Wednesday, May 18, 2011

Baby/Child Loss is not a Taboo subject,so stop treating it as such

A dear friend of mine had gone to Hallmark to find a card for a family member who had lost their baby unexpectedly and she was horrified,disgusted and furious. There was practically no cards that adressed the loss of a baby. There was several that addressed the loss of a pet. When she she told me about this, I got angry. I know pets are important parts of people's lives,but to still see baby/child loss as a taboo subject is insane.

My friend inquired as to the whereabouts of the baby/child loss cards and the people who worked there,looked at her like she had three heads.That is unacceptable to her and to me. Child/baby loss is not an easy subject but it's a subject that must be talked about because it's a reality for so many families. Families already feel like an outcast when they lose a child/baby and to have the subject be taboo,just makes it worse for these families.

 The loss of a child is something that so many parents have to experience and for the friends of those people,they feel lost. They try to get a card to send the family,but there are very few options.

There needs to be the same ammount of beautiful cards for child/baby loss as there are for new babies.

May is Barth Syndrome Awareness Month!

I've gotten to know several boys with this condition and I am so lucky to call their moms my friends.I wanted to do a special blog post in their honor. Since May is Barth Syndrome Awareness Month,I decided to do it this month. I decided to profile one of the boys to give those who aren't familiar with this condition,a face and a name.

Christopher is a sweet, outgoing, funny and adorable little boy who suffers from Barth syndrome.
You would not know he had BTHS just by looking at him, as he and the other boys compensate So well to have such a multitude of issues.
You would not know the endless appointments, specialists and therapies he must go through on a regular basis. You would not know that he must have injections several times a week to make his white blood cells produce sufficiently and be able to fight infections. He must take antibiotics everyday forever.
You would not know he takes 8 oral medicines a day, some of them to help his heart function properly.
He does have more difficulty in eating and because of this, Pediasure is there to help him get enough nutrition. A true Barth’s boy, he does love his butter, salt and eggs.
He has a lot of energy when you first observe him, but if you know him well, you know he does get tired more easily than others his age. Because of this, he sleeps longer than most at night.
We let Christopher guide us and he though he was slower at walking, talking and doing other normal physical things, he is very smart. Here is the story of Christopher:
Christopher Pena was born in April 2008 with non-compacted cardiomyopathy. Non-compacted cardiomyopathy is a very rare condition in which the heart muscle remains sponge-like after birth, which causes the heart to be very weak. Christopher's cardiomyopathy affects his right and left ventricles where it is very hard for his heart to pump and function correctly. They said the only fix was a heart transplant. At that time, we opted against.

Christopher was not given very long to live. Six months at most When he was 45 days old, he was admitted into hospice care where he remained for 15 months. Christopher was released from hospice when an echo cardiogram showed that his heart function had tripled! And at 18 months, his heart function was almost normal.

In February 2010, it was discovered that Barth Syndrome is the cause of Christopher's cardiomyopathy.
Barth syndrome is a rare, sex-linked genetic disorder of lipid metabolism that affects males. Typically, boys with Barth syndrome present with hypotonia (low muscle tone) and dilated cardiomyopathy (labored breathing, poor appetite, and/or slow weight gain) at or within the first few months after birth. Other important features of Barth syndrome include bacterial infections because of neutropenia (a reduction in the number of white blood cells called neutrophils), muscle weakness, fatigue, and short stature. Although most children with Barth syndrome manifest all of these characteristics, some have only one or two of these abnormalities and, as a result, often are given incorrect diagnoses. It is very rare, so much that if people would hold hands from one end of the world, all of the way around, only one of those people would be a boy with Barth syndrome.
There is no specific treatment for Barth syndrome, but each of the individual problems can be successfully controlled
Here is the website for the Barth Syndrome Foundation and their Month of May campaign to raise awareness for this rare genetic disease.
For those of you who are unfamiliar with this diease,here are some answers to qyuestions you may have.
 *What is Barth syndrome?
-Barth syndrome is a rare but serious, x-linked genetic disorder of lipid metabolism primarily affecting males around the world

*What are the signs and symptoms of Barth syndrome?

-The cardinal characteristics of this multi-system disorder consist of the following in varying degrees:

~Cardiomyopathy (dilated or hypertrophic) - A weak heart muscle usually associated with enlargement of the heart.
 ~Neutropenia (chronic, cyclic, or intermittent) - A reduction in “neutrophils”, a type of white blood cell that is most important for fighting bacterial infections.
~Muscle hypoplasia and weakness/Exercise intolerance - All muscles, including the heart, have a cellular deficiency which limits their ability to produce energy. Muscle weakness and increased exertional fatigue are characteristic findings in Barth syndrome.
~Growth Delay (often mistaken to be failure to thrive)-During childhood most affected individuals are below-average in height and weight.
~3 Methylglutaconic aciduria - An increase in an organic acid that can be measured in urine that result in abnormal mitochondria function (the “powerhouses” or primary energy producers in cells).
~Cardiolipin deficiency - A failure of Barth syndrome mitochondria to make adequate amounts of tetralinoleoyl-cardiolipin, an essential lipid (fat-like molecule) for normal mitochondrial structure and energy.
*What gene is affected?*

~Barth syndrome is caused by mutations in the tafazzin gene (TAZ, also called G4.5) on the X chromosome. Because males have only one X chromosome, they will have signs of Barth syndrome if that
X chromosome carries a mutated tafazzin gene.
*Who does Barth syndrome affect?*

~Barth syndrome primarily affects males.

~Females are primarily only carriers of the mutated gene that causes Barth syndrome. Females who carry an X chromosome with a tafazzin mutation are unaffected because they have a second X-chromosomes with a normal tafazzin gene that is dominant to the recessive tafazzin gene. Although it is theoretically possible for a female who carries a mutation in the Barth gene to have clinical signs of the disorder, there has been no proven affected female with a normal 46, XX female karyotype to date.

How does someone get Barth syndrome?

~Barth syndrome is an x-linked recessive genetic condition, meaning that it can be transferred from mother to son. A mother who is a carrier of Barth syndrome usually shows no signs or symptoms of the disorder herself. There is a 50% chance that a boy born to a female carrier will have Barth syndrome, while girls born to a carrier have a 50% chance of being carriers themselves. All daughters of a male with Barth syndrome will be carriers, though none of his sons will be affected. There are several known non-carrier mothers, and for this reason we believe mothers should be tested.
*How is Barth syndrome diagnosed?*
The diagnosis of Barth syndrome should be considered for any child or adult found to have any one of its four cardinal clinical characteristics, and evaluation for the other diagnostic criteria should be undertaken by obtaining the following studies:
~Quantitative urine organic acid analysis, including quantification of 3-methylglutaconic acid

~Cardiolipin analysis of muscle, platelets or cultured cells

~Complete blood count and differential


~DNA sequence analysis (genetic testing) of the tafazzin gene (TAZ, also called G4.5) which falls on the long q arm of the X chromosome; Xq28.
~Please see the “Diagnosis of Barth syndrome” webpage for further information on diagnosing Barth syndrome as presented by Dr. Richard Kelly MD, Ph.D.
~For more details about these tests and a listing of approved labs, please refer to
 *Why is an early diagnosis critical?*
o Early and accurate diagnosis is key to survival for affected individuals. Historically, boys died of heart failure or infection by three years of age, but today, with improved diagnosis, treatment, and management, the survival rate and future of these boys is much brighter.

~Congestive heart failure

~Risk of serious arrhythmia, including sudden death

~Serious bacterial infections

~Gross motor and/or fine motor delay

~Growth delay

~Exercise intolerance, lack of stamina

~Frequent diarrhea

~Recurrent aphthous ulcers

~Hypoglycemia, including fasting hypoglycemia in the newborn period


~Chronic headache and body aches, especially during puberty

~Extreme fatigue

~Feeding problems

~Mild learning disabilities
 *Incidence and Prevalence*
~To date, there are no good studies of the population or birth incidence of Barth syndrome; however probably fewer than 10 new Barth infants are identified each year in the United States, which suggests an incidence of only 1 in every 300,000 – 400,000 births. Currently there are fewer than 500 individuals within our registry from around the world.

~Barth syndrome occurs in many different ethnic groups and does not appear to be more common or have originated in any one group.

~Dr. Peter Barth of The Netherlands published the first comprehensive description of Barth syndrome in 1981 and again in 1983.

~Dr. Richard Kelley at the Kennedy Krieger Institute at John Hopkins published a further study on Barth syndrome in 1991.

~In 1996, the specific genetic location of the Barth gene on the X-chromosome was identified. (Bione, et al 1996

~There is no specific cure for Barth syndrome at this time, but the BSF is funding research for interested scientists and physicians in hopes to further their understanding of the metabolic and biochemical abnormalities seen in this disease.

~There are no specific treatments for Barth syndrome. Not all patients exhibit all of the symptoms at any one time, therefore heart symptoms, infections, and nutrition problems are treated as they arise. Careful attention and monitoring for symptoms is advised.
All of this information is used only for awareness purposes.It is not intended to be used as medical advice.

*How do you treat Barth syndrome?*

*Is there a cure for Barth syndrome?*

*When was the Barth gene identified?*

*When was Barth syndrome first described?*

*Ethnic Incidence*

*Are there other possible clinical*

*What are the major clinical problems?*

*Can females get Barth syndrome? *

Advice from Heart Parents to new Heart Parents

Start therapy now. ;)

Don't sweat the small stuff :)

My advice comes and goes but I would suggest asking many questions, searching for every piece of information on your childs heart

doctors don't have the last say in the outcome!

to filter out the bad stories.. focus on the positives, take notes (don't be afraid to ask tons of questions even if you think you already asked them) and get all the facts that you can grab. Get support. And lastly, trust your gut..

To make a note of a memory everyday. Live and love with all your heart and don't be afraid to ask for help.

To never feel alone, you are not the only parents starting out in the CHD world.

All of the above!! ALL OF IT!!!

I agree a lot with dawn. Every case is different just go day by day and don’t try to compare your child with another, it will drive you nuts! believe me.

That you have been given a gift because you are strong enough to handle it.......that gift is the realization of how precious every single minute of every single day really, truly is!!

I know its overwhelming, but you are stronger than you realize.

You are not alone and enjoy every moment and take pictures even with tubes and wires etc.

To never give up hope and reach out to those around you for help. You are alot stronger then you ever realized you could be and that strength will come through when you least expect it to and you think you can't go on. Find other in your community with CHD's to talk to as no one knows better what your going through then another CHD family.

BREATHE!!! Sleep when you can and remember that there is NEVER a stupid question asked. It is ok to cry, no one will think any less of you. You have a family with this community.

First, Do NOT look up anything online. You have no idea how old that info is!!!
Never stop Believing, and take care of yourself,
Cry when you need to cry, scream when you need to scream and laugh when you need to laugh...Its ok to be angry and find a doctor you trust, hold on tight and lean on your support system

I agree with all but also write everything down also its over before you know it and your child is just another child. Don't worry about the future.

Never give up hope, try and stay positive, live each moment like it is your last, and always remember you know what is best for your child. The doctors, therapists and you all work together as a TEAM! You could not do it with out them and that can not do it without you!

What is the hardest part about being a heart parent? (Part 2)

Even 9.5yrs into this and watching my girl live like the rest of her friends it is sitting here waiting for the other shoe to drop, without not really waiting. Make sense?

There are 2 things that are really hard for me. First one is not knowing his future, knowing that the oldest HLHSer is really not all that old, knowing that we could lose him at anytime. Second is knowing there is nothing I can do to take his pain away or to make him better, I can only be there to comfort him.

The constant fear that Jace might die. I have horrific nightmares on a regular basis. It's constant anxiety for me bc of it. He is my everything and my purpose for living. The thought of losing him is gut wrenching

Not knowing what to expect. And not being able to take her place whenever she is in pain or has to go thru something rough
Besides the obvious of not knowing what will happen and how long he will be with me. The hardest part is watching him go through the pain, stress, and anxiety and not being able to make it stop for him.

The unknown!

Watching your child grow up and not knowing how long you have them.

Worrying if anything will happen when he's at school and I not make it in time, his impending surgeries.. going thru the wait and signing papers with complications that may or may not happen..I hate the signing part..I do want to thank God that he's almost 11 on the 25th!!

knowing when it's time to say goodbye and trying to live after saying goodbye

Fear of the future, the unknown.

all of the above...

For me it seems to be harder when he is doing well because you start taking it for granted that he is doing well. This really hit me when he was fine at 9 am on April 20th and by 3 pm he had had 3 strokes. When the look sick or act sick its ...easy to make the most you have with them cause you know you could lose them anytime. But when they are doing good its easy to forget they are sick and you think well I at least have a while left losing him isn't an immediate threat when it is always an immediate threat

After dealing with this for almost 22 never gets easier...every hospitalization, every illness, everything just weighs on you. Just enjoy every moment they're here.

Wondering what else can happen...the "WHAT IF" or "WHAT NEXT"

Saying goodbye.

Knowing that you can't do anything to help.

Not being able to take it for them.....watching them in pain.....seeing a cry but not hearing anything.....watching a monitor fearing the next minute....not having any control over the situation......It is a long hard road and when it is bad it is awful but I will walk with him every step of the way because the good helps to ease the fear of those bad days!!!!

The unknown but knowing the possiblilities...

Not knowing what the futures holds...and knowing that even though my Olivia looks perfectly fine on the outside...but she's working ten times harder than all of us healthly folks on the inside.

And watching my husband be so afraid to get close or even feel the baby move cause he didn't want it to be too hard if our little guy didn't make it.

There are a lot for me...Not knowing what the future holds for him, worrying every night at bedtime or everyday at nap time...Watching him go through so much with the iv's, labs, x-rays, etc,etc,etc...It's extremely hard right now for me knowing he just had surgery 2 months ago & he isn't progressing as well as they hoped right now...

Thinking I might lose another baby, and being helpless to help him even though I would have given my life for him to never feel an ounce of pain.

The uncertainess... The fear of him not having a tomorrow. Having to smile and be happy sometimes when my heart is breaking. There are many happy moments too, however with an instant everything changes!

In a nutshell, being a heart parent. Never expected to be one but if wishes were horses, it'd be me with the uncertain future & trials, not my wholly innocent baby. Just one of those burdens you can't truly care for those you love, proof you can't be a supermom & protect them from everything. It is terribly humbling. And I don't do humble well. ;)

What is the hardest thing about being a heart parent? (Part 1)

I don't have the answers to that because I have never seen it from that side. So I had to ask the heart parents I know and here are their answers.

Going to bed every night wondering if your child is going to wake up the next morning. Other than that... hmmmm it's all gravy! ... Remember laughter is the best medicine.

The hardest part for me right now that Bianca is doing good is seeing other heart babies and heart parents and other heart adults, breaks my heart when my CHD family is hurting.

Never knowing what's around the corner
Worrying about her future and how her health is gonna be when she gets older.
I agree with both of them.
I often check Legend to make sure he's breathing. Also everytime i see a baby doing bad or pass and see as of right now legends doing good it makes me feel a little guilty. I feel like if i put a post about him im bragging. But the main thing is not knowing. He still has 2 more surgerys and the ones coming up in a few months and you never know afterwards just hope all goes smoothly

The uncertainty, for sure.....not knowing what the future holds.

To be honest with you.... The hardest thing for me is treating Lilli like a normal little girl. Letting her climb and fall, letting her run and play.

The constant fear and anxiety - that pretty much means everything! Sorry, probably not the answer you were looking for ;)

I worry sooo much about Binaca's future and what God has planned for her and her lil heart! I agree with everyone! And if I haven't said it, we are so glad and blessed to have a great supportive CHD family!