Charlotte's story, SMA and Nutcracker syndrome

Hi my name is leanne and I'm raising money for my 25 year old daughter Charlotte, who has two rare syndromes called SMA syndrome and nutcracker syndrome as well as an IBD and prolapses ,these syndromes are lifethreating and she needs specialist care and treatment that she can only get abroad in America and Germany,

These diseases are progressive if treatment isn't available, no drs in the uk can help her as they know very little about these syndromes and this operation she needs has never been done in the uk thats why we need to try and get her abroad ,

She has had an operation in the uk to redirect the bowel from the compression, which affects the duodenum and bowel as well as the blood supply and causes obstructions ,seizures and malnutrition, which are lifethreating in themselves,

Unfortunately this operation had little affect and has not helped her due to late diagnosis of this syndrome , she was already 5 years into the disease before the diagnosis and operation was performed, she is still getting obstructions as well as being extremely ill ,

The long term progression of these diseases are not good without the treatment ,but the few people who have had this treatment have lived a better life in less pain and life has been prolonged,

This is why I am here now desperately trying to raise money to help her get this lifesaving treatment abroad and the cost it incures to get her this lifesaving treatment , which I can not do by myself

Myself and my daughter have had no lives in 5 years , she has spent 47 months out of 60months in hospital with no help or treatment, we have not had a good experience with the nhs and she has been treated very poorly ,its been emotional and financially draining , watching my daughter deteriorating and slowly loosing her life with no help or support and the nhs failing her terribly,

Now is the time we need to take action and get her this treatment abroad she so desperately needs ,

I am hopeful to raise enough money to get her the help she needs abroad , praying we can get this help before it's to late ,

Also i want and need to spread awareness of this horrible disease , as it is not really known about in the uk

Please help and spread our story as much as you can ,hopefully there may be a Dr out there in the uk that could help us ,

but it seems going abroad is our only hope now ,

The dr in Germany has treated patients with sma syndrome and has had good outcomes ,but unfortunately due to the nature of this disease and the complexity of the operation it is lifethreating ,but she will end up loosing her life if we dont try and get her this treatment abroad ,

praying everyday for a miracle

We have now located another Dr who is currently teaching his lifesaving procedure in America called the alvear procedure, he I willing to come to the ul and teach this lifesaving procedure to a compassionate uk surgeon who wants to learn ,be the first in the uk and the only surgeon who is trained in this procedure to help my daughter and others in the future

I have attached a summary of what sma syndrome disease is and how it affect the person, unfortunately my daughters diagnosis was ignored and delayed for over 5 years

Superior Mesenteric Artery (SMA) syndrome and Nutcracker syndrome are rare vascular compression disorders. SMA syndrome involves compression of the duodenum, while Nutcracker syndrome involves compression of the left renal vein. Both conditions can result from a narrowed angle between the superior mesenteric artery and the abdominal aorta, leading to compression of surrounding vessels and organs.

SMA Syndrome:

Mechanism: The duodenum is compressed between the SMA and the aorta, often due to a reduced aorto-mesenteric angle.

Symptoms: Can include nausea, vomiting, abdominal pain, and early satiety.

Occurrence: While rare, it can be more common in individuals experiencing rapid growth or significant weight loss.

Severity: Can be life-threatening if not recognized and treated early.

Nutcracker Syndrome:

Mechanism: The left renal vein is compressed between the SMA and the aorta.

Symptoms: Can include blood in the urine (hematuria), flank or back pain, and protein in the urine.

Occurrence: Less common than SMA syndrome, and often discovered incidentally during imaging for other conditions.

Severity: Symptoms can range from mild to debilitating.

Combined Occurrence:

Both conditions can coexist due to their shared anatomical origin, although this is rare.

The co-occurrence can pose diagnostic and therapeutic challenges.

A multidisciplinary approach may be necessary for diagnosis and management.

Treatment:

Treatment options can range from conservative management with nutritional support to surgical interventions, such as vessel transposition or bypass.