02/04/07

Our second child- Seth is 7 yrs old. Seth has a rare genetic disorder called MPS II or Hunters syndrome. Click on the MPS society web page for more information on MPS II.

  Seth was born on April 3, 1999 he was 8lbs 5oz and 21 inches long. His health has always been a challenge for him and us. At birth Seth was admitted to Children's Mercy Hospital in the NICU. He was there for 4 weeks with a diagnosis of RDS, bilateral clavicle fractures, Left Brachial plexus injury- all happened during delivery because his heart stopped and he got stuck in the canal. I remember after he was there a week the doctor's told us "he's doing good and may be able to go home in a few days, I was ecstatic. 4 am the next morning the doctors called us and said Seth developed Pulmonary Hypertension (high pressure in his lungs only) and asked us to make a very difficult decision...."do you want us to do ECHMO, or try this experimental treatment called Nitric oxide?" after explaining to us that ECHMO is where they drain all his blood into a machine that will oxygenate it and put it back in his body and that it works very well on babies that are small and under just a few pounds but couldn't give us good odds that it would work from him because he was 8lbs 5oz. They explained that Nitric oxide would go straight in to his life support tube and would try to equal out the pressure all through his body and that it was still in the testing phase and not approved yet but so far has worked well on the bigger babies, better than ECHMO. We chose Nitric Oxide. after being intubated for 9 days and a couple of days to stabilize We finally got to hold him for the first time, I cried. After a week and half of healing in the NICU they finally said "you can take him home" with O2 and an apnea monitor. We were home for 4 days and were back at CMH when we found out that Seth was aspirating everything that went in his mouth because he had no gag reflex, lack of awareness, and uncoordinated peristalsis. After a week or so and the fluid had drained out of his lungs they placed a G-Tube (feeding tube), did a Fundoplycation (tightening of the sphincter muscle at the top of his stomach) which left him with the inability to throw up, and put him on reflux medication. He was in the PICU for a week following those surgeries. The feeding tube was replaced with a Mickey button when he was 1 1/2. When he was  almost 3 we were able to take out the Mickey button........YEAH!!!! For almost 4 years we suspected something was wrong with his body because of unexplained things like temperature regulation issues, seizures, chronic diarrhea, multiple respiratory infections (even with feeding tube), Life threatening sleep apnea, and other symptoms. We saw doctor after doctor and specialist after specialist with test after test and no answers. When I was pregnant with Kent my OB sent us to see a genetic counselor to ask about Seth's issues and see if there was something we should test for with Kent. To our surprise, the genetic counselor took one look at Seth and said "his features are familiar to me but I can't place what the disorder is called, you need to see Genetics at Children's Mercy" we were in to see the geneticist 7 days later where he took one look at Seth and said "He looks like an MPS child- either Hunter's or Hurler's. We got a urine test to check for Mucopolysacarides and 2 weeks later got a positive test result. We did a lot of research on MPS and the only word I can use to describe it is devastating, no matter which one he ended up having. We then did blood tests to determine which MPS disorder Seth has, and in February of 2003 we got the Hunter's diagnosis. We were floored. I remember getting that call, Corey was at work......I immediately got on the internet to the MPS society website and looked up Hunter's again. I just keep thinking to myself "no, he can't have this" and when I saw the expected life span of a severe MPS II child I just started crying and called Corey right away and told him to come home now. We had a good cry together and realized that, within  only a few minutes, our life had done a total 360 and would never be the same again. As Seth has grown he is showing us that he does not fit a mild or a severe Hunter's child and he has more of a moderate-severe case of Hunter's. When Seth lost his vision from Hydrocephalus on April 1, 2004 he got a shunt placed and so far is doing well. The vision loss has been a hard adjustment but it seems more for us than him. It has been a long year of MRI's, CT's, Bone scan's, blood tests, heart ECHOs, and ultrasounds. Seth's issues now are hearing and vision loss, Coxa Vera, degeneration of his left hip joint, speech delay, uncoordinated swallow with mixed consistencies (cereal & milk, spaghetti O's, etc), he has a hard time walking long distances, he wears a BiPAP at night because of sleep apnea, and has a little developmental delay of about a year. Seth is a very adaptable child, as are most MPS children. He is only 5 but I look up to him for his courage and strength. He is very creative and loves to play video games even though he has to sit 2 inches from the screen.