Month: October 2021

Fundraising and donations for Theo

Zolgensma is approved now in Ireland (since 8th October 2021) we luckily will not have to raise funds for this.

Theo will require a lot of specialist care and will still have SMA.
Your support is truly appreciated, no matter how small the amount.

If you would like to support Theo the current main way is on his GoFundMe page.

📣 Soon we will create a report on the page of the total funds.
📣 We are looking forward to setting up a specific bank account for him and that way funds can be sent directly.
📣 Please stay tuned as any fundraisers we do we will put details and pictures of the events here 😊

Some useful SMA information

Medline plus detailing SMN1 and SMN2 genes

Both of these genes detailed above code downstream for proteins that are needed for healthy development of motor neuron cells, specifically the anterior horn cells. SMN stands for Survival Motor Neuron and in individuals with SMA Spinal Muscular Atrophy the SMN1 gene is mutated. Generally the SMN2 gene copy number impacts the severity of the disease and the outcome of the different types of SMA. Type 0 and type 1 are the most severe types.

Mechanism of action from the same article is outlined and why it leads to SMA.

Researchers suggest that a shortage of SMN protein leads to the inefficient assembly of the machinery needed to process pre-mRNA. A lack of mature mRNA and subsequently, the proteins needed for normal cell functioning, has damaging effects on motor neuron development and survival. The loss of motor neurons leads to the signs and symptoms of spinal muscular atrophy. However, it is unclear why these cells are particularly sensitive to a reduction in the amount of SMN protein. Some research findings indicate that a shortage of SMN protein impairs the formation and function of axons and dendrites, leading to the death of motor neurons. While the mechanism is not clear, it is apparent that increased SMN2 gene copy number leads to an increase in SMN protein production, which improves the function and survival of motor neurons and results in less severe disease.

Source from medlineplus genetics page

Due to the lack of correctly working SMN protein, SMA individuals then experience muscular atrophy as signals are lost to the muscles which causes the symtoms seen in SMA. SMN2 shares only a single base pair difference with SMN1.

How do people inherit SMA ?

Healthy = 2 copies SMN1 (2 good copies of the gene)
Carrier = 1 copy of SMN1 (1 good copy and 1 mutated copy of the gene)

The disease is caused then when the child is born with no copies of SMN1.This happens when the child inhertis both mutated copies of SMN1 gene. There is also the SMN2 gene, which correlates with severity. SMN2 copy number is only of clinical relevance for the severity of SMA when SMN1 gene is mutated.

Carrier testing

Incidence is around 1:1000 births. In Ireland there are about 60,000 live births per year.

Approximately 1/40 to 1/50 people are SMA carriers in Ireland.
Thus, it is quite possible there are infants in Ireland missing this diagnosis.

For the reason above carrier-screening-for-spinal-muscular-atrophy is imperative as two individuals with the SMN1 mutation will have a 1 in 4 chance of a child with the disease.

SMA treatments

The prognosis is now much better since more is understood about the genetics of how this disease works.
Each year there is more research in the area and so it is expected more data and treatments will accumulate over time.

Breakthrough treatments for SMA

The most famous and bravest maneen

We’ve been up in Temple Street hospital now for a couple of weeks minding Theo as he had an incident at home. Suffice to say any SMA1s newly diagnosed make sure you have bibap, cough assist and suction machine at home. I know it is a lot to take in at first but we always wanted these devices since his diagnosis and luckily once we get home this time we will have everything we need to take good care of the little man.

The bravest and most famous man

Theo is such a strong man and pulled through this amazingly. He is now in Temple street hosptial in Dublin and we staying with him. He is doing really well and we are battling hard to get him Zolgensma as his once off treatment soon and we are hopeful for this to get him the state of the art gene therapy. The petition for Kate and Theo who would be the two children I believe right now would get the therapy in Ireland. It’s hard to imagine it has taking them this long over pricing negotiations, but I’m confident we will know more this month about it.

Thanks to Stephanie for setting up such an amazing Instagram page. It is doing absolutely super and it is so helpful to reach out to the amazing SMA community we now find ourselves in.

Theo and Kate were also featured in the Irish Examiner newspaper and all our family and friends are being an amazing support during this time.

Here is Theo doing his new favourite trick with his cow in the ICU only a few days he was being so brave getting back to his best form.