Marfan Trust From the Heart! In the concluding week of Marfan Awareness Month, Victoria spoke to Consultant Cardiac Surgeon, Professor John Pepper, and Consultant Cardiologist, Professor Graham Stuart, on the desperate need for greater public and professional awareness of Marfan syndrome. Please share this video –https://youtu.be/K4BZMuff5mA widely and wildly, and SPREAD THE WORD! (A HUGE thank you to the ever-creative Darren McDean for his stylish title design!). We want to expand our Marfan community and Find the Missing 15,000; please send this to anyone and everyone. https://youtu.be/K4BZMuff5mA
A couple approached Dr Child for advice on pre-implantation genetic diagnosis (PGD) in vitro fertilisation (IVF)
This lovely little vignette is the conclusion to our three-part series on Pregnancy which began before Christmas on 17 December with Raising a New Hope.
Happy in an intimate union of two, a married couple would feel happier still to become three. The primal urge to create a new life that gives life a new meaning. But what of this new life when an inherited disorder exists within one half of the couple, the severity of which could be life-impairing? The ‘one half’ in question is a woman with mild Marfan syndrome whose close relatives have variable severity. Reluctant to pass on the condition, the couple approached Dr Child for advice on pre-implantation genetic diagnosis (PGD) in vitro fertilisation (IVF). Some time later they wrote with the results ………..https://www.marfantrust.org/articles/139-dr-child-s-casebook-when-two-become-three
Our body’s fist-sized motor engine the heart, is where magic happens. Where life is circulated and sustained. But like any engine, the heart involves component parts that can go wrong and disrupt flow. In Marfan syndrome the Aortic Root and Mitral Valve are sometimes prone to life-threatening leakage, which can now be remedied by sophisticated surgery. And, after a long and successful operation one can feel the benefits of a healthy heart, perhaps for the first time. A patient experienced this new lease of life over Christmas when emerging from a 10-hour cardiac operation, only for infection to set in, prompting his worried parent to call upon Dr Child. https://marfantrust.org/…/dr-childs-casebook-the-engine…
What can one expect when one’s partner is expecting? A text-book pregnancy? A baby born safe and sound? In pregnancy the medical emphasis falls logically on the woman carrying the child. But what of the partner who is just as emotionally involved and worries he will not live long enough to see his baby grow and flourish. A young father-to-be with Marfan Syndrome wrote recently from overseas, fearful his potentially expanding aorta will tear and deprive him from being father to his child, and deprive his child of a father. Searches on the internet have not helped his state of mind. https://marfantrust.org/news/dr-childs-casebook-torn-hopes
Plagued by little cloud-like particles floating around his field of vision, a 65-year-old Marfan patient immediately sought medical advice. With retinal detachment ruled out, and based on an eye pressure of 36, glaucoma was quickly diagnosed. The patient left hospital with the standard effective treatment, beta-blocker eye drops, which seemed to create an unexpected side-effect – sudden sleepiness. His new need for a mid-morning nap prompted his call to the Marfan Trust Helpline. https://marfantrust.org/…/dr-childs-casebook-head-in…
Pregnant with her first baby, an Italian in London sought Dr Child’s advice on childbirth in Marfan syndrome. The niche yet global condition of Marfan entails a niche yet worldwide group of experts, and Dr Child’s reputation stretches across continents. https://marfantrust.org/…/dr-childs-casebook-raising-a…
A year that began on a note of fear ends on a theme of hope as COVID-19 vaccines are unveiled and administered (adverse reactions notwithstanding). Scientists have saved the world! Meantime, governments have carefully created a tiered system of priority recipients and it’s all stations go. Seemingly simple, the practical nature of prioritising is actually tricky, with nuances often overlooked. No nationwide system can be all-encompassing and things that fall by the wayside are unusual conditions such as Marfan syndrome, as one patient discussed with Dr Child. https://marfantrust.org/news/dr-childs-casebook-right-of-way
A new diagnosis in the family prompts a long reflection on the past. In her fifties and with her daughter recently declared hypermobile, a woman was propelled to our helpline after a soul-searching look at her own symptoms led her to question the possible diagnosis of Marfan syndrome. How should she proceed to rule this out, and find relief for her symptoms?https://marfantrust.org/…/dr-childs-casebook-%E2%80%93…
The MarfanTrust are halfway there with their Save-a-Life Campaign which has captured the imagination of so many generous supporters, surpassing their expectations, and raising a grand sum of £2,470 at time of writing. If you are able to, please support us by making a donation – https://bit.ly/39xLlHB
#MarfanTrust are halfway there! Our Save-a-Life Campaign has captured the imagination of so many generous supporters, surpassing our expectations, and raising a grand sum of £2,460.
Marfan Syndrome UK from the Marfan Forum 