Sunday, February 14, 2010

Have Heart

The last six weeks or so has been a very emotionally turbulent time for our family. Some of the fog is lifting now and I’ve decided to come to terms with this reality and even blog about it. I just joined the facebook group “National Marfan Foundation” so everyone will know soon. Through a series of medical visits and tests over several weeks Gabriella was clinically diagnosed with Marfan Syndrome on December 11th and then genetically confirmed on Christmas Eve. February is National Marfan awareness month and their annual Have Heart Campaign as well, so I thought the timing made even more sense to talk about this now. David and I are still adjusting to all of this, and Ella too of course so bear with me if this blog post is a bit rambling in nature.
For those of you that have no idea what Marfan Syndrome is please read some good excerpts I have selected for you from the National Marfan Foundation website here: and here and here and here and here

So now that you’ve educated yourselves a bit about Marfan Syndrome here is Gabriella’s current condition. She has all of the classic physical traits of Marfan including tall stature, long wingspan, long limbs and fingers. Her current skeletal involvement is flexible flat feet and pectus excavatum (sunken chest). Her chest is mildly sunken and we’re hoping that does not change. It can affect the heart and/or lungs, which are behind that cavity of the chest wall. No scoliosis right now which tends to be seen in a lot of the children with Marfan. Her current Ocular involvement is myopia and astigmatism. She was just at the Ophthalmologist and her lenses look right in place! Her lungs are normal as far as we know. We just must remain alert for pneumothorax (sudden lung collapse) or any type of breathing issues (asthma, emphysema, etc). Her current Heart and Blood Vessel issues are the most worrisome for us right now. She has dilation of the Aortic and Pulmonic Roots and Mitral Valve Prolapse. The Pulmonic dilation doesn’t seem to bother the Doctors as much since the Pulmonic valve is a low pressure one. The Aortic dilation is more problematic since it is a very high pressure valve where the blood leaves the heart and pumps out into your body. Though researchers are trying to figure it out, right now, there is no way to stop the dilation. We can only hope to achieve a slower dilation rate by having Ella take a beta-blocker, Atenolol, which she began within a few days of being diagnosed.

Besides being variably expressed from one person to the next, Marfan is very unpredictable. For us right now this means there is no way to know how her current body system involvement will change throughout her lifetime. And right now it gives us no way to estimate how quickly her aortic dilation will progress. We are hoping for a very slow growth that might take her as far as early adult years before surgical repair is needed. We’re also hoping that a current clinical trial will show that a different drug (Losartan) proves to be effective at stopping the aortic dilation, though feedback from the study Doctor is not promising and it seems as though it is only working on some people, not everyone. We want the miracle drug, of course. Maybe Losartan is it? We just don’t know yet. We are hoping to enroll Ella in the trial soon. Her “z-score” is 3.02 and anything 2.0 and below is normal. However her actual measurement in centimeters just missed getting in the trial. She will get an echocardiogram again soon and they felt confident she would qualify. We really want her in the trial, but we also don’t want her aorta to dilate rapidly. We are talking only 2/100ths of a centimeter that she missed it by though.

How is this affecting us? As parents, David and I spend a lot of time talking about medicine, medical appointments, medical bills, getting Ella to take her medicine, medical research, medical testing, etc. We’re trying to get used to the fact that our daughter has an imperfect heart and body and a geneticist and a cardiologist. As parents it’s so easy to assume your children are physically perfect and when you find out they are not it’s pretty tough to handle. It’s still a bit surreal though becoming more of a reality almost daily. We are so thankful that in our lifetime they have discovered so much more about Marfan Syndrome. When we were children life expectancy used to be half of what it is now—about age 35. It’s now almost normal with appropriate care: age 70. We have also been spending time trying to educate ourselves on the signs of Aortic Aneurysms and dissections since it is so important to seek immediate care for Ella if we see any signs. The NMF gave us a special notification card that we can take with us to the ER. One of the problems is that a lot of doctors are not familiar with Marfan Syndrome and they send people home who then die because they had an aortic dissection that was missed. So we get to educate the doctors! I’m sure that goes over really well when it happens…. Personally, I spend a lot of my free-time reading abstracts from medical journals and wishing I had paid closer attention to genetics in biology class. Though my professors would probably be impressed already by the knowledge I’ve acquired in such a short-time. One thing I’ve learned quickly is that nothing is impossible or absolute with Marfan. Even the experts will always qualify everything they say with “most of the time” or “in patients I’ve studied” or “I just don’t know yet.” You see (if you want a little genetics lesson continue reading if not feel free to skip over the next paragraph.)

In 1991 they discovered that Marfan comes from a mutation on the Fibrillin-1 gene (FBN1) (I have actually found a dispute about this though) but also has relativity with the Transforming Growth Beta Factor (TGBF) genes, both of these genes are found on the ever so puzzling Human Chromosome 15. Yes, THE human genome Chromosome 15. In spite of all the news we hear about it, geneticists still only know the equivalent of about a drop of water in the bucket (and this is from the geneticists mouth) when it comes to Chromosome 15. We also now have a lot of cancer researchers interested in helping with Marfan research because they know so much about the Transforming Growth Beta Factor gene. And I am completely ever thankful and devoted to those men and women that spend every day of their lives trying to figure out more about the connective tissue disorders and the Marfan genetic coding and mutations. Again, yes that was plural. There is not just one mutation. So far they have recorded I want to say between 300-500 mutations of the FBN1 gene without looking it up again. And here is the kicker: Not everyone with Marfan even has a mutation. Gabriella was clinically diagnosed and followed-up with the DNA Analysis testing at a Connective Tissue Specialty lab. She does have a mutation on the FBN1 gene which just further confirms their diagnosis of Marfan. So Marfan being an autosomal dominant disorder made us crazy compiling our family health history. Thank you to everyone involved! The geneticist seemed convinced that Marfan was running in my family through my Mother’s side. And quite frankly, so are we. However, David and I were tested through the quick (and much cheaper) test called linkage analysis. So they basically took Ella’s mutation and checked each of our blood samples for the exact same mutation she has. This is because it is most common for family members to have the same mutation. Well guess what, we don’t! Surprise! Nothing in genetics is thorough or definitive when it comes to the human genome C 15, FBN1 TGBF-1 and 2, etc. They just don’t know enough yet. But nobody is convinced that I do not possess some kind of related or unrelated Connective Tissue Disorder (CTD), or even Marfan. Through the NMF I was able to contact a Marfan expert who said it would be very rare for me to have another CTD and then pass Marfan onto Ella. So we are thinking maybe we are the uncommon ones and have more than one FBN1 mutation in our family, or maybe I just don’t show the mutation but others in the family will, or God forbid, maybe the lab screwed up or the test was inaccurate? (I’ve read stories about it and it does happen). The next step is to run the full DNA sequencing on me, and also my aunt who has already had a dissection will be going through genetic counseling and testing as well. Hopefully this will provide insight into our familial genetic line of Marfan or possibly something else. Bottom line is that neither the doctors, nor we think Ella is one of the spontaneous mutations. They actually most often arise when the father is of very advanced age upon conception. They know this because they have determined the spontaneous mutation happens on the X not the Y and have studied all of the documented spontaneous mutation cases. David had just turned 35 two days before Ella was born. Of course all of the spontaneous mutations are not in this category though. Now some of you might be thinking why do you care if she inherited it through your genes or a spontaneous mutation? Here is the biggest reason why… Nicholas.

Right now we have no idea whether or not Nicholas might have Marfan due to all the inconclusiveness in the paragraph above. They have not ordered any testing on him at all. Now we completely realize he doesn’t have any physical traits like Ella. The sweet boy is small! He can barely stay on the growth chart for height and weight! He does have mild pectus excavatum though. He has also had a heart murmur since birth though the pediatrician said it has been soft or not really heard at his last few well-visits. Sadly in the past few weeks as we have studied Marfan, we have become way too aware that you can have Marfan without having the physical traits. We are also aware that mitral valve prolapse can cause heart murmurs. We are also aware that Ella’s cardiologist calls her a “click” exam which means she can hear the click of the mitral valve prolapsing upon exam. The pediatrician never heard it. Another reason why we need to know where this all came from is myself of course, and my family at large which entails 9 children (my aunts and uncles and Mom), their children (my cousins) and all of their kids too (Ella’s cousins). They did order an echocardiogram on me since I had never had one. David had just had one done in September due to his family and personal heart health history (he does them regularly). His was fine. My aortic root was within normal measurements and I do not have mitral valve prolapse. They were unable to visualize my ascending aorta though. So now I’m a bit nervous about that since I know that most Marfan dissections take place on the ascending aorta.

Gabriella has been so strong and so messed up through all of this. She won’t really talk to us about it, but asks to read her Marfan A-Z book almost daily. What a great book that the NMF provides free to children diagnosed with Marfan! She gives echocardiograms, does blood draws, and measures all of her dolls and stuffed animals, and her brother or other people that come to our home. Clara, her American Girl Doll was taking her Atenolol the other day. Only hers was strawberry flavored. She had to take it for the same reason as Ella. She holds Twinkle Stars Gymnastics class in our house with Nicholas as her student almost daily. She of course gets to be Miss Jessica the teacher. Gymnastics is the one thing she had to stop doing immediately because of her physical activity restrictions. She just had her first visit with the child/adolescent psychiatrist and it went really well. During the time I was with them Ella spent most of the time playing with the dollhouse and not answering questions. While I was gone she played with the doctor kit and the two of them were helping the baby with Marfan. After spending time with Ella alone, doctor told me that her verbal speech, communication skills, and general interaction were of someone well beyond her actual years. All I thought was dear God, please tell me the IIT Psych student figured that out too! You see, she just survived Kindergarten placement testing (basically an IQ test administered by the IIT Psych Grad students). She told us it was “mostly easy and just a little bit hard at the end”. We’re hoping for spectacular results and to get one of our top choices of schools. We don’t find out until late March. So we’ll be seeing the psych doctor about 2 or 3 more times. She seems confident that Gabriella is dealing with all of this in normal ways and has already given us helpful ways we can deal with some of the issues. Of course Ella’s behavior at school continues to be perfect through all of this. On the home front it’s a bit different though. She’s definitely lashing out at us with anger because of her bottled up emotions. She is very disobedient and spends a lot of time in time out and losing privileges. We’re really hoping the psychiatrist can help us repair this too. I know a lot of people from our generation and even more so from our parent’s generation would never dream of sending their child to therapy and have huge (unfounded) issues with psychiatry. We, however are believers in getting help when needed and boy is it needed. We and Ella must learn to deal with this now since it is here to stay for her lifetime. As Ella gets older things will only become harder for her. She will deal more with teasing, questions (why can’t you do what we’re doing in gym class today?), feel left out when she can’t participate in a lot of physical activities her friends are (like the Jump Zone party coming up), and eventually be faced with heart surgery, the knowledge that more things can go wrong in many different parts of her body, and some day the issue of having children of her own. Genetically her odds are 50/50 to pass Marfan on to her children, and physically due to her aorta problems pregnancy will have to be evaluated when the time comes. Some people with Marfan and aortic problems can have fairly normal pregnancies though they must be closely and frequently monitored, others are advised never to become pregnant. It is truly a case by case basis and only time will tell. As a woman, I know this will be a very difficult topic for her to face in the future even as she becomes involved in serious relationships, telling people and facing whatever the reality will be for her. Right now, physically, her biggest challenge is tiredness and loss of appetite. She will often nap and falls asleep very easily (i.e. 10 min.+ in the car and she will be out). We will continue to have trouble finding shoes and clothes to fit as we always have so that is nothing new! She very rarely is interested in eating though and says she is just not hungry.

So this is more like an essay than a blog post. If any of you have read on through to the end I appreciate it, but it was good for me just to “talk” about it. I’m sure there are a million and one more things I could tell you but will close for now. I predict many future posts on this topic.

We are so blessed with great family and friends who are being a great support through all of this. We so appreciate the phone calls, e-mails and prayers. So everyone please “Have Heart” for Marfan, for Gabriella and our family and all of the others affected by Marfan Syndrome. If you are able please consider a donation to the National Marfan Foundation through my First giving page in honor of Gabriella and her diagnosis. Your donation will help fund research that is so important us, to Ella and to everyone with Marfan Syndrome: or use the widget in the sidebar.

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Blogger Karla said...

We will be praying! I We love you all so much. Tell Ella that we can't wait to play Pretty Princess with her again :) Please let us know if there is anything we can do. We will take time to send a card to Ella this week. Love you.

9:05 PM  
OpenID marfmom said...

Hi! I found your blog through Google Alerts under Marfan. My name is Maya and I'm 24 and have Marfan. I was diagnosed when I was a few years older than your daughter.

I'm sorry that your daughter was diagnosed, but I'm very glad you have found the NMF! I've worked with several non-profits through school and work and the NMF is unique in how well it brings together the families whom it serves. We're basically family.

Have you come across NMF Connect yet? It's a social networking site: If you do check it out, I recommend looking up Jennifer Agauyo on there. She's in Chicago too and has twin sons a little younger than your daughter, one of whom seems to have Marfan. They're kind of an odd diagnostic case themselves. You'll also want to check out the group for parents of children with Marfan. :-)

Finally, if you're able, I'd really recommend coming to conference. Each year the NMF hosts an AMAZING conference over a long weekend. I could talk about it forever, but basically this year's is in Houston, TX July 8-11. The 8-9 is a free clinic staffed by the country's best Marfan doctors of various specialties. Late in the day on the 9th conf. itself kicks off and there are workshops and research updates taught by the best docs. There's a kid's program as well, and one for teens. It's a life changing experience. Conf. is also coming to Chicago in 2012.

I'd be happy to chat with you further about anything too. I think you'll find "Marfs" from all over ready to support your family in this journey.

1:54 AM  
Blogger NMF News Blog said...

Hi Heather,

I see that Maya (volunteer extraordinaire, and leader of our teen group at the NMF conference) already found you. Ditto to everything she said. I also want to remind you, in case you haven't found them yet, that you have one of our most active chapters in your area. The Northern Illinois Chapter has raised the bar on creating a connected active community. Here's their contact info, as shared on the NMF website: Northern Illinois Chapter Bruce Klein 630/415-0044

Take care, and let us know if there is anything else we can do.

- Jonathan
Director of Education
National Marfan Foundation

9:07 AM  
Blogger Bradford L. Stevens said...

I just finished reading your post and wanted you to know that the Lord has something in mind for you and your family. No telling what it is; but, I have no doubt you will discover it in your journey. Please know that you all are in our prayers. God bless,

9:01 PM  
Blogger Marion said...

I agree with Brad. This is a very hard trial but Ella has tremendous love and support. Along with that God has gifted her with with intelligence AND compassion and I believe this hardship will propell her to do great things. We love you all and support you.

10:39 AM  
Blogger Mr. Westcott said...

After reading your blog and the comments that have followed, I am brought to tears by the way the Lord works in our lives. Much love and support from the Westcott Family. ~Chris

9:54 PM  

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