Musings of a Marfan Mom

Meet the Family

Hi! Thanks for coming by our blog! You can find out more about us below.

Maya: I’m a 30 year old outspoken Latina mother of two, and I have Marfan syndrome. I have a Masters in Public Health, with my interests being patient advocacy (especially patients with chronic illness) and maternal and child health (particularly birth issues and breastfeeding). When I’m not chasing my boys or volunteering with the Marfan Foundation, I love writing, watching medical dramas on TV, and playing Mastermind with my husband (I always win!).

Mark: My husband is my rock. He supports me in everything I try. We met in college, where we were both in the marching and pep bands. Mark is an electrical engineer with passions for music, nature, and gaming. He makes a mean grilled cheese sandwich and always loses to me in Mastermind (bwhahaha).

The Menininho: This isn’t my son’s real name; Menininho means “little guy” in Portuguese. He’s the quiet one in our family. M. loves drawing, books, minecraft, and My Little Ponies.

Baby J: Baby J (well, just J now!) is 5.  He loves super heroes, Power Rangers, Star Wars, and following his big brother everywhere. He’s in preschool and a total social butterfly like me. J also has Marfan syndrome.

Miss R: Miss R is the newest addition to our family! She’s itty bitty with a huge personality! Right now she loves crawling and eating anything that she can fit in her mouth.

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59 Comments

  1. Mark – Maya & boys. What a lovely website. I enjoyed the pics. Wow – the boys are darling. Can’t wait to soon see them in person.

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  2. I’m glad I found your blog. I have one question. You said your youngest has Marfan Syndrom. How did they test for that? My son was diagnosed at 13, he is now almost 20. At that time I also found out that my Mitro Valve Prolapse meant I was the carrier. Even now when we take him to a new doctor they deny he has is even though he has been tested and diagnosed.

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    marfmom Reply:

    We did genetic testing. I had the test done on myself first, and they were able to find my mutation. When each of my sons was born, we had them tested for my mutation. M came up negative and J’s test was positive.

    I am confused by the doctor saying that your Mitral Valve Prolapse meant you were the carrier for Marfan. MVP is found in the general population….it’s very common in non-Marfs and is often totally harmless and most people don’t know they have it. If that’s your only symptom of Marfan, that’s not enough for a diagnosis. There also are not carriers of Marfan; a person can have Marfan syndrome and pass it on, like how I have it and passed it on to my 2nd son, but a person can not carry the gene and not have Marfan; it’s a dominant disorder.

    Have you contacted the NMF before? They have a list of Marfan clinics and maybe there is one near you that your son could go to, so you wouldn’t have to go through the drill with a new doctor each time.

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  3. Hey Maya!

    Thank you so much for having this site. I am 28 years old, Latina and was diagnosed with Marfan’s at the age of 5. I have been on beta-blockers since then. I am the only people affected in my family. I am 6’1 and have alway been very proud of my height. I have some vision problems, but nothing too outstanding compared to my fellow glasses wearing friends. I am pretty much asymptomatic with the exception of a dialate aorta (4.3).

    I, like those who dream of winning the lotto, dream of being a mother, but the dialation in my aorta is very concerning to my doctors. I was wondering if you have problems with your aorta and if so how was pregnancy for you?

    I have always been afraid of researching my condition, because its often associated with a fatality, but I want to be informed and I want to mingle with other people with the same condition.

    I hope to hear for you soon.

    -jen

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  4. I came over and checked this out from ylmb. this is a wonderful introduction to your beautiful family

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  5. Hey, this is kind of neat. I have Mafans, as well as Aspergers! 😛
    Your kids are adorable :)

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    marfmom Reply:

    Thanks! :-)

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  6. Hi Maya !
    My name is Gayle, and I phoned in about my son when you were on Doctor Radio. Awesome website, stay upbeat and just as strong as you are, it’s how we all do our best!

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    marfmom Reply:

    Thanks!

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  7. I am so glad I stumbled across your page! I have so many questions I’d love to ask you! My husband was diagnosed with Marfans 2 years ago along with his uncle, brother and father. We have an almost 4 yr old daughter and every time I’ve asked the doctors what they think about her having Marfans I’m told we have to wait till she older to get a diagnosis…. That’s there’s no genetic test… But there is?! How can I find out more about this? Thanks so much!

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    marfmom Reply:

    Ok I am going to email you and we’ll chat :-)

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  8. Thank you!

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  9. Hi Maya, I have Loeys Dietz syndrome. Your insight and strength on the Marfan List is appreciated. Keep doing what you’re doing!

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  10. i wish i knew about this page before, my son thomas who is 5 now has marfan we found out when he was 2. he is the only one in the family. i love him to bit but finding it hard as he has behaviour problems and feel that i’m not getting the support. can marfan affect the behaviour too. x

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    marfmom Reply:

    Marfan does not cause behavioral problems in and of itself, but sometimes vision problems or pain can translate into behavior problems. Also, some kids with Marfan seem to have sensory processing problems, and that could appear to be behavioral problems. If you’d like to chat more about it, just send me an email! :-) marfmom @ gmail.com.

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  11. Hi Maya,

    First off, you have a beautiful family! I have a question about passing on the Marfan gene. My husbands mother and brother have Marfans, could my husband be a carrier? My husband does not have any symptoms, so he was never tested. Im just curious, we are expecting our 3rd child this week and wondered what our odds might be. Thank you for your time.

    Nancy

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    marfmom Reply:

    Hi Nancy,
    Marfan is what is caused by what is called an autosomal dominant mutation. This means that it’s a single mutation and if you have the mutation, you have the disorder to some extent (Marfan can vary widely within a family). The affected person has a 50% chance of passing on the mutation to each child. Without the mutation, the disorder isn’t present and can not be passed on. So assuming that your husband does not have Marfan, then none of your children are at risk for getting it (or at least, not at any bigger risk than the general population who have no parent with Marfan syndrome).

    That said, in my opinion (and I’m not a doctor) it wouldn’t hurt to have your husband at least get an echocardiogram. Since his mother has Marfan, he could still be affected mildly. If your mother-in-law or your brother-in-law have had positive genetic testing, your husband could be tested for their mutation as well, just to be doubly sure.

    Good luck, and congrats on your new baby! :-)

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  12. Hi Maya! I came across your site looking up Micheal Phelps, anyways, I have a soon to be 15 yr old son that has Marfans, diagnosed at age 3. He has a twin brother that does not have Marfans. Their father has it, his mother had it, her father had it, prior to that I don’t know. My son is taking a beta blocker and MSM tablets. What is MSM? It is a natural form of organic sulfur found in all living organisms (Methylsulfonaylmethane). It is awesome at strengthening connective tissues! I recommend looking into it. It’s found at health food stores. My son is the first in the family to not have dislocated lenses by age 5 or MVP by age 11. I give all glory to God.
    Also, anyone with Marfans or with a family member with it, you have to be your own advocate with regards to your health. My son’s father had aortic dissection in 1997 at the age of 29. When they heard it was Marfans and testing confirmed the dissection, we were told he was dying. My point is, that we had to be his advocate and literally fight for his life. He was transferred and after 13 hours of surgery, he was alive. Again, to God be the glory. Do not ever let anyone tell you there isn’t anything that can be done.
    It’s better to get things checked out and dealt with immediately.
    Anyways, I hope I didn’t cross any emotional lines. :) So glad I came across your site, keep up the good work. People need someone that can relate and is willing to hear them and help them. You’re that person. Lovely family as well.
    Thanks.

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  13. Just wanted to stop by and say I found your site randomly and then realized that I graduated HS with your husband. You have a beautiful family! The time you dedicate to your site and your knowledge really shines through. Happy and healthy futures to you all :)

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    marfmom Reply:

    Oh how cool! I will have to let him know! And thank you :-)

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  14. Hi Maaya,

    I am a 30 year old marfan mom of a 6 yea old marfan kid. I got to know about the marf only 5 years back when my mother had a sudden heart arrest and had to undergo an open heart surgery for the valve replacement. I had severe myopia with subluxated lenses and a dilated valve which was undetected during my childhood. My mother seems to be the carrier of it. I have undergone three eye surgery for the lenses and a couple of lazers for my retina. Even my son was detected with subluxated lenses and a dilated aorta 4.5. he has undergone a pciol vitr. 3 years back. He takes beta blocker regularly. His eye sight is much better but still has a very high power.
    I have been a constant follower of your posts for a long time. Today i finally wanted to connect with you. I go through a lot of emotional ups and downs frequently. And I always wished I had somebody who could understand the situation and with whom I could share seek advice. Your posts exhibits a lot of strength which is of paramount help to many. Thanks.

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  15. Thank you for all this information on your website! You have a beautiful family.

    My husband side of family has Marfan. Our oldest son does not but our youngest has the traits. Doctors tell us at 2 years of age, its too early to diagnose him as having Marfan. Lately, I’ve been concerned about his speech delay and all the websites about Marfan don’t mention this until I came across your website and its very encouraging.

    Again, thank you for this website. God bless you & your family.

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    marfmom Reply:

    Thank you! I’m glad it has been helpful to you! Please know that via genetic testing – if that is an option for your family – that 2 is not too young to diagnose. My son was diagnosed at birth thanks to genetic testing. Without testing, regular monitoring is recommended, including echocardiograms and eye exams.

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  16. Hello. I stumbled across your site and I thought perhaps you would be able to help diffuse or inspire me. I have a 2 and 1/2 year old who has a mitral valve defect. He also didn’t gain weight between 3 months and one year, but never dropped off the charts for height. My brother in-law has marfans (blood relation to my son) I was sent to a geneticist who looked at my husband and said he should see a cardiologist and they would do the genetic test if had any signs of heart problems. I am watching the shape of his chest develop and it is making me anxious. So many tests were done when he was not gaining weight that showed nothing that the dr.s are scared to pursue anything and keep telling me he is ok. Mostly he is ok accept for how much he eats, and he has really severe allergies. I cant decide if I should nag the dr.s more or let it go and see if anything else develops.

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    marfmom Reply:

    I’m going to send you an email!

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  17. Hi Maya, I was reading about parenting and it somehow brought me to your blog. You have adorable kids! :) I am a mother of a 2 1/2 year old son who doesn’t talk, yet. He is still confuse on what words to use to convey his feelings, but he understands whenever I talk to him. I am just wondering if he is in such pain as what you have mention that marfans has,and that maybe he can’t just process it properly to tell me what’s wrong….Is it possible for my son to have marfans even if I do not have it, nor his dad? Thanks

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    marfmom Reply:

    The short answer is yes, 25% of people with Marfan are the first in their family to have it. The other 75% inherit it from a parent. But does your son show signs of Marfan? Or are you thinking it could be Marfan because of the speech delay? What you are describing speech wise could be caused by many things. Marfan can cause some speech delays because of the low tone, but Marfan is not a speech and langue disorder, and is not tied to any speech disorders, if that makes sense.

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  18. Maya,
    I’ve been reading your website for quite some time now. I might have Marfan, and my doctor (geneticist) sent my blood for genetic testing in January 2012. I live in France, where the mean waiting time for results is 2 to 3 years (only one laboratory in the entire country runs the analyses), and I’m getting impatient to know my results. The health system usually performs very well (I’m not French but from another European country and have lived in the US, so I can compare) and is really good at getting the most vulnerable and everyone who needs it treated, but this is something I have a hard time wrapping my head around. How long does the test take in the US?

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    marfmom Reply:

    Wow! That is one of the longest wait times I’ve heard! In the US it generally takes 5 weeks for initial testing, and then 2 weeks for subsequent family members to be tested, since then the lab is only looking for one specific mutation or deletion. I’ve heard it taking up to 3 months here though, depending on the lab, but generally it’s just a few weeks. Did your doctor order all the testing for you, or just the main FBN1 test? (There is a 2nd tier FBN1 test to look for deletions, plus 4 tests for Loeys-Dietz syndrome that doctors sometimes also run at the same time). Are you able to at least get treatment while you wait?

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  19. Hi Maya!

    My husband has Marfans and we recently had a daughter who was genetically tested for it. We were told she does not have it. Is she still a carrier? We haven’t been able to find much about this or are her future children safe from Marfans?

    Thank you kindly!

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    marfmom Reply:

    She is NOT a carrier. If she did not inherit your husband’s mutation, she has nothing to pass on to her future children so they will not have an increased risk of Marfan. :-)

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  20. Thanks for your answer, Maya. I’m still waiting, of course, but I can get treatment and go to the cardiologist and ophtalmologist for yearly checkups, and I see a physical therapist, and so on. It’s really just the genetic testing which takes forever, apparently not only for Marfan’s but also for the “breast cancer gene”, and probably others.

    I’m sending you and your family all my best wishes!

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  21. I was looking at some of the other posts. I wanted to share that my husband was diagnosed as an early teen but just recently got diagnosed with muscular dystrophy as well. This is considered rare to have Marfan’s and dystrophy together. Have you heard of this?

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    marfmom Reply:

    No, I don’t know anyone else with both. I don’t think they are related. I do know other people with Marfan who got another rare illnesses though. Like, I know a couple with celiac, one or two with Type 1 diabetes, but that doesn’t help much.

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  22. Hi, I came across your blog… I am from new zealand. I grew up with doctors thinking I had marfans, but recently had some genetic tests done over a year ago and just recently found out that I have beals syndrome, which is similar to marfans… I just wanted to say what an awesome blog! Your children are beautiful! I am a mum of 3 – always told I probably wouldn’t have children! Very blessed! Thank you for your blog! :-)

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    marfmom Reply:

    Thank you! It’s nice to meet you! I have a friend whose child has Beals. Are you part of the NZ Marfan and related disorders group? They have a Facebook page. I’m friends with several who are a part of it, so if you haven’t come across it shoot me an email.

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  23. Hello, I am a very worried mom and I just need someone to talk to. Yesterday we were told our 5 year old may have Marfans. We are waiting for some tests to come back and are going in for an eye test and echo next week. I’m so sad and scared, and just need someone to help me through this. It does not run in my family or my husband’s that we know about, at least not diagnosed in at least 3 generations. My daughter is tall, skinny and has hyper extended elbows. Her arm span in longer than her height, no other symptoms are apparent at this point. Her fingers and toes seem normal. Eye sight has been 20/20. I guess I just need a friend who knows what I am going through. Can anyone help?
    Thanks,
    Crystal

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    marfmom Reply:

    Sent you an email!

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  24. My husband has always felt like he has marfans because his wing span is longer than his height (which is only 5’11”). In addition, he dislocates his knees often as well as being double jointed and having poor eyesight as a child (corrected with surgery). I don’t think he has enough markers to warrent concern and his doctor never took his fear seriously, but the situation is muddled by the fact that we have two children who are tall and thin with double joints. If for some chance that he has a mild form of marfans I would be concerned for the kids. However, I myself, am 6 feet tall and come from a very tall stock on my fathers side (with no other markers for marfans.)I guess my question is at which point is being tall and thin with loose joints just that and at what point should a genetic test be instituted upon? Sorry for the novel but thanks for the blog:)!

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    marfmom Reply:

    I think that given all the symptoms, and your husband’s concern, that at least an echo for him would be a good idea! I’m not a doctor, but my thought is that any time there is a concern, no matter how small, it’s better to be safe than sorry. A geneticist can look at all the pieces and help you make a decision about genetic testing. If you’re in the US, The Marfan Foundation has a list of clinics that have specialists to help diagnose Marfan and related disorders. You can download the clinic list here: http://www.marfan.org/resources/patients/find-doctor.

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  25. Hi! I’m a 16 year old, and I was learning about marfan in school and realized that I had a few symptoms. I’ve been referred to as “rails” for having long arms and legs and being slim. My toes and fingers are long as well. My lower jaw is small and my teeth crowded on my lower jaw. I’m also nearsighted. And, about 2-3 months ago my height was really bothering me and my legs were 36″ and my upper body was 27″. I didn’t measure my arms though, but they hang about 3″ above my knee caps. And, I was checked for scholiosis when I was younger and I didn’t have it even though my doctor thought my spine was weird. And, my eye doctor thought I was going to have a lazy eye when I was 3-4, but I don’t. And, I don’t know if this is a symptom but I read it affects the skin, I don’t know if that’s true or not. But, my legs and sometimes my arms, but mostly my legs looks like a spider web. My limbs will change a different color (sorry I’ve been wearing pants lately so I haven’t noticed it in awhile so I don’t remember the color) but, there’ll be a redish spider web pattern. Should I go to the doctor? I always thought I was weird for having such long arms and legs. My family tends to call me “legs” and it bugs me because I feel like a freak because how long my limbs are. But, please give me your concern, I’d really appreciate it, thank you!

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    marfmom Reply:

    I’m not a doctor so I can’t give medical advice, but I think anyone who is concerned about the possibility of Marfan (or a related disorder!) should have a thorough examination. Better to be safe than sorry! Here is more information on how that process works: http://www.marfan.org/expectations/diagnosis. You (or your parents) can also contact The Marfan Foundation for advice and resources: 1-800-8-MARFAN or support@marfan.org.

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  26. slucajno sam naisla na ovu stranicu,ja imam sina od 2 godine koji ima sumnju na marfans sada idemo kod genetičara,javljam se iz croatie tu se jako malo može naci o ovoj bolesti i ne znam koliko je medicina dostupna tu kod nas očajna sam

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    marfmom Reply:

    Ok, ja sam koristeći Google Prevodilac ovdje pa vas molim da oprostite bilo zabune. Jeste li u Bosni? Ne znam za koga drugog tamo s Marfan, ali možete probati Marfan sindrom grupi na Facebooku, što je vrlo velika. Mogli biste također pokušati http://nmfconnect.marfan.org. Mogao bi email sestra je Marfan Fondacije, Amy, previše, a ona mogla pokušati odgovoriti na pitanja za vas. Njen email je akaplan@marfan.org. Da li to pomoći na sve?

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    marijana Reply:

    hay. I’m not from Bosnia, Croatia’s neighboring country, I’ve found a great guy from Slovenia on facebook, and others.Your experience with Marfan inlet hope. Thank you for your response and I use a translator, so excuse the mistakes. In our family no one suffered from Marfan’s son was the first I was very afraid for his heart and life

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    marfmom Reply:

    Sorry! I was using Google Translator and it said Bosnia. Whoops! Yes, I know the guy you are talking about and he’s great! :-)

  27. Hi, I’m so happy to find this site. My husband has Marfans and he recently had a dissection this past January. I just had a baby girl a few weeks ago and we had her tested and she also has marfans. My first daughter was through PGD and so she is clear, but that wasn’t an option for this past pregnancy. I am looking for resources and support to make sure we are very proactive in taking care of our newest edition. We have found a really great team of doctors here in NC where we just moved 2 yrs ago and we are really thankful for that. Thanks for posting so much information about your experiences, I will be busy reading!

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    marfmom Reply:

    Glad you have a great team! I do have a couple NC friends with a related disorder – Loeys-Dietz syndrome – if you’d want to connect!

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  28. Yes I would love to – I will take any kind of support / info possible. We just moved here 2 yrs ago and so we don’t have any family here (which was very difficult when my husband was hospitalized in jan). I considered moving back home (to CT) to be close to family again but we decided the medical team we have found here is more important for us and we want to stay here. We didn’t have that back home.

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  29. Hi, I’m so happy I found this. I think my fiance may have Marfan’s Syndrome. His dad was very tall and passed away suddenly from heart problems. His mom has extremely flexible joints and scoliosis. Her heart is having some problems, too. She has two sons, one, my fiance, who I think has it, and another who does not. He seems to have a lot of the signs such as flexible joints, lots of knee problems and tendon problems, he’s 6’4 (but not skinny or lanky), and is beginning to have back problems. What kind of genetic testing did you have done? I’m worried for him and also when we begin to have children. Thank you!

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