Remember that incident I had last Sunday where I ended up in the ER for 5 hours? Well, the pain has happened again twice since then, the most recent being yesterday just before my end-of-2nd-trimester echocardiogram. As per the other two times, the pain hit me hard and fast. I had to stop every few feet to try to breathe and my eyes welled up with tears.

You might think that if you’re ever going to get sick, the hospital would be the place to do it. Not always. I managed to get out a few words to the receptionist about what was going on and how I needed my abdomen checked right away, and she totally argued with me and sent me into the hall to wait the 20 minutes until my exact appointment time. When I finally did get my echo, the tech was unable to find my descending aorta (not a surprise, given I’m almost 7 months pregnant).

I decided I should mention the pain recurrence to the Marfan clinic’s head nurse, since the cardiologist is still out of town. She looked through my echo reports and told me I probably wasn’t having a dissection but that I should call my OB right away and that she would send over information to my cardiologist. She’s great like that

I left a message for the high-risk clinic nurse and took Menininho home (we’d been at the hospital all day, between his audiologist appointment and my echo). Within an hour, this had happened:
- The OB nurse called me, got information, and paged my OB
- The OB paged my cardiologist
- Cardiologist paged the head of radiology
- OB nurse told me to come to labor and delivery
- The Marfan clinic coordinator called to tell me I’d probably be getting an MRI at the main hospital first (since any ultrasound/echo is bound to be inconclusive at this stage in pregnancy)
- Radiology did some shifting around with their schedule
- I dropped off the Menininho at my friend Stacey’s place, who was kind enough to watch him for me, then drove to Mark’s office so he could accompany me to the hospital
- The clinic coordinator confirmed I’d be getting an MRI and that she’d be waiting for me in her office to personally escort me to the test.

Basically, several departments came together to make sure I got the tests I needed in the way that would be safest for the baby. It would have been easy for them to 1) send me to the ER, where I would have had to get a CT, thereby exposing Smudge to lots of radiation, or 2) just ignore my pain, especially seeing as my cardiologist is out of state right now. I was moved to the head of the line so the personnel needed to be SURE my aorta was fine would be present. In fact, some of these people should have been home for the evening by the time I made it to the hospital, but they stayed with Mark & me the entire time. What could have been a really, really scary situation was made a lot less so thanks to them.

Even the MRI was set up to be easy. Because I’m claustrophobic, the doctors only ran one test at a time, pulled me out of the machine, read the scans, then decided if another test was necessary. Yes, the process took a little longer but I was grateful someone had had that idea because it made me feel a whole lot better since I obviously couldn’t pop a couple xanax.

When Mark and I were summoned into the back room after the tests were completed and offered seats, we feared the worst. We both had assumed I’d get a “You’re good to go. Go change your clothes and head to labor & delivery” and that’d be the end of the that. Turns out that everyone just really, really loves MRI baby pictures! “If you have to go through an MRI while pregnant, you might as well be allowed to enjoy all the awesome pictures,” the radiologist said. He then went through picture by picture and showed us not only my anatomy (first time I’ve seen my hernia!), but Smudge’s as well. It was incredibly neat! I wish I had copies of the pictures to show everyone.

By that point it was nearing 8:00 and the team at labor & delivery was awaiting us. We thanked everyone profusely and headed over there for some more monitoring. Luckily we only had to stay about an hour because the MRI had ruled out any problems with the placenta.

Final verdict: “You’re an, um, complicated patient. And babies do weird things to your insides. So…uh…let’s just hope this never happens again!”

And I am definitely fine with that diagnosis. Having ruled out anything that will kill me or Smudge I am content to just suck up the pain from now till his birth day. All I ask of him is that he doesn’t pull any other stunts: the swelling, contractions, and now this mystery pain have been MORE than generous of him.

I’ve also never been more grateful and impressed with my hospital and medical team than I was tonight. It is clear to me that this is a clinic that cares deeply about their patients as people and Mark and I are so appreciative of that. What could have been a really scary evening was made much less so because of the time and attention these medical professionals put into everything.

I’ve come across a book that I think all parents of kids with special needs should check out. Although The Parent’s Guide to Speech and Language Problems would appear to be relevant only to the particular population named in the title, I found it to contain some universal chapters. I would particularly recommend portions of this book to all the parents of children and teens with Marfan and related disorders, especially the newly diagnosed.

Chapters 10, School Daze: Navigating Your Way Through the Individualized Education Program, and 11, Are You Covered? Cutting Through the Red Tape of Insurance, are particularly amazing. I think because the author, Debbie Feit, is a parent of two kids with special needs, she knows better than any expert how to explain “the system.” Chapter 10 goes through the evaluation process step-by-step, then details the IFSP (for kids under 3) and IEP (for kids 3 and over). Feit provides examples of IEP forms, goals, and potential problems, as well as how to address those. Reading this before starting the IFSP process for the Menininho was so helpful; I had a good idea of what to expect and what my rights were, as well as what kinds of questions to ask and what services to seek.

Chapter 11 is a potentially even more vital read. Raise your hand if you’ve been denied by insurance for some aspect of your child’s care. I KNOW a lot of Marfan families have been in this position. Some of the specific examples in this chapter aren’t relevant, but the general information is. Feit, as usual, starts with the basics of what questions to ask to get general information on coverage. She then walks you through the steps of submitting a claim and how to appeal if it’s denied, including how to file an external appeal (how many of you knew about this option?). She even includes an example of a letter to send for the appeal; you can use the basic outline and tweak it to suit your child’s condition and needs.

The rest of the book is specific to the needs of children with speech and language problems (autism included). I breathed a huge sigh of relief when I came across not only the “normal development” chart, but the “when to seek help” chart. Menininho didn’t have many of the skills listed for normal development, but met just about every criteria under when to seek help. My concerns were validated! I knew Mark & I weren’t crazy!

Feit and her co-author, physician Heidi Feldman, do a great job of laying out the book in a very logical format. The formatting makes it easy to skim too, so that you can find the information you’re looking for. For example, they provide information on the most common communication disorders in one section, suggested therapies for each one in another, so that you can easily find what’s relevant to your child’s symptoms/diagnosis. I’d say the book is biased towards discussing verbal apraxia over other disorders, but that’s what Feit’s children have so it makes sense that’s what she would choose to write examples about. Snippets from other parents are included in boxes throughout the book.

Two other areas I personally found useful were the sections that broke down the benefits and drawbacks to various methods of therapies (including alternative therapies), as well as how to know if your child’s therapist is a good fit. While there were a couple of things that have annoyed me a bit about Menininho’s therapist (just little personality quirks), I’ve been able to go back to Feit’s list and see The Man is actually a great find. He gets along with M, and M. likes him in return. I’m a participant in every session, I get weekly verbal and written feedback as well as assignments of things to work on with M. on our own in between sessions. And most importantly, M. is making progress.

When the audiologist confirmed that Menininho had some kind of communication problem, I checked out several general books from the library to help us form our “battle plan.” Nothing I read was as useful as The Parent’s Guide to Speech and Language Problems and I can’t recommend it enough.

Buy it: if your child has a communication delay or disorder, particularly if you’re at the start of the diagnostic process. It’s currently selling for under $10 on Amazon.

Borrow it: if you child has any other kind of delay/disability (or if you do, for that matter!)

I was not compensated in any way for this review. I’ve never spoken with either author. I just really liked the book and wanted to let all of my friends know about it!

This is part 3, the final portion, of my series on the new diagnostic criteria for Marfan syndrome. Here you can access the portions on the rationale for the revised criteria and the actual new criteria. Today’s post is on the criteria for related disorders. The National Marfan Foundation has put together information on the new criteria. And as a reminder: I am not a doctor, I’m just trying to translate the scientific jargon into an easier to understand format. Any specific questions you have about the new criteria can be directed to Amy Kaplan, RN, at the NMF: akaplan@marfan.org or your doctor.

While I think we can all agree that not enough doctors know about Marfan syndrome and even fewer understand it well, but the fact is that even fewer still know about related disorders. And so, there are many times when doctors observe a few symptoms of Marfan and diagnose it without considering alternative diagnoses, some of which are very new to the field (like Loeys-Dietz syndrome, discovered in 2005). If you recognize any of these symptoms in yourself, talk to your doctor about it. And do not ever take the line “it can’t be _____, that’s too rare” as a reason to not get evaluated. Rare as something may be, people still have it or the diagnosis wouldn’t exist.

Terminology is explained in the 2nd article.

MASS: The patient needs a z-score below 2, no ectopia lentis (dislocated lenses), a systemic score of at least 5 and a skeletal feature. If FBN1 testing has been done and is positive then the patient’s aorta should still be monitored (every 2-3 years if they are an adult). Researchers don’t know how often MASS patients develop into Marfan patients.

Mitral Valve Prolapse syndrome: The patient must have a systemic score of LESS than 5, no aortic enlargement, and no ectopia lentis. Positive symptoms can include pectus excavatum, scoliosis, scoliosis, and mild arachnodactyly (long fingers).

Loeys-Dietz syndrome: The mutation for LDS can be found on TGFB1 or TGFB2. Symptoms that differ from Marfan and are an important part of diagnosis include: hypertelorism (widely spaced eyes), cleft palate, split uvula, arterial tortuosity (twisted arteries), and aortic aneurysm/dissection. Other symptoms that appear, also not associated with Marfan, are: craniosynostosis, chiari malformation, clubfoot, congenital heart disease, cervical spine instability, easy bruising, dystrophic scarring, and skin you can easily see through. An accurate diagnosis of LDS is very important because unlike Marfan, people with LDS can develop aneurysm anywhere in their arteries (Marfan causes aneurysms in the aorta) and they dissect much earlier than do people with Marfan. Uterine rupture has also been observed. But, just like many connective tissue disorders, LDS is still highly variable. Not everyone will have the pronounced facial features, for example. Those who have a TGFB mutation but don’t meet the clinical criteria may get the diagnosis of LDS2 so that they still receive earlier aortic care.

Bicuspid Aortic Valve: Besides having a BAV, some patients may have a chest deformity or scoliosis. A few have an aneurysm in the ascending aorta or other heart disease. BAV does not cause ectopia lentis or systemic score features outside of the two listed above. Some mutations have been shown in NOTCH1 and KCNJ2.

Familial Thoracic Aortic Aneurysm and Dissection syndrome: If I understand correctly this isn’t one disorder but the name for a few disorders that are similar in that they cause thoracic aneurysms. A lot of research still needs to be done to identify more outward features. Mutations have been identified in FBN1, TGFB1, TGFB2, MYH11, and ACTA2. ACTA2 (which my former nurse practitioner helped discover! I’m so proud!) mutations make up 16% of FTAADS patients and can cause: iris flocculi (a kind of eye tumor?), livedo reticularis (mottled veins), brain aneurysms (causing strokes or Moyamoya disease), BVA, PDA, or premature coronary artery disease.

Ehlers-Danlos syndrome, vascular type: Patients with v-eDS can have easy bruising, skin you can easily see through, dystrophic scarring, and intestinal or uterine rupture. It causes rupture of arteries but not necessarily the aorta. Patients with v-EDS need a more complete monitoring then; half of aneurysms occur in the thoracic abdominal area but they can also occur in the head, neck, and limbs. Genetic testing has identified mutations in COL3A1.

Ehlers-Danlos syndrome, kyphoscoliotic type: Patients have kyphoscoliosis, loose joints, muscle hypotonia (low muscle tone), and a risk for aortic dissection/dissection of medium-sized arteries. k-EDS is recessive and the mutation is in PLOD1.

Ehlers-Danlos syndrome, cardiac valvular subtype: This kind of combines the severe cardiac issues of v-EDS with the symptoms of classical-EDS (which weren’t addressed in this paper). The mutation of cvs-EDS is found in COL1A2 (a “complete deficiency” of it).

Arterial Tortuosity syndrome: Patients with ATS have very twisted arteries, aortic stenosis (the aortic valve doesn’t open fully), an aneurysms in the aorta and medium sized arteries. There are other skeletal and skin features as well (the paper does not go into more detail on these). ATS is rare and recessive. Some patients die in infancy but others live into adulthood. The mutation is in SLC2A10.

Ectopia Lentis syndrome: This has already been described in Thursday’s post to an extent. Because aortic aneurysms sometimes occur in ELS patients later on (such as can happen with MASS), a person can not be formally diagnosed with ELS until they are 20 years old. Dominant forms of ELS are caused by FBN1 mutations and recessive forms are caused by mutations in LTBP2 and ASAMTSL4. If the ELS patient has an FBN1 mutation they should receive aortic monitoring for the entire lives.

Weill-Marchesani syndrome: Patients with WMS have lens dislocation but also microspherophakia (“small, rounded and thickened crystalline lens”) and “a shallow anterior eye chamber.” They are also short in stature with stiff joints and brachydactyly (short fingers and toes). So, their physical features are the opposite of Marfan in several key ways. WMS can be dominant or recessive and mutations are in FBN1 or ASAMTS10.

Homocystinuria: Patients have mental retardation and thrombosis (blood clots) as well as lenses that dislocate in a downward fashion.

Stickler syndrome: Many of the skeletal features of Marfan overlap with Stickler, except that Stickler patients can also have cleft palate, hearing loss, and epiphsial changes to the bone (I don’t understand what this means, sorry). Eye characteristics that can overlap with Marfan are retinal detachment, myopia (nearsightedness), and early glaucoma. Stickler patients to not usually have lens detachment.

Shprintzen-Goldberg syndrome: Symptoms include: pectus (chest) deformities, scoliosis, arachnodactyly (long fingers), facial/cranial issues (widely spaced eyes, high arch palate, low set ears, jaw problems, etc.), and developmental delay (most SGS patients have developmental delay). Vascular disease is uncommon.

Congenital Constractural Arachnodactyly: This is also referred to as Beals syndrome. Patients have many outward Marfan features. Distinctive features of CCA/Beals include crumbled ears, contractures of knees/ankles at birth, camptodactyly (fingers that can’t completely straighten, particularly in the pinky finger). Kyphosis or scoliosis can also be found. CCA/Beals does not carry a risk for aortic dissection. It’s caused by mutations in FBN2.

I was surprised that Classical Ehlers-Danlos and Hypermobile Ehlers-Danlos were not included in the paper. Although neither carry aortic complications, their skeletal features and flexibility do overlap with Marfan syndrome.

Naturally, I couldn’t cover everything from the paper in my write-ups; there’s just too much information (like a section on management guidelines for MFS patients). I may do posts on those sections at a later time. If you’d like the full text of the article I can email you a copy; my contact information is at the top of the page.

I’d also like to add that it’s vital that we as patients help spread the word about these changes. I suggest bringing a copy of the NMF website or the paper itself to your doctors at your next appointment, particularly if you have concerns about your diagnosis status.

And again: The opinions offered at Musings of a Marfan Mom are for informational purposes only and are not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding Marfan syndrome and any medical condition. Never disregard professional medical advice or delay in seeking care because of something you have read here.

Citation:
Loeys, Bart L., Dietz, Harry C., Braverman, Alan C., Callewaert, Bert L., Backer, Julie De, Devereux, Richard B., et. al. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics, 47:485-495.