The journey began at Frankie's 15 month pediatric visit... Frankie's pediatrician, Dr. Karalyn Kinsella, noticed some "red flags" regarding Frankie's development.
Frankie was born on Wednesday, May 21, 2003 and spent 11 days in the NICU prior to discharge. He had fluid in his lungs and bad saturation levels. Who knew that was really, truly just the beginning.
Other flags... Frankie was operated on when he was just the tender age of 3 months for inguinal hernia/hydrocele. Then, after chronic ear infections, he had PE tubes placed. His broad and somewhat coarse facial features were another indication for Dr. Kinsella. His slow-to-talk development was the final flag she needed to push us to see a geneticist... a specific geneticist, Dr. Robert Greenstein.
After urine and blood tests, with everything coming back negative, Dr. Greenstein finally called the lab to verify everything had been tested. That's when we found out that MPS III Type A can only be diagnosed through a skin biopsy.
Frankie was diagnosed with MPS III Type A, Sanfilippo Syndrome, shortly thereafter.
On March 17, 2005, our son, Frankie was diagnosed with MPS III Type A. MPS III Type A, mucopolysaccharide III Type A or Sanfilippo Syndrome, is a genetic disorder. From the MPS Society web site, MPS III is described as follows:
"There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children with Sanfilippo syndrome are missing an enzyme which is essential in cutting up the used mucopolysaccharides called heparan sulfate. The incomplete broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. Babies may show little sign of the disorder, but as more and more cells become damaged, symptoms start to appear."
Our geneticist at UCONN explained it best to me by telling me that the lack of the enzyme prohibits a cell from operating properly. When a cell does not operate properly, the organ doesn't operate properly. When the organ doesn't operate properly, the body will not operate properly. Without treatment, Frankie would lose the ability to walk and talk. Life expectancy for a child suffering from Sanfilippo is 10-15 years of age.
The instance of MPS III (Sanfilippo Syndrome, all types combined) is roughly 1 in 70,000 births. Type A is the most common, but also the most severe of the MPS III types. Even though these disorders are rare, each patient needs such extensive medical care that the effect on the medical system is much larger than their numbers suggest.
"Disease occurs only when both genes from mother and father are not working right, or recessive. This means it is hidden until an individual inherits two genes for the same enzyme that are not working. Because the parents of the child with MPS III each have another gene that does work, there is a 3 out of 4 chance with each pregnancy that a repeat pregnancy will result in a child with at least one normal gene and no disease. There is also a 1 in 4 chance with every pregnancy that the child will inherit the defective gene from each parent and will be affected with the disorder. There is a 2 in 3 chance that unaffected brothers and sisters of MPS III individuals will be carriers. Carriers have one good gene and one defective gene. In general, the disorder is so rare that the likelihood of one carrier marrying another carrier is very low. "
From the Society of Children with Mucopolysaccharidosis and Diseases Relate web site http://www.mps.sart.pl/htm/en_text/index.php?dzial=mps_3_b#whatc)
"Sanfilippo syndrome affects children differently, and its progress will be faster in some than in others. Babies usually show no signs of the disorder, but symptoms start to appear from 2 to 6 years of age. Change will usually be very gradual and, therefore, easier to adjust to. The disorder tends to have three main stages, if untreated.
"The first stage, during the child's preschool years, may be a very frustrating one for the parents. They may begin to worry as their child starts to lag behind their friends' children in development, and they may feel they are being blamed for the child's overactive and difficult behavior. Diagnosis is often made very late, as some children do not look abnormal, and their symptoms are very nonspecific with little evidence to suggest a storage disorder. The doctor has to be perceptive enough to recognize that something is seriously wrong and ask for urine and blood tests to help reach a diagnosis. It is not unusual for families to have had one or more affected children before diagnosis is established.
"The second phase of the disorder is characterized by extreme activity, restlessness, and often very difficult behavior. Some children sleep very little at night. Many will get into everything. Sadly, language and understanding will gradually be lost, and parents may find it hard not being able to have a conversation with their child. Some children never become toilet trained, and those who do will eventually lose this ability.
"In the third phase of the disorder, children with Sanfilippo syndrome begin to slow down. They become more unsteady on their feet, tending to fall frequently as they walk or run. Eventually they lose the ability to walk. Life may be more peaceful in some ways, but parents will need help with the physically tiring task of caring for an immobile child or teenager with severe developmental delay."
From the Society of Children with Mucopolysaccharidosis and Diseases Relate web site http://www.mps.sart.pl/htm/en_text/index.php?dzial=mps_3_b#whatc)
Frankie was transplanted at Duke University Medical Center, June 30, 2005. At that point in time, Duke had performed nine umbilical stem cell transplants for MPS III Type A children.
Frankie received a 4 of 6 donor match and had surgery to have two cardiac catheters placed in his chest before chemotherapy began. Chemotherapy is done to stop the reproduction of his own bone marrow and allowed his body to accept the donor umbilical stem cell blood.
On transplant day, (generically called, "Day 0"), Frankie's immune system began its recovery. During this time, he was in the hospital, recovering. His tests have always come back as 100% donor, so the doctors deem that a successful transplant. That being said, Frankie should be able to continue develop physically. Unfortunately, there haven't been enough transplants to determine if the "good" blood cells can break the "blood brain barrier." This means that there's no proof that the transplant will help his mental development. There's no proof, but there's always hope.
