Hello, my sister was diagnosed with Moyamoya a few years ago.

Since her diagnosis, no help or support of any kind has been offered.

We live in Coleraine, Northern Ireland. There aren't even 2 million people living in NI, so chances are the doctors have never seen this before.

My sister, who is 38, had a stroke when she was four and when she was 11. She has had different health problems through out her life, none of which were seen to be related until the diagnosis - she had epilepsy in her teens, stuttering, slight involuntary spasms, sometimes dazy/dreamy, constant headaches, a tingling in her right arm, and recently she found out that she should have been wearing glasses since childhood.

As a result of the strokes she has a limp on her right leg and does not have full use of her right arm and hand.

A lot of the symptoms seemed to have eased off with age. Apart from the strokes, it was throughout puberty that she showed the worst symptoms. The epilepsy and stuttering and the spasms have now nearly disappeared and she became noticeably more alert.

But she has been admitted to hospital this week because of severe headaches and vomiting and difficulty walking. A scan showed some scars, but the doctors are unsure if they are from the past. My mother says that my sister was ill exactly like this before her last stroke, when she was 11.

Surgery has never been mentioned, nor has any integral approach to her illness - headache management etc been forwarded. Basically she was told: We think you have Moyamoya, good bye.

We really don't know what to do to help her, she has two healthy children aged 5 and 2 but we don't think she is getting the right treatment.

In fairness, as I have mentioned, there probably isn't a doctor in NI who would know how to treat her.

Are there any posters here from NI, or even the UK who have had experience with adult Moyamoya and can recommend a doctor or surgeon that can help us?

Who can we speak to to get help?

Moyamoya has disabled my sister and the NHS has done little to help her, even when they have taken so long (30 years) to diagnose it. It was only this year that it was discovered that she needed glasses as well, and she was told she probably needed them since her childhood.

I have one last question, should her children be checked for moyamoya as well? As far as I know neither show any symptoms.

OMG, your sister’s story is absolutely heartbreaking, I’m so sorry. It upsets me so much when I hear someone not getting the help needed, when I know there is successful treatment readily available here in the USA. I don’t know of any MM experienced doctors in NI, but there have been a few members from the UK that were successfully treated in London. A few members have posted on the

“Surgeons with Bypass Experience”

forum of this website the following doctors with MM experience: Miss Joan Grieve consultant neurosurgeon National Hospital for Neurology and Neurosurgery, London UK, and another member posted, Dr Thompson in Great Ormond Street Hospital in London.

MM is definitely a treatable disease IF you could find MM experienced resources. All the health problems and symptoms you’ve described throughout her life are all MM related symptoms, it’s so sad that no one has helped her which allowed this disease progress. She could have been diagnosed and successfully treated if the doctors there were only familiar with this disease. As mentioned, MM is a progressive disease and only gets worse over time and with MM you are always at risk of a stroke if left untreated. Surgery is the only treatment for MMD, by introducing new blood flow to the brain by either "direct" or "indirect" bypasses. They “bypass” the blockage, but once a stroke or bleeding takes place, even with treatment, the patient may be left with permanent loss of function. Prompt treatment is vital.

My only suggestion would be to write; call, e-mail any and all neurological facilities or doctors that will listen until you find someone that has MM experience and can treat your sister ASAP. Time is not on your side with MMD, waiting allows for progression and further strokes.

As far as your question, should her children be checked for moyamoya as well? What we know so far is, the cause of MM is unknown, but because it tends to run in families, researchers think that MMD may be the result of inherited genetic abnormalities. So, if her children showed any symptoms at all as your sister did, yes I would suggest having them checked. Early detection is the key. MM can be diagnosed, but you’d need MM experienced medical professionals to detect and diagnose it properly. Even here in the USA, its often misdiagnosed and undiagnosed if they are not familiar with MM and don’t know what to look for. My niece didn’t have any symptoms at all before her 4 major strokes, other than an occasional headache. She was never diagnosed until it was too late and the strokes did permanent damage, but it’s different for everyone because of the many individual factors involved. Learning all you can about this disease will help you a great deal.

I certainly hope and pray your sister can find the help she needs. Please know you have a group of people here who understand and will help you in any way we can. Please keep us posted.

Keeping you all in my thoughts and prayers.

Mar

Hi Niaronsky,  I sorry to hear about your sister. I was diagnosed with mm in 2002 but also had two strokes before that. I had by-pass surgery in 2003 at the University of Iowa Hospitals. I have been stroke free since. The surgery does help. I know that I cannot do anything to change things but I live one day at a time and hope to find a cure.

Take care, Sharon

My sister has been sent back home with five different medicines to take for her headaches and has an appointment with her epilepsy doctor in a fortnight.

I am only a bystander in all of this, and it is very frustrating.