puncture periodically amongst various other types of treatments therapies. Unfortunately over the last two years Noah has missed out on a lot of muscular Physiotherapy due to the negative impact his secondary diagnosis. Noah is spending a lot of time acutely unwell.

Albeit, after two years of trial and error we are continuously having on going discussions with Noahs Gastric team at everlina children's hospital on how best to keep Noah’s ulcerative colits under control and in remission, so Noah can get his life back

Irrespective of this Noah is a bright, loving, adventures, wild and happy child. He wants to continually learn and explore as much as he can. Nothing stops Noah and he has a incredible fighting spirit that blows us away. No Matter what life throws at Noah, he always seems to come back fighting harder and stronger, with a brave perceiving smile. Despite the challenges and pain he endures on a daily basis.

The treatment continues to save Noah's life, but it's on us to make it a great one.

The time we have with Noah is unknown and we would like to give him as many memories and experiences as we can.

We are in need of getting a bigger car to fit in all of Noah's equipment! It's very difficult to go travel with the significant amount of equipment he needs. We have done some research and estimate the cost of the kind of car (MPV/Van/WAV) already fully adapted for Noah. We would need around anything between £40k to £60k for something suitable second hand. All the remaining funds outside the cost of a specialized car we will use to go towards various types of therapies and specialized equipment for Noah.

We are desperately trying to raise funds to purchase a vehicle that will be able to transport all of Noah’s much needed equipment such as Bipap, suction

machines, saturation monitor, cough assist, oxygen, electric wheelchair, manual wheelchair, among a list of emergency medical back up equipment and medical supplies. Along with Occupational Therapy equipment, all of which gives Noah quilty of life to live fully and independently to travel long distances and the chance to have over night stays

For specialised mobilty We would need to put down a huge deposit to go towards a suitable MPV/Van/WAV that would also need to be customized for Noah, Currently the waiting list is 15 - 18 months for mobility car, and some unknown time scale. Noah's diagnosis make day to day unpredictable, every day counts when you have a child with SMA Type 1 and our time with him is precious.

We would like to ask for your help in giving Noah the opportunity to live a full independent life.

Thank you for taking the time to read our story.