Derry mother fighting for baby son's illness to be recognised at Stormont 

Baby Lewis, born July 2020, has lived his whole life with a rare condition currently not recognised as a rare disease. 

Jennifer, Lewis' mother, said she has found that many consultants in Northern Ireland do not know the best way to treat Lewis and it has left her feeling frustrated and abandoned.

Lewis requires full time care and Jennifer is calling for Lewis' condition to be recognised as a rare disease and for there to be more medical, emotional and financial support for all the families currently going through similar situations.

The mum of four hopes to take this matter to Stormont as she fights for the 18-month-old and his condition on a daily basis.

Jennifer, describes baby Lewis as "the sweetest most loving little boy" and "hugs and kisses all day long would be his ideal world."

However, after giving birth to her son, Jennifer explained she knew something wasn't right, "When Lewis was born, call it mothers instinct, I knew something wasn't right," she said.

"After delivery, we spent 24 hours in the ward. As a mum of four, three of which were very vocal at birth, I was a little surprised when there was little to no crying when Lewis was born.

"He was sleeping more than expected and had quite a lot of sick episodes. Part of me was thinking okay, every baby is different but in the back of my mind my gut was telling me something wasn't right. 

"In the days that followed, Lewis slept, he slept a lot. It was a struggle to get him to feed and very time consuming with the worry as every new parent has, "are they getting enough?"

"He had his heel prick on the fifth day and I really didn't think much of it until the dreaded phone call at nine days old. The endocrinologist in the Royal Victoria Hospital for sick children in Belfast rang that morning and briefly explained the situation with his results and asked that I bring Lewis up for more blood and to start medication that day."

Jennifer and Lewis travelled to the Royal Hospital in Belfast and were sadly told that Lewis had congenital hypothyroidism. A scan was arranged the following day which diagnosed Lewis with an ectopic thyroid gland. Little Lewis remains on a high dose of levothyroxine.

Jennifer continued: "It felt like a nightmare. Between going into panic mode and crying with worry. But, it was only the start of our journey with Lewis' condition."

Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland that affects infants from birth. It occurs when the thyroid gland fails to develop or function properly.

Some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth.

Jennifer explained: "Lewis has always had feeding issues. He has always struggled with bottle feeds since he was born and weaning was just a no go. He has a defensiveness with feeding, food and in general with his mouth.

"It's only been the past few months he's engaged in trying but every meal, and feeding in general, differs every time.

"Lewis is behind in his development; his walking, talking, feeding and sensory. He suffers from bowel issues; either severe constipation or severe diarrhea. He has random episodes of vomiting and unexplained skin rashes that appear out of nowhere. 

"Sleep for the past few months has just not existed. Melatonin was introduced a few months back and has been increased. It does help him go over to sleep at bed time but after an hour and a half, or two hours tops, he's wide awake with no intentions of going back to sleep."

Jennifer feels ever since Lewis was diagnosed with his condition, he was simply assessed, put on medication, and Jennifer was left to figure things out for herself. Jennifer was provided with a leaflet and told he would need regular bloods. 

For the first three months of his life, Lewis had regular bloods taken and was then referred to the paediatrics in Altnagelvin. 

Baby Lewis is 18 months old and was diagnosed with congenital hypothyroidism at just nine days old

Jennifer continued: "I am by no means wanting to say anything bad about the doctors or the nurses, they have been brilliant, but there is only so much they can do with what they have.

"I personally feel it's unfair for Lewis as he needs a specialist to monitor him and someone who fully understands his condition.

Expressing daily life with Lewis and the struggles that come with it has been difficult to explain to the paediatrics and the endocrinologist. 

"With this being one of many rare conditions, I feel that medical professionals need to understand that within the 30-60 minute appointment we go to every few months, explaining every single little thing in detail is impossible. 

"It's frustrating as a parent who is living with this every single day. I've had to basically beg for Lewis to have bloods done over the past 18 months when I knew he wasn't good. 

"I feel like I'm being made to feel like I'm crazy or being told to wait for his next appointment. A lot has been pushed upon the health visitor, who is the most amazing caring and considerate lady I have ever come across, but she has fully exhausted her level of involvement.

"The UK strategy for rare diseases and conditions needs to be a priority at this stage. England, Scotland and Wales are moving forward and making changes, addressing issues, and making improvements. 

"A signed declaration was made by our Health Ministers over the past few years as a promise to fulfil the needs of this community who are in desperate need of acknowledgement, understanding and care.

"These are babies, young children, teenagers, adults, and families that are being completely overlooked, in every aspect, suffering at the hands of our government. People in this community need more medical care, medical understanding, and financial help. 

"I've been in contact with a few local councillors and I've been in contact with quite a lot of professionals over the past few months but nothing seems to happen. I'm waiting on calls that never happen. 

"I started this journey with Lewis. My priority is Lewis. My priority will always be Lewis, but, this is a community of individuals that deserve the right to be treated with equality and respect- as much as anyone with a well known condition. 

"This is a plea for recognition, acknowledgement and understanding for the babies, children and adults that are silently suffering."

Rhoda Walker, chair of the Northern Ireland Rare Disease Partnership, echoed Jennifer's requests and explained the work the charity is doing in hopes to achieve it, "It can take five years or more to get a diagnosis from first symptoms," Rhoda explained, "And even when a diagnosis has been made, only five per cent of rare conditions have an identified treatment.

"We are working closely with key partners in the NI Rare Disease Implementation Group to ensure that the regional action plan works towards faster diagnosis and clear medical pathways for conditions.

"In addition, we are working to increase awareness throughout not only the health care community but society more broadly.

Rare conditions affect one in 17 people- that's more than 110,000 people across Northern Ireland- so rare isn't actually rare at all. 

"If there isn't a condition in your family, you just need to look to your friends, neighbours or work colleagues to find someone in this position.

"Living or caring for someone with a rare condition can be frustrating, challenging and sometimes lonely. If, like Jennifer, you are facing challenges, please don't struggle alone; reach out to our support hub.  

"NIRDP are here to help, can provide accurate information, help you navigate the health care and other systems and signpost you to relevant organisations.

"There's an opportunity for everyone to get involved to raise awareness and even an hour of your time could be so valuable to help this often invisible community.

"If you need support or information, or think you might be able to support us in our efforts please visit nirdp.org.uk or find us on social media."