- G
- R
Dear Donors,
I’d like to tell you about my soon-to-be-three-year-old niece, Lilliana Isabel Arroyo. She lives in Staten Island with her parents. She was born November 29th 2012. Most babies cry once they are delivered but Lilliana, she was as quiet as a mouse. She weighed 6 pounds, 2 ounces, and was 18.50 inches long. A beautiful priceless baby girl, as normal as the other babies from the looks of her. I call her my “little super hero”. A resilient little fighter she is, despite the fact that she is suffering from an extremely rare congenital disease known as MMIH Syndrome or the Berdon Syndrome.
Not much is known about this disease other than the literature that is available on the internet and from the doctor’s prognosis. From the sources available, MMIH was said to have been discovered in the mid 70’s by Medical Doctor, Walter E. Berdon.
The excerpt below is what we know of the disease from our research on the internet, and from our discussions with the doctors who have treated Lilliana:-
Symptoms
The symptoms of MMIH result from its underlying smooth muscle disorder. The muscles of the internal organs are lax and do not develop properly in utero. Symptoms of MMIH are:
· megacystis - a giant bladder that is weak
· microcolon - a too-small large intestine
· intestinal hypoperistalsis - the small intestine is wide and its weak muscles don't pass food through very well
The abdominal muscles are flabby, making the baby's belly look wrinkled, like a prune. The hypoperistalsis leads to constipation and blockage of the intestines.
Diagnosis
MMIH is difficult to diagnose before the baby is born. Abnormal internal organs may be seen on fetal ultrasound, but it may not be clear that the child has MMIH, unless the child had a sibling with the disorder. Once the baby is born, physical examination and ultrasound can determine if MMIH exists.
Treatment
Unfortunately, there is no cure for MMIH, and the outlook is poor for infants born with it. Most die within the first year of life. Infants can be fed intravenously with special mixtures, but this type of therapy often causes liver failure. In the last decade physicians have attempted to replace all of the defective internal organs in infants with MMIH by transplantation. An article in the journal Transplantation in 1999 reported on 3 girls with MMIH who received multi-organ transplants. The transplants failed in one child, who died; one child died 17 months later from pneumonia, but the third child was alive and well at the time of the article.”
The first six months of Lilliana’s life was spent in hospitals, where doctors and nurses poked and probed at her several times a day. To date, she has overcome six surgeries, three were major. She has a needle close to her heart called a “Broviac” or Central Line. TPN – total parental nutrition drips into this needle. This is her feeding tube, this is what keeps her alive because she cannot eat normally like you and me.
She has a G-tube, medical term “gastrointestinal tube” which drains her stomach. For sensation purposes, she is given water and baby food in small doses. I have had the privilege of feeding her and yes, she can tell the difference between what bananas and peas taste like. Peas will give her a jolt and a disgusted look while bananas seem more favorable to her taste buds. Sadly though, within seconds these intakes of food would drain straight down into the G-tube because of her non-functional digestive system.
The J-tube, medical term “Jejunum” is connected to a part of her small intestine where special milk is fed to her through this tube. There is another hole underneath this J-tube which is a small part of her ileum stitched right above her skin. This ileum is the third part of her small intestine. This helps with digestion. She should be excreting out of this bag but because she has very little intestinal movement, the substance is milky and the amount small.
First Time I saw Her
The first time I laid my eyes on her, she was in an incubator under a heat lamp. A tiny little baby all bundled up in a warm blanket. She had a tube in her mouth which travelled down her throat into her stomach. A needle almost as big as her right wrist poked out of it, and her whole arm was taped up to prevent her from moving about. It looked like it would hurt a lot. And I was sure that it did. I saw needle holes on her left heel from being poked twice a day for blood samples, a monitoring device on her other foot to track her heart beat, several wires taped on her stomach. She looked like some kind of unfinished experiment. It was more than I could take, yet all I could do was stare at her intently. Stared and sobbed, sobbed and stared. And prayed. Prayed and hoped that GOD would hear my cries to save this child. I broke down and cried so hard I almost choked on my tears. I felt so helpless because I simply could not do anything for this baby.
It is devastating to know that there is no cure for MMIH. Not yet anyway. The reports and the statistics you read online are old news. This is such a rare disease and the survival rate is very low. It is more common in girls than in boys, but the survival rate is longer for girls than boys. Most will not last during the first year.
Walter E. Berdon is still alive today. He first discovered this disease in 1976 at the children’s hospital of NY in Manhattan. He found that parents of an individual with this disorder both carry one copy of the defective gene. Although he no longer practices medicine, he would go and visit MMIH patients. Lilliana, though she does not remember it, had a chance to meet him.
Her Parents and What they do
What do we do now? Her parents, God bless them! They have become her doctors, nurses, administrators, you name it. They know her inside and out. They administer her TPN, they carefully catheterize her several times a day, they clean her J and G tubes several times a day and these are just the medical part. The best part of all is that they give her love unconditionally.
Unfortunately though, the attention she needs takes them away from working full time. They live from paycheck to paycheck and struggle at times in making ends meet. We do what we can to help out. They also have a nurse that comes to help when they are both gone but I know they need more. They are not the type of people who like to ask for help because they do not want to bother or inconvenience anyone but I can see sometimes that they really need it. They live in a small two bedroom apartment.
The love that our family has for Lilliana is infinite. All those that are lucky to be around her experience the same vibrant love that Lilliana projects. She knows and feels this love around her and perhaps this is what gives her that strong will and makes her a fighter. We feel her strength. Her will to survive is so prevalent that she radiates this “I WILL SURVIVE and GROW OLD” attitude. She has flown twice from NY to CA, the first time was to surprise everyone for Christmas, and after that it was to celebrate her second birthday. She continues to grow. She got her first haircut at two and half years old. She has all her teeth even though she hates to brush them. She is walking, and running. Looking at her from the outside, you could not tell that there is something wrong with her. Until you see this diaper that is dangling from the side of her. She is alive and continues to do well. She recently got accepted to a school program.
Adversity, challenges, and obstacles can all be overcome with love, faith, time and effort. I look at this baby and I think “if she can do it so can I”. She is so amazingly strong, looking back from the time she was born, from feeling uncertain of her life to now, seeing her so lively, energetic and even naughty, it is just what you would expect from any child. There is hope and it lives within this child who is now going on three. We hope beyond hope, and we hope against hope, that with all the never-ending love and faith, and prayers, that one day her intestines, stomach and bladder will all just miraculously begin to function. Miracles happen every day, and maybe, someday soon we will see it in Lilliana herself. Amen!
We need your Help
Our goal is to let the world know of this disease. The cost is quite expensive travelling across the country so she can get 2nd or 3rd opinions/treatments from different doctors who specialize in a particular organ, intestine or condition. Her parents are in need of your assistance to help with daily costs for Lilliana and travel costs to receive the specialized care she needs. We know that with a little donation here and there, goes a long way. Anything you can do for her and her parents would be immensely appreciated. We would be able to get some exposure on MMIH. And that with such help, we hope that Lilliana would get a chance and more time to live her life as normal as any other child out there. Every child deserves a great childhood no matter how normal or less normal he or she is.
Will you please help us?
Thank YOU, and God Bless.
The Cacanindin and Arroyo families.
Joanne M. Cacanindin
I’d like to tell you about my soon-to-be-three-year-old niece, Lilliana Isabel Arroyo. She lives in Staten Island with her parents. She was born November 29th 2012. Most babies cry once they are delivered but Lilliana, she was as quiet as a mouse. She weighed 6 pounds, 2 ounces, and was 18.50 inches long. A beautiful priceless baby girl, as normal as the other babies from the looks of her. I call her my “little super hero”. A resilient little fighter she is, despite the fact that she is suffering from an extremely rare congenital disease known as MMIH Syndrome or the Berdon Syndrome.
Not much is known about this disease other than the literature that is available on the internet and from the doctor’s prognosis. From the sources available, MMIH was said to have been discovered in the mid 70’s by Medical Doctor, Walter E. Berdon.
The excerpt below is what we know of the disease from our research on the internet, and from our discussions with the doctors who have treated Lilliana:-
Symptoms
The symptoms of MMIH result from its underlying smooth muscle disorder. The muscles of the internal organs are lax and do not develop properly in utero. Symptoms of MMIH are:
· megacystis - a giant bladder that is weak
· microcolon - a too-small large intestine
· intestinal hypoperistalsis - the small intestine is wide and its weak muscles don't pass food through very well
The abdominal muscles are flabby, making the baby's belly look wrinkled, like a prune. The hypoperistalsis leads to constipation and blockage of the intestines.
Diagnosis
MMIH is difficult to diagnose before the baby is born. Abnormal internal organs may be seen on fetal ultrasound, but it may not be clear that the child has MMIH, unless the child had a sibling with the disorder. Once the baby is born, physical examination and ultrasound can determine if MMIH exists.
Treatment
Unfortunately, there is no cure for MMIH, and the outlook is poor for infants born with it. Most die within the first year of life. Infants can be fed intravenously with special mixtures, but this type of therapy often causes liver failure. In the last decade physicians have attempted to replace all of the defective internal organs in infants with MMIH by transplantation. An article in the journal Transplantation in 1999 reported on 3 girls with MMIH who received multi-organ transplants. The transplants failed in one child, who died; one child died 17 months later from pneumonia, but the third child was alive and well at the time of the article.”
The first six months of Lilliana’s life was spent in hospitals, where doctors and nurses poked and probed at her several times a day. To date, she has overcome six surgeries, three were major. She has a needle close to her heart called a “Broviac” or Central Line. TPN – total parental nutrition drips into this needle. This is her feeding tube, this is what keeps her alive because she cannot eat normally like you and me.
She has a G-tube, medical term “gastrointestinal tube” which drains her stomach. For sensation purposes, she is given water and baby food in small doses. I have had the privilege of feeding her and yes, she can tell the difference between what bananas and peas taste like. Peas will give her a jolt and a disgusted look while bananas seem more favorable to her taste buds. Sadly though, within seconds these intakes of food would drain straight down into the G-tube because of her non-functional digestive system.
The J-tube, medical term “Jejunum” is connected to a part of her small intestine where special milk is fed to her through this tube. There is another hole underneath this J-tube which is a small part of her ileum stitched right above her skin. This ileum is the third part of her small intestine. This helps with digestion. She should be excreting out of this bag but because she has very little intestinal movement, the substance is milky and the amount small.
First Time I saw Her
The first time I laid my eyes on her, she was in an incubator under a heat lamp. A tiny little baby all bundled up in a warm blanket. She had a tube in her mouth which travelled down her throat into her stomach. A needle almost as big as her right wrist poked out of it, and her whole arm was taped up to prevent her from moving about. It looked like it would hurt a lot. And I was sure that it did. I saw needle holes on her left heel from being poked twice a day for blood samples, a monitoring device on her other foot to track her heart beat, several wires taped on her stomach. She looked like some kind of unfinished experiment. It was more than I could take, yet all I could do was stare at her intently. Stared and sobbed, sobbed and stared. And prayed. Prayed and hoped that GOD would hear my cries to save this child. I broke down and cried so hard I almost choked on my tears. I felt so helpless because I simply could not do anything for this baby.
It is devastating to know that there is no cure for MMIH. Not yet anyway. The reports and the statistics you read online are old news. This is such a rare disease and the survival rate is very low. It is more common in girls than in boys, but the survival rate is longer for girls than boys. Most will not last during the first year.
Walter E. Berdon is still alive today. He first discovered this disease in 1976 at the children’s hospital of NY in Manhattan. He found that parents of an individual with this disorder both carry one copy of the defective gene. Although he no longer practices medicine, he would go and visit MMIH patients. Lilliana, though she does not remember it, had a chance to meet him.
Her Parents and What they do
What do we do now? Her parents, God bless them! They have become her doctors, nurses, administrators, you name it. They know her inside and out. They administer her TPN, they carefully catheterize her several times a day, they clean her J and G tubes several times a day and these are just the medical part. The best part of all is that they give her love unconditionally.
Unfortunately though, the attention she needs takes them away from working full time. They live from paycheck to paycheck and struggle at times in making ends meet. We do what we can to help out. They also have a nurse that comes to help when they are both gone but I know they need more. They are not the type of people who like to ask for help because they do not want to bother or inconvenience anyone but I can see sometimes that they really need it. They live in a small two bedroom apartment.
The love that our family has for Lilliana is infinite. All those that are lucky to be around her experience the same vibrant love that Lilliana projects. She knows and feels this love around her and perhaps this is what gives her that strong will and makes her a fighter. We feel her strength. Her will to survive is so prevalent that she radiates this “I WILL SURVIVE and GROW OLD” attitude. She has flown twice from NY to CA, the first time was to surprise everyone for Christmas, and after that it was to celebrate her second birthday. She continues to grow. She got her first haircut at two and half years old. She has all her teeth even though she hates to brush them. She is walking, and running. Looking at her from the outside, you could not tell that there is something wrong with her. Until you see this diaper that is dangling from the side of her. She is alive and continues to do well. She recently got accepted to a school program.
Adversity, challenges, and obstacles can all be overcome with love, faith, time and effort. I look at this baby and I think “if she can do it so can I”. She is so amazingly strong, looking back from the time she was born, from feeling uncertain of her life to now, seeing her so lively, energetic and even naughty, it is just what you would expect from any child. There is hope and it lives within this child who is now going on three. We hope beyond hope, and we hope against hope, that with all the never-ending love and faith, and prayers, that one day her intestines, stomach and bladder will all just miraculously begin to function. Miracles happen every day, and maybe, someday soon we will see it in Lilliana herself. Amen!
We need your Help
Our goal is to let the world know of this disease. The cost is quite expensive travelling across the country so she can get 2nd or 3rd opinions/treatments from different doctors who specialize in a particular organ, intestine or condition. Her parents are in need of your assistance to help with daily costs for Lilliana and travel costs to receive the specialized care she needs. We know that with a little donation here and there, goes a long way. Anything you can do for her and her parents would be immensely appreciated. We would be able to get some exposure on MMIH. And that with such help, we hope that Lilliana would get a chance and more time to live her life as normal as any other child out there. Every child deserves a great childhood no matter how normal or less normal he or she is.
Will you please help us?
Thank YOU, and God Bless.
The Cacanindin and Arroyo families.
Joanne M. Cacanindin