Why Wasn't Zachary Developing? | Mystery Diagnosis | Season 4 Episode 1

[00:00:01]She said she wanted to die. She would have been better off dying.

[00:00:04]>> And he said to us, "What took you so long to get here?" And I looked at Robert like, "What does he know that we don't?" Oh god, that was just horrible.

[00:00:13]Seeing her sick again. He wasn't able to do the same things that other children did.

[00:00:20]>> As a parent, you're you have absolutely no control over the situation. And it it's frightening.

[00:00:26]Just do whatever you have to do to figure out what is wrong with me.

[00:00:32]>> Next, two medical mysteries that defied the experts. At first, Zachary Townsley appears to be the perfect baby. But as he grows from infant to toddler, his parents are terrified to see him struck by one bizarre ailment after another.

[00:00:47]And no doctor is able to tell them why.

[00:00:50]It's a very sinking feeling knowing that there's something wrong with your child.

[00:00:57]>> Then, 22-year-old Danielle Mesinati is happily caught up in a whirlwind of school, family, and work. When suddenly, everything comes to a screeching halt.

[00:01:07]After endless ER visits and no answers, she begins to worry that she might not make it.

[00:01:13]>> I really didn't think anyone would ever figure out what was wrong with me.

[00:01:17]When illness strikes, we look to doctors to give us answers. But what if they can't? For these unlucky patients, diagnosis is a mystery.

[00:01:39]In the fall of 1999, Florida natives Janine and Robert Townsley are thrilled to learn that Janine is pregnant with their second child. Already parents to one-year-old Joshua, the couple can't wait for their family's newest member to arrive.

[00:01:54]>> First pregnancy went normally. There were no real conditions, no real problems. Josh was always very healthy, happy, great baby. And that's why we decided, well, okay, we'll have another one.

[00:02:06]>> After having Joshua, I totally fell in love with him.

[00:02:09]And I said to my husband, I want a million of these.

[00:02:12]>> Like many would-be parents, Janine and Robert had been tested for genetic disorders before they decided to have children. Janine's uh grandmother had a son that had died at a young age from a genetic condition. So, we decided it would be a good idea to have genetic testing just to make sure.

[00:02:30]>> We go to the doctor. You know, there's no reason to suspect any concern because Josh is fine. I have this happy, healthy little bundle of love. The results were that Janine wasn't a carrier of the problem that I had with my son. And so we didn't expect any problems with uh this child.

[00:02:49]>> On May 31st, 2000. Janine gives birth to a baby boy that she and Robert named Zachary.

[00:02:56]>> Zach was born on my birthday and he was a couple days earlier, so he's really a special birthday present for me. At first, Zachary, like Joshua, seems perfectly healthy.

[00:03:08]>> I thought he was long and skinny the first time I saw him, but you know, other than that, you know, he seemed like a perfect baby.

[00:03:15]>> The young family happily heads home and settles into life with a new baby.

[00:03:20]But over the coming months, the Townsley's notice that Zach is developing more slowly than his older brother Joshua did at the same age.

[00:03:29]Physically, Zach looked pretty much like any other baby, except for the fact that his head was a little bit larger than most babies. It was probably in the 95th percentile for babies. He was a little bit behind in his um developmental milestones at that point, but nothing that was significant.

[00:03:46]>> There were like developmental milestones that he was always late on hitting, but not so late that it even sent an alarm to my pediatrician.

[00:03:53]>> But then, when Zach is 6 months old, Robert notices something strange.

[00:04:02]If you would run your hand along his spine, you could feel a small bump in the middle of his back.

[00:04:08]>> Concerned, the parents make an appointment with their pediatrician right away.

[00:04:12]>> And I'd asked the doctor about it, and he kind of passed it off at the time, saying, "Well, his abdominal muscles seem a little bit weak, and that might be part of the problem. It could be a transient issue. Let's see how it goes as he gets a little bit older and we'll see if it straightens itself out.

[00:04:29]>> 6 months go by and the bump hasn't gotten any worse. But it's clear that Zach is still developing more slowly than other kids.

[00:04:36]>> So the doctor said, "Since he's not crawling and he's a year, I want you to take him to the neurologist."

[00:04:42]>> 2 days later, the Townsley's have an appointment with the neurologist.

[00:04:46]>> And he gave him a very, very simple test. He ripped off a little piece of the liner that goes on the patient's bed and held it in front of him and said, "Take this, Zach." And Zach did. And he said, "Okay, his fine motor muscles okay. I don't want to do an MRI. I don't want to subject him to that at one year old."

[00:05:04]>> The neurologist felt that his developmental delays were probably transient. He wasn't too concerned at that point.

[00:05:11]>> He said, "I think it's just a developmental delay. He'll catch up by three." But because of Janine's family's genetic history, the neurologist suggests the Townsley's do some more genetic testing as a precautionary measure.

[00:05:23]>> He said, "I want you to go get a high resolution blood chromosome test."

[00:05:29]>> A week later, Zach's blood is drawn and sent away for testing while the town's lease anxiously await the results.

[00:05:37]The test showed that his chromosomes appeared to be normal. There wasn't any chromosomeal issues. And you once we heard that, we were assuming that, okay, everything's fine. It's not some kind of genetic issue.

[00:05:52]>> Over the next several months, Janine and Robert watch as Zach continues to make slow developmental gains.

[00:05:59]>> Janine kept telling me every time she went to the doctor on a monthly basis that everything was fine and he had gained weight and that this was good and that was good. She was telling me a lot of good things, but I was a little bit suspicious about his actual developmental things.

[00:06:13]>> When we went to our year and a half visit, he was walking. His knees were a little bent, and the doctor was like, "Well, you know, he's just learning to walk. He's a little kid. Don't worry about it. It'll straighten itself out."

[00:06:23]So, okay, don't worry about it. I'm clean. Don't worry about it.

[00:06:27]>> But at 2 years old, Zach is still not where he should be. The family pediatrician begins to show some concern.

[00:06:36]He said, "Let's help him out a little bit. I want you to go get an occupational therapist, a physical therapist, and a speech therapist."

[00:06:44]The Townsley's schedule is suddenly filled with therapy appointments.

[00:06:51]Zach enjoyed the physical therapy and he was making gains. He was improving in things. His walking was getting better.

[00:06:58]He was getting better use of his hands and a little better mobility. But in one area, Zach isn't making any progress at all.

[00:07:08]>> Zach didn't communicate using speech very well. He used very few words.

[00:07:16]>> He seemed to have fool around with his tongue in his mouth a great deal. At a great deal of the time, the tongue was out of his mouth. That kind of thing.

[00:07:25]>> He would say mi instead of mommy. That was my favorite. Um, and then instead of good night, good night. So, he was like leaving off sounds here and there.

[00:07:36]Wasn't anything terribly alarming, but you certainly needed to know Zach.

[00:07:41]>> The speech therapist continues to work hard with Zach, but he doesn't seem to be getting any better. And after a few more weeks, she begins to suspect his problems with language might not be solely developmental.

[00:07:55]She didn't feel he was hearing very well. And she specifically asked, you know, do you think he's he's hearing?

[00:08:02]And we're like, yeah, because if you call his name, he he will respond to you. There's a loud noise, he will respond. And she suggested, well, you should probably get it checked out just to be sure.

[00:08:16]>> Despite some skepticism, Janine makes an appointment with a local aiologist. We arrive at the hospital and she says to me, "Hi, Mom. Do you what do you think?

[00:08:26]Do you think Zach can hear?" And I said, "Oh, absolutely." And she said, "Oh, good. Come. We're going to go into the soundproof box, go in with him, and I'm going to have some noise and we're going to give him a test." And he's not paying any attention to the noise. None. It's like it's not even happening.

[00:08:42]After a while, the aologist opens the door again and reiterates, "Mommy, do you think he can hear?

[00:08:58]Janine and Robert Townsley's son, Zachary, has spent the last 3 months in intense occupational, physical, and speech therapy to help with his developmental delays. His parents have been encouraged by the progress he's made. But when they take Zach to get his hearing tested, they're completely unprepared for what the aiologist tells them.

[00:09:19]It was very surprising to hear the aiologist say, "Well, he's only really hearing at a 20% level of a normal child."

[00:09:27]I was like, "No, not Zack. Zach can hear fine." Well, okay. Maybe I have to yell at him a little louder than I would normally, but I, you know, I just pass it off to stubbornness. Next, the aiologist puts a vibrating tuning fork against Zach's head and performs a bone conduction test. If Zach can hear the tune, the problem is conductive, meaning there's some sort of blockage caused by fluid buildup. If he can't, it means he sustained damage to his auditory nerves, a much more serious problem.

[00:09:58]>> And as soon as they did that, they saw him responding immediately.

[00:10:02]>> The conclusion was that he had a buildup of fluid in his ear that was causing a conductive hearing loss.

[00:10:10]But the aiologist said the the good thing about it is that it is treatable.

[00:10:14]if we can remove the fluid that's inside his ears, he'll be able to hear much better.

[00:10:19]>> And so I go back to my physical therapist and I report to them, Zach has a conductive hearing loss. And they say to me, "Tada! That's why he walks with bent knees, Mom. His equilibrium is thrown off by the water." So I was like, "Oh, everything's going to be solved.

[00:10:34]We'll fix these ears and Zach will just begin to blossom like Joshua did. It's just a little manufacturer defect. Zach is a common problem amongst young children and can be easily remedied with a minor surgery.

[00:10:48]>> We were a little bit nervous because you you never know what's going to happen.

[00:10:53]Are there going to be any problems or any complications?

[00:10:56]And as a parent, you're you have absolutely no control over the situation and it it's frightening. The Townsley's bring Zach in for the procedure during which the surgeon implants a small plastic tube in Zach's eardrum. This will help the fluid drain out of his middle ear.

[00:11:16]After about a year, the tubes naturally fall out and most children never have another auditory issue.

[00:11:27]The surgery went fine and after that um the doctor was optimistic that Zach would be able to hear much better. Sure enough, in the weeks following the surgery, Janine and Robert are amazed at Zach's progress.

[00:11:42]>> They put the tubes in, and that seemed to have improved things a great deal for him. He responded more to speech.

[00:11:50]>> He seemed to be hearing much better. Um, his balance seemed a lot better and he spoke a lot more. And we were pretty convinced that, wow, this was what Zach's problem was.

[00:12:02]>> His physical therapist was so excited.

[00:12:04]She's like, "It's like overnight. He can do things he couldn't do before." And I was saying, "Finally, we're done."

[00:12:11]>> Zach continues to make progress, but by the time he is 3 years old, the Townsley's begin to pick up on other odd characteristics.

[00:12:21]>> I remember them measuring his head once and saying to me, "No, that can't be right. Let me try again, Mom." And I said to Robert, "See how smart he is?

[00:12:28]His brains are so big. His skull is getting bigger. Then also his weight."

[00:12:32]He was, they were always like, "He can't be that heavy because he's not chunky.

[00:12:35]How can he be that big?"

[00:12:40]>> He was starting to have trouble with uh tightness in his joints and he had almost no range of motion in his arms.

[00:12:48]He couldn't touch his head with his hands. And he walked with kind of a a bent over old man posture.

[00:12:58]As the months pass, Janine and Robert notice Zach's initial improvement beginning to slow down.

[00:13:06]Well, Zach didn't really pick up speech as fast as we had hoped.

[00:13:12]Zach would speak, but it was very garbled, very hard to understand, and other than Janine and myself, most people couldn't understand what he was saying. He was in many ways like a normal little boy, but he wasn't able to do the same things that other children did. The tongue was frequently out of his mouth. There was not too much speech, if any, yelping and that kind of thing to make his wishes known.

[00:13:41]>> You know, he's not where we want him to be. But the neurologist said by 3 he would have caught up. I was going, "What's wrong with him?

[00:13:57]Since he was born, doctors have assured Zachary Townsley's parents that his developmental delays should disappear by the time he turns three. But three comes and goes, and Zach continues to fall behind. Then, when he's 3 and a half, the Townsley's notice his physical appearance actually starts to change.

[00:14:19]He had a lowered nasal bridge. Um he had um an extra fold of skin by the inside of the eyes.

[00:14:29]He was starting to develop issues with his hands where he couldn't extend the fingers out completely and he couldn't make a fist completely where the joints were so tight in his hands and with the rest of his body.

[00:14:42]The Townsley's take Zach into the pediatrician for a routine visit, but they are completely unprepared for what he tells them next.

[00:14:52]>> At that time, they said to me, "Mommy, I think you should take him to see a geneticist." I immediately put up my protest again. We've already done this.

[00:15:01]You've given him the high resolution blood chromosome test. He's fine.

[00:15:06]And he said, "Mommy, you didn't see it.

[00:15:09]Geneticist said, "Yes, I did. and you took the blood. Remember we sent it? He said, "No." I said, "I want you to go see a geneticist."

[00:15:17]>> The pediatrician explains that though a basic genetic blood workup had been performed, a geneticist will need to thoroughly examine Zach and then decide what additional tests need to be run.

[00:15:30]>> As soon as he said, "I want you to go see a geneticist," I knew what he wasn't saying. There's something wrong.

[00:15:39]I was very scared because, you know, there there's always that thought in the back of your head, you know, well, maybe the test was wrong when we were screened.

[00:15:50]>> Fearing the worst, the Townsley's make an appointment with geneticist Dr. Paul Beni.

[00:15:56]>> When he saw us walking in the hallway as we were coming in, he looked at Zach and he said to us, "What took you so long to get here?"

[00:16:03]And I looked at Robert like, what does he know that we don't?

[00:16:08]>> Zach came to my clinic and he looked like other boys in many ways, but he had slightly coarse features and he didn't move his hands very well. His forehead is a little thickened. His uh front of his face is a little bit fuller than we usually see. His lips were a little bit fuller than we usually see. He had some hearing issues.

[00:16:29]>> Dr. Benke takes one look at Zach and already begins to narrow the possibilities down. He then conducts a full interview with the Townsley's hoping to gather more clues. We took the family history. We found that there was a positive family history for a similarly affected u relative years ago. The mother's mother's brother uh had similar course features and died as a teenager. Right away, he knows this is a critical piece of information, but it's still too soon to make a determination. Next, Dr. Beni meticulously examines every inch of Zach's body.

[00:17:12]Zach's uh physical examination was key here because he had these slightly coarse features.

[00:17:18]>> Dr. Binky measured Zach's head, the size of his head.

[00:17:24]>> He looked at his feet. He looked at his hands. He touched them. He manipulated them. He asked me about how he ate with them.

[00:17:30]>> Dr. Beni now has a hunch it's one of two things and thinks the answer may lie in Zach's eyes. As a last step, he takes Zach into a darkened room where he examines them with a bright light.

[00:17:42]>> After Dr. Dr. Beni looked at his eyes.

[00:17:44]He said to me, "I'm 97% sure what Zachary has, but I need you to go and have a blood test done before I can, you know, go through all what the what the implications of this is." And so he gives us the information and tells me to take him home and to love him.

[00:18:02]>> Zach's blood is drawn and sent off to the one lab in the country that tests for the disorder Dr. Beni suspects.

[00:18:11]It's a very sinking feeling knowing that there's something wrong with your child.

[00:18:19]You always hold out hope that maybe the doctor's wrong. You know, there is always that small chance that it's not what he thinks it is. Um, and you're you're really wanting to get that phone call with the results, but at the same time dreading getting it.

[00:18:42]Since shortly after he was born, Zachary Townsley has suffered developmental delays and exhibited bizarre physical characteristics. His parents, Robert and Janine, were told time and time again not to worry. But when geneticist Paul Binky meets Zach, he believes there is a serious problem and orders specialized blood work. The Townsley's want to find out what's wrong with Zach, but also fear what they might discover.

[00:19:07]They told me it would be 5 weeks and I proceeded to call Dr. Beni. 5 weeks in 1 day, 5 weeks in 2 days, 5 weeks and 3 days, 5 weeks and 4 days. And he wasn't returning my call. And so I said to my sister again, "See, he's fine."

[00:19:23]>> Finally, after an excruciating weight, the results come back. Dr. Benke immediately picks up the phone to call the Townsley's.

[00:19:33]>> He said, "Mrs. Townsley." I said, "Yes."

[00:19:36]said, "It is as we expected." And I thought we didn't expect anything. We were expecting you to tell me that everything is fine cuz that's what every doctor has ever told me is that everything is fine and I'm an overbearing mommy.

[00:19:49]>> But despite the other doctor's assurances that Zach is fine, the results confirm what Dr. Beny suspected from the moment he laid eyes on Zach.

[00:19:58]>> They revealed that Zach had Hunter syndrome.

[00:20:02]Hunter syndrome is an extremely rare genetic disease in which the body lacks the enzyme that breaks down the sugar molecule called mucopolysaccharide which is found in cells, mucus and joint lubricating fluid. Without the enzyme, the sugar molecules build up in the body and wreak havoc.

[00:20:20]>> Cells swell up, they become ineffective.

[00:20:23]The heart swells up. It it doesn't beat as well. the tissue connective tissue uh glue so to speak is not broken down and so the hands become immobile. There's a little mucopolyaccharide in the hair so the hair becomes thicker. U mucopolyaccharides are also stored in the brain and so the brain become with time becomes less functional >> and as it turns out Zach's protruding spine and hearing problems were also caused by the excess sugar molecules.

[00:20:49]Mucopolyaccharide is stored in the ear.

[00:20:52]So, individuals start to lose um hearing.

[00:20:56]>> Hunters is caused by a defective X chromosome. Women can be carriers, but men are the ones affected.

[00:21:02]>> The way it works is that mommy me is has two X's and daddy has either the X or the Y. And my have one good X, Joshua has it, and I have one bad X. Zachary has it. Robert, if he gave me an X, we'd never know. But he gave me a Y. And Suzak only has one good, one Y, and one X. He got the bad X. So now he has Hector syndrome.

[00:21:28]>> Then the Townsley's ask the question they've been dreading to have answered.

[00:21:32]>> Well, what's your prognosis?

[00:21:34]And he says, well, he could live 7 years or he could live 87. You should see things changing at about 7 years. Things getting worse.

[00:21:45]confirming something that you've always had in the back of your head is is, you know, the worst thing that could possibly happen. To hear that he had Hunter syndrome was um it was devastating.

[00:21:57]It was particularly devastating for another reason. The family had always believed that Janine's uncle Mark died of a related genetic disorder called Hurler's syndrome. And that was the disorder they were tested for before they had children. The visible differences between the disorders are so subtle only an experienced geneticist like Dr. Beni is able to pick up on them. Children who has hurler syndrome frequently have clouding or of their cornea which leads to something called cataracts. Importantly, Zach had clear corneas.

[00:22:30]>> I said to my grandmother when Mark was little, were his eyes clear or were they cloudy? She goes, "His eyes were always clear." I said again, he has, you know, what's >> it seems Janine's uncle probably had Hunter syndrome as well, but nobody knew it.

[00:22:45]>> All our previous testing had been uh looking for the wrong diagnosis, looking for the wrong problem.

[00:22:55]>> There is still a lot unknown about this very rare disorder, including the cause of the genetic defect. But in the years since Zach's diagnosis, there's been a major breakthrough. We have something called enzyme replacement therapy. If he had gone undiagnosed, he would have gone the way of what happened years ago when people just sort of let things happen uh and he would have died as a teenager.

[00:23:14]Now, uh we have therapy so that Zach could have a more normal life. His hands can become more mobile and he can play like other children. After Zach starts on the enzyme replacement therapy, the Townsley's quickly notice a change for the better.

[00:23:29]>> His teachers say his attendance span is better. Yay. Um, he's able to eat better. That's beautiful. He can run for longer and play for longer than he used to be able to. His hair is softer. His skin is softer.

[00:23:43]His tongue has shrunk. He's just doing better all in all.

[00:23:47]>> He's responded very well. The good news uh about enzyme replacement therapy is that Zach's daily functions have increased dramatically.

[00:23:55]>> It's not a cure for Hunter syndrome. It does not currently address the problems with the central nervous system, but it does help with most of the other physical problems that children with Hunter syndrome have. And we're hoping that in time they will have uh the ability to get the drug into the central nervous system.

[00:24:15]>> Today, after nearly a year of the therapy, Zach is doing well and the Townsley's have high hopes for the future. He's running around. He's playing. He's happy. He's smiling. He laughs. You know, he's he's Zach.

[00:24:30]>> I've informed all his doctors that he will be 87. So, they need to get used to they need to adjust to him. You're going to have him for a long time. I'll be pushing him in at 54.

[00:24:40]>> Zachary Townsley's problems began to manifest themselves at a very early age.

[00:24:46]But Danielle Mesinati has hardly been sick a day in her life when out of the blue she is struck with a debilitating illness. At 22, Danielle is just a few months away from getting her degree in psychology. But then one day, everything changes.

[00:25:04]I was at work. Um I had just eaten about an hour before and sat down. Um and all of a sudden I felt sick to my stomach. I felt a heat wave come over me and I just ran for the bathroom and started vomiting and I just couldn't stop.

[00:25:22]We got a phone call telling us that she was had been throwing up after she finished eating lunch and that she might be coming home cuz she was really sick.

[00:25:31]And I drove about a 45minute drive back to my house and um made it just in time and still continued to vomit at home.

[00:25:43]By the time Danielle finally gets to sleep that night, she's vomited over 20 times. Her family hopes it's just a bad case of food poisoning.

[00:25:51]>> It had never been that my like stomach flu had never been that bad before. The first time I vomited, it was it was food. Um, and when I kept vomiting and vomiting, it turned to like this greenish color and it was foamy.

[00:26:05]Danielle was really, really sick and feeling her stomach was hurting and she just didn't look good. She almost looked gray almost.

[00:26:16]>> I called my family doctor and they got me an appointment right away.

[00:26:23]My doctor told me that it was just a um stomach bug. She gave me some anti-nausea medicine and um told me that if I didn't stop vomiting that to go to the emergency room.

[00:26:38]We didn't know, you know, what to expect, but she came home and she was vomiting. I mean, just couldn't stop and there was nothing that she was really throwing up, just the bile and just feeling very nauseous. So, we went to the hospital and that's when things started happening.

[00:26:56]>> In the ER, Danielle's uncontrollable vomiting continues. When blood tests show that she is severely dehydrated and her electrolytes are out of whack, she's immediately given anti vomiting drugs and admitted for testing.

[00:27:17]The tests all came back negative and blood work was normal except for the fact that I was dehydrated.

[00:27:26]>> The medication works well enough that Danielle stops vomiting and doctors are able to take her medical history. When she tells them that gallstones run in her family, suddenly everything makes sense. Gallstones are hardened rock-like pieces of bile that collect in the gallbladder and can cause the pain and vomiting that Danielle is experiencing.

[00:27:46]But surprisingly, scans of her gallbladder and stomach come back normal.

[00:27:52]>> They ruled that out as a um you know, a possibility.

[00:27:57]So, they discharged her and we had to take her home.

[00:28:00]>> Danielle heads home still feeling nauseous, but happy that at least the vomiting has stopped. Within 24 hours, however, the meds wear off and it starts all over again.

[00:28:12]>> My wife and I were very, very concerned at that point. She was really in a lot of pain, still throwing up, not being able to sleep.

[00:28:19]>> The Mezzanadis rushed Danielle back to the ER. Her condition is so alarming that this time the doctors administer the anti vomiting medication through IV.

[00:28:31]>> It did work for a while. Um, it got her stabilized. She wasn't throwing up as much, although she did feel sick to her stomach and she still did have pains.

[00:28:43]>> As before, the doctors run tests, but can't find anything wrong. So, Danielle, stable once again, is discharged and sent home.

[00:28:52]>> Once they release her, the medication wore off. It was probably about 4 hours and I started vomiting again and couldn't stop. Why is everything coming back negative when I'm still vomiting like this?

[00:29:13]Danielle Mesinati has been vomiting uncontrollably for the past week and no doctor has been able to tell her why.

[00:29:20]The only relief comes with the help of IV anti-imetics she receives in the ER, but it is temporary. Within hours of being discharged, the violent vomiting begins again. And over the next two weeks, Danielle falls into a grim routine.

[00:29:36]>> It was pretty much in and out of the emergency room. Every single time um they would get me to stop vomiting for about 4 hours with the IV medications.

[00:29:46]Um I would they would think that I'm all better and I'm not going to vomit anymore and they would send me home with oral medications and those didn't work for me. Now, after three straight weeks, the vomiting has wre havoc on Danielle's body.

[00:30:02]>> After all the vomiting and all the force, my stomach was just sore and I was getting really weak and losing a lot of weight.

[00:30:09]>> She would just come home and lay on the couch. And basically, at that point, it was just like, "Okay, I'm just waiting till I go back again to the emergency room."

[00:30:17]>> After weeks with no answers in sight, Danielle is finally referred to a gastroenterenterologist.

[00:30:22]The first meeting with the gastroenterenterologist, he admitted me to the hospital for a weekend to take to to take care of me and to do some more um tests and they stopped the vomiting for the whole weekend.

[00:30:35]>> The gastroenterenterologist wants to get a clear look at Danielle's digestive tract. So, he decides to perform a colonoscopy, a procedure that allows the doctor to look at the inside of Danielle's colon. You don't know how much my wife and I prayed that the um the GI doctor found something because at this point they had already pretty much said we don't know what to do.

[00:31:00]>> But once again, the tests come back with normal results. It is then that Danielle's GP decides to take a radically different approach.

[00:31:08]>> My primary care physician referred me to the surgeon because she thought it still could be my gallbladder. Surgery is a drastic step, but at this point, Danielle is willing to try anything.

[00:31:20]>> I was kind of happy. Normally, I would be very scared, but after being sick for so long, I just wanted someone to find out what was wrong. I had lost about 30 lbs. At this point, my eyes had turned red. The insides of my eyes had turned red.

[00:31:34]>> Her vomiting was so violent that the vessels in her eyes would break.

[00:31:39]>> At their first meeting, the surgeon takes one look at Danielle and admits her to the hospital. After a thorough exam, he agrees that the gall stone theory has some merit. It's possible the stones are just so small that they're not being picked up on regular tests. He decides to perform a special scan that tests how well Danielle's gallbladder is functioning.

[00:32:00]>> It's supposed to be um a minimum of 30% and mine was only 16% functioning.

[00:32:07]Danielle is diagnosed with choleiccyitis or inflammation of the gallbladder normally caused by a gall stone stuck in the neck of the gallbladder. Within 30 minutes, Danielle is prepped and ready for surgery to remove her gallbladder.

[00:32:21]>> I was really nervous about having the surgery, but at the same time, I was very excited to to to think that this might be the answer as to why I've been so sick. We were hoping that this was finally the light at the end of the tunnel that okay, it is her gallbladder just like my mother-in-law, just like my wife, just like my sister-in-law, and things would go back to normal.

[00:32:47]4 hours later, Danielle slowly comes out of the anesthesia and for the first time in weeks, doesn't feel like throwing up.

[00:32:55]>> After the surgery, I was able to eat. I was able to drink. I had no nausea whatsoever. A little bit of pain from the surgery, but I was on medication for that and I felt 100% better.

[00:33:08]>> After 3 days recovering in the hospital, Danielle is discharged and heads home.

[00:33:13]>> I was able to do many things that I hadn't done and everything seemed to be going really well.

[00:33:18]>> But then the inconceivable happens.

[00:33:20]Danielle starts vomiting again.

[00:33:25]Oh god, that was just horrible. Seeing her sick again, thinking we thought we fixed the problem. It got frustrating and now where do we go next?

[00:33:34]>> The Mezzanadis rush back to the ER where doctors are shocked to discover that removing Danielle's gallbladder didn't do the trick. They admit her and page her surgeon to see if there's anything more he can do. When I went back to the surgeon, he um said he really didn't know again what it was, but the pain I was having had moved down to my right side and lower, and he thought that maybe it could be my appendix.

[00:34:03]>> Danielle is prepped for an emergency appendecttomy.

[00:34:08]>> This time with the surgery, I wasn't as worried. I just was more fed up than anything. and just do whatever you have to do to figure out what is wrong with me.

[00:34:18]>> I was very nervous because there were no guarantees at that point. Here he is starting to remove body parts.

[00:34:25]>> Okay, we we understand that you could live without your gallbladder. You could live without your appendix, but that's two body parts that she doesn't have anymore.

[00:34:34]>> 4 hours after the surgeon makes his first cut, Danielle wakes up in posttop and again she's feeling much better.

[00:34:42]The surgery went really well. Um, they removed my appendix and when they did the exploratory surgery, they really didn't find um, anything wrong.

[00:34:52]>> After a quick recovery period in the hospital, Danielle heads home, but she's barely home 36 hours before it starts all over again.

[00:35:06]I was pretty devastated. They just No one knew what was going on. I really didn't think anyone would ever figure out what was wrong with me.

[00:35:14]>> She said she wanted to die. She would have been better off dying because they weren't helping her.

[00:35:19]>> Danielle rushes back to the hospital, dangerously weak and desperate for help.

[00:35:25]>> At this point, I was losing way too much weight. My gastroenterologist decided to put in a pickline to help feed me through it. This way, I was getting nourished at the same time when I couldn't keep anything down.

[00:35:40]The gastroenterenterologist orders a new round of tests, but this time when the results come back normal, he begins to suspect the problem may not be entirely physical.

[00:35:51]>> After a while, when I couldn't, you know, stop vomiting and all the surgeries hadn't worked and all the tests were coming back negative, the doctors started to think it was all in my head. They had asked me if she would used to put her fingers down her throat or used to make herself throw up. They were suggesting that she was actually making herself sick. That I couldn't believe. But again, at that point, I was reaching for straws. I was looking for anything.

[00:36:19]>> After all the psychological tests came back and everything was normal. Um they they referred me back to the gastroenterenterologist who said he doesn't know what is wrong and he doesn't know how how else to help me.

[00:36:35]They said they couldn't do any more for us at that hospital. There's something wrong with her and you got to help her.

[00:36:41]And and everybody's saying, "Well, we can't help her now anymore. We've done everything." And it's like, "No, you didn't do everything because she's still sick."

[00:36:52]>> She had told me that she thought that she would die that way, that she would be sick forever, and that she would never get back.

[00:37:08]22-year-old Danielle Mesinati is devastated when after 8 weeks of non-stop vomiting and two surgeries, doctors tell her there is nothing more they can do to help her and send her on her way.

[00:37:20]>> I was in disbelief. I was like, how can you turn someone away? Danielle refuses to give up and instead travels 30 miles to Yale University Hospital, hopeful that the doctors there will be able to put an end to the nightmare.

[00:37:36]They were concerned right away cuz I did have a pickline. So, they knew something had been going on with me. Um, we explained the story and they were saying, "We are going to find out what is wrong with you." and they were just running all kinds of tests there. Um, they had a huge team of doctors come in on a regular basis and they were looking at all kinds of things.

[00:38:01]>> Everything was coming back negative.

[00:38:03]They weren't finding anything wrong whatsoever.

[00:38:06]>> Danielle's attending physician is stumped. How are all of Danielle's tests coming back with normal results when she's clearly so sick? The physician brings in gastroenterologist Priya Jamadar to take a closer look.

[00:38:19]>> Well, frankly, I wasn't quite sure what was going on. She clearly looked like she'd been through a lot. All her um investigations were essentially unremarkable. Yet, she was in excruciating pain and was clearly very disabled by her symptoms. After a thorough exam of Danielle and a review of her charts, Dr. Dr. Jamadar thinks that despite all the normal tests, the key to Danielle's diagnosis is a structural problem deep in her digestive tract. But he needs to do a special test called an ERCP to take a closer look at her pancreas and the place where her gallbladder used to be. Vomiting is often a non-specific symptom. There's a lot of possible reasons for that. To make a definitive diagnosis, the the best test we currently have is an ERCP.

[00:39:04]I was really excited just at the way he was talking to me that um he really wasn't sure if this procedure would work or if it would show anything, but he was really willing to try it.

[00:39:17]>> At 8:00 a.m. the next day, Dr. Jamadar works an endoscope down Danielle's throat, through her stomach, and down into her dadum, which is the hollow tube that connects the stomach to the pancreas and bile ducts. A tiny catheter is then passed through the middle of the endoscope and inserted to measure the pressure in the duct. Dr. Jamadar is shocked when he registers the pressure at the sphincter of odi, a small circular muscle located at the junction of the bile and pancreatic ducts. The normal basal sphincter of odi pressure is um is a pressure of under 40 mm or less of mercury. Danielle's was significantly elevated at 70 mm of mercury. She had a sphincter of OD dysfunction.

[00:40:01]>> The sphincter of OD is a one-way valve regulating the flow of fluids from the bile and pancreatic ducts into the bowels. Sphincter of OD dysfunction happens when the muscle becomes too tight and the ducts can't drain properly. The ensuing buildup of bile and pancreatic fluid causes tremendous pain and in Danielle's case, non-stop vomiting. It was trickier to diagnose Danielle because uh her because of her predominant vomiting and uh this is a little this is somewhat atypical for syntovoted dysfunction.

[00:40:33]>> Also complicating Danielle's diagnosis is the fact that this mysterious disorder is relatively rare.

[00:40:38]>> It's really essentially unknown as to what exactly causes a dysfunction of the sphincter in one particular patient.

[00:40:45]It's not seen that often by physicians who perform ERCP. I probably do about a hundred sphincttovi patients a year.

[00:40:53]>> Luckily for Danielle, sphincter of odi dysfunction can be cured right away through a procedure called a sphinctertomy.

[00:40:59]>> Another catheter is inserted into the uh bile and pancreatic ducts and uh this catheter has a little um wire attached.

[00:41:09]It's in the shape of a bow and electric current applied to this wire and the uh sphincter is cut.

[00:41:19]It's just a 1 cm cut that's done internally.

[00:41:22]>> Dr. Jamadar makes the cut, relieving the pressure caused by the tightly wound sphincter of OD, which finally allows the pancreatic and bile ducts to drain.

[00:41:30]Within a few hours, Danielle is awake and feeling better than she has in months.

[00:41:35]>> The next morning, I woke up and I told her, "I don't feel nauseous anymore, Mom." And she just started crying. And I did, too. After the operation, it was like a a a brick was lifted off of us because the weight she looked better. She sounded better. Um she was more like Danielle.

[00:42:01]>> A few days after the surgery, Danielle is discharged from the hospital. For the first time in 9 weeks, she feels she's home for good.

[00:42:08]>> I wasn't nauseous. I was able to eat.

[00:42:11]Um, I went back to my life slowly.

[00:42:15]Having my first real dinner with my family was just the most special thing ever. I, you know, you take for granted those kind of things.

[00:42:26]>> Danielle actually responded extremely well to the intervention. We hope she'll continue this way.

[00:42:31]>> But had she continued to elude diagnosis, Danielle would have had a very difficult future ahead of her.

[00:42:38]>> We don't think dysfunction is a life-threatening condition. And however, it does cause significant disability.

[00:42:43]>> If I hadn't met Dr. Jamar, I really believe that I would still be in the hospital. I just felt like it was just one big circle and I just keep going back and back.

[00:42:52]>> Now, just a year later, Danielle's life is back on track.

[00:42:57]>> Um, Danielle's life today, well, she she lives it to the fullest.

[00:43:03]She has a good time. She's just, you know, doing what she's supposed to do at that age. So, she's enjoying dayto-day.

[00:43:11]>> She's back to Danielle and she's a lot of fun to be with. So, she's she's back to normal as I I always called her my buddy. Yeah, she's my buddy.

[00:43:23]>> My life today is great. I'm, you know, going out on dates with my boyfriend, doing anything, swimming, anything that I love to do, I'm just able to do it.

[00:43:34]And it feels so good.