So I shall start from the beginning. Whilst pregnant we found out at 16 weeks that Levi had bilateral talipes, we went for lots of further scans including scans at a fetal medicine centre. A duodenal atresia was seen and some soft markers pointing towards a genetic condition mainly trisomy 18 and trisomy 21, our consultants tried to talk us into termination. We were told that Levi wouldn't survive the pregnancy or the birth and even if he did that he wouldn't survive long! On return scans the atresia wasn't seen, and little fetal movement was ever seen on ultrasound. We felt big movements but never kicks, but towards the end even these stopped and I had polyhydramnios. We kept returning for yet more scans and monitoring and it was decided to induce 3 days before his due date. The labour went fast and Levi was born weighing 8lbs! His physical disability was immediately noticeable - it was more than just bilateral talipes. Levi was sent for tests, xrays, scans and bloods for genetics. Levi had a heart murmur and some of the soft markers for genetic conditions - low set ears, wide nasal bridge, down pointing eyes, micrognathia, high and narrow palate, no creases, no reflexes. Levi's feeding was very poor, but we were discharged a couple of days later. It wasn't for long as at 2 weeks he was rushed back into intensive care. Levi ended up on oxygen, after lots more tests etc. they found Levi was having absence seizures. He had sleep apnea, unsafe swallow due to aspiration, uncoordinated suck-swallow-breathe and Levi had his first NG tube inserted! Levi was finally discharged but things don't get any easier just cause they are not in hospital - it's still a daily fight in and out of hospital and lots of appointments with daily therapies! It has been a long road ever since with many bumps. Levi has been in and out of hospital ever since BUT he still has NO DIAGNOSIS. Levi's doctors call him a mystery and say that looks can be very deceiving, he has been discharged by some doctors.
We have had lots of opinions and up to now they have found: Levi has arthrogryposis affecting his jaw (giving him a 1cm opening), both his shoulders, both wrists, all fingers, both hips, both knees, all toes and ankles(bilateral talipes). His spine has began to curve.
Hypotonia everywhere, he's awaiting an appointment with a muscle specialist as they say he has no power (not caused by the arthrogryposis). Levi cannot weight bear and we have been told his joints are not strong enough to do so. They think he has a neurological condition but it can take until they are between the ages of 2 and 3 for it to show on an MRI. Caudal regression is queried. He has a high narrow palate, unsafe swallow due to aspiration, no reflexes, narrow floppy airway, laryngomalacia, thick mucus to his lungs and upper airway, excess secretions, low immune system, recurring chest infections (queried cystic fibrosis got to wait and see), sleep apnea, constipation, reflux (queried Sandifer syndrome), absence seizures, long QT syndrome.
So far a couple of variations have been found in Levi's DNA but they have never been seen together before. They don't know what the future holds or why Levi is like he is, Levi may never get an official diagnosis but he is a warrior and will continue to fight.