A young south Armagh mother – diagnosed with a rare and life-threatening disorder – has spoken of the “absolutely horrendous” toll it has had on her family and darling son as an online appeal continues to help cover medical fees.
Amanda McTaggart, originally from Camlough and now living in Mullaghbawn, suffers from Ehlers-Danlos Syndrome, a rare genetic connective tissue disorder. It is a progressive condition with no current cure or specific treatment.
It requires attending consultants in London, and may necessitate surgery overseas, as only two surgeons worldwide will touch it.
To that end, a gofundme page has been launched to try and help access the specialised treatment which Amanda – who has a four-year-old son Ethan – needs.
Amanda told Armagh I : “This illness has cost us thousands and thousands as a family already and we have completely run dry of options.”
Ehlers-Danlos Syndrome affects Amanda’s entire body including her joints which all dislocate daily and cause extreme pain and discomfort. All her vital organs are affected and these, or her organs, could rupture at any time.
She is under a private specialist based in London as he is the only one who knows about the condition and how to help her.
Amanda uses a wheelchair mostly along with rollators and crutches depending on her ability at that time and uses a cervical neck collar to stabilise her cervical spine.
There is no funding available on the NHS for any of this.
She also has many other conditions including Mast Cell Activation Syndrome, leaving her with a long list of life threatening allergies. This list and the severity of the reactions are growing daily.
Currently she relies on a carbon filter mask to help lessen the amount of triggers entering her body. She has multiple hernias and prolapses and struggles to swallow as cricopharangeal spasms make this difficult as the muscles do not coordinate as they should.
Amanda has spoken of the toll the condition has had on her family and on herself personally as a mum.
She said: “As a family this has been completely horrendous to cope with, my little boy being pulled from pillar to post while I am either in hospital or getting treatment.
“My parents live with me and my son full time and I have little say in his day to day life which is heartbreaking as a young mother.
“I miss out on his football, his swimming lessons and even so much as seeing him play outside.
“My allergies due to one of the list of conditions I have due to EDS, makes it almost impossible to have visitors and to basically go anywhere without the threat of an anaphylactic reaction.
“I can develop a reaction to anything at anytime, including sunlight and water.
“Every time I’m admitted over here, I’m teaching the Consultants about my condition. They really have no idea how very complex it really is.”
The most recent events for Amanda were being blue lighted to hospital by ambulance on January 15 and again on February 20.
On the first occasion Amanda was kept in the hospital for two days, due to her neck being unstable and causing excruciating nerve pain in the head and eyes and major issues with her jaws making it hard to even eat. These conditions are called Trigemenal Neuralgia (the worst pain known to medicine) and TMJ dysfunction.
Thankfully, the first time the A&E consultant and his team in Daisy Hill Hospital in Newry were able to manage the pain via IV morphine and administered IV fluids and Amanda got home quickly.
The second time however was a completely different story as she is now unfortunately allergic to morphine which meant it took them a lot longer to get her pain under control, which resulted in her being in the hospital for two weeks in pain.
The nursing team said they had not seen anyone in this level of pain for a very long time, bearing in mind this was a surgical ward. The two weeks were spent trialling medications while hoping she didn’t take a fatal reaction.
Amanda is now on 36 oral tablets per day – some being medications used for cancer patients – and four syringes of liquid pain relief. These are constantly being upped in strength as her condition worsens and has been told she will soon run out of medication options to control her pain.
The family want and need to help Amanda being able to enjoy seeing her beautiful wee man Ethan growing up.
Amanda had a private scan in London on Wednesday, January 23, as there is no machine here for this.
The specialist doctor confirmed Atlantoaxial Instability (internal decapitation) and Craniocervial Instability.
Family found out two days later the results and what the next step is regarding surgery and treatment as this condition can be fatal with any wrong movement of her neck.
Amanda now has to go back to London for another urgent scan and then to see her specialist straight after it.
This is combined with his team of specialist neurosurgeons and physios. Unfortunately none of these appointments are NHS funded and taking into consideration the travel and accommodation, is all amounting to a large sum.
Said Amanda: “This illness has cost us thousands and thousands as a family already and we have completely run dry of options.
“My own parents and family having to watch me in so much pain and as doctors trial drugs which may cause fatalities is so hard and I feel I am the strong one who tries to hold it all together.
“We have had some help with wheelchairs and walking aids off the NHS but after years of asking for help my house is still unfit for me.
“I spend my days up in my room or face the task of crawling back upstairs if I do come down. I usually only leave for appointments, which are a gruelling task as I’m screaming in pain trying to crawl back up to bed afterwards.
“I feel so sorry for my poor family having to witness this and trying their best to hold it together while in my room.
“Going forward I am going to need long term treatment from this team in London as no doctors are knowledgeable enough in my condition to treat me here.
“Every penny counts as this is going to be a back and forth journey between home and London and at this stage we have no idea how long they will need me there for, so hotel costs and travel will amount to a huge chunk alone.
“We expect multiple journeys. These scans and specialists are extremely expensive. The upright MRI only exists in London and Manchester and my team are world renowned specialists in Ehlers Danlos Syndrome.
“We as a family are so grateful for everyone who has helped so far and anyone who helps us in the future with our journey with Ehlers Danlos Syndrome.”
Amanda and her family are hoping to get as much help from the public as possible to help them ongoing treatment.
If the level of Atlantoaxial Instability – internal decapatation of the top neck joint – has worsened enough not to be managed with her neck brace and specialist physio alone, she is looking at major surgery.
This spinal neck fusion is only undertaken by two surgeons in the world, one in America and the second in Spain. This surgery alone is £100,000 so the amount needed on her page may change after this trip.
The family have thanked everyone for their support to date and appeal for more assistance as they aim to “get Amanda to where she needs to be – healthy and with her little man”.
Added Amanda: “We have had a good response and local support so far, I’m just afraid of running dry and not having access too certain specialists over there, such as genetics which may offer help with her metabolising medications ten times as fast as the normal person.
“It we reach any higher the money can towards making my house or car more accessible, and I will always have to travel back and forward, so as far as we can push this the better, I believe.”
“If we reach any higher the money can towards traveling back and forward, so as far as we can push this the better, I believe.”
If you can help in anyway please give what you can by visiting the link below: https://www.gofundme.com/action-4-amanda
“We as a family are so grateful for everyone who has helped so far and anyone who helps us in the future with our journey with Ehlers Danlos Syndrome.”
