Medical treatment

Hospitals are the worst places in the world especially when a child is the patient. Unfortunately they are a big part of our family life. Alicja had 10 stays in different hospitals during the first year of her life. She had 3 serious surgeries and 1 three days’ examination on her hearing. The rest of her stays were related to infections, which had to be treated in hospitals. She also was in hospitals many times for one day’s examinations.

First surgery

Her first surgery on coarctation of the aorta was carried out when Alicja was three weeks old. That was an extremely difficult procedure, fortunately completed successfully. Alicja has been asleep for two days after surgery. She was in huge pain so she was on different pain reliefs including morphine. In remembrance of it she has a big scar on her back.

Alicja still has two more defects on her heart and we still don’t know whether they will have to be operated. We just hope that this will never have to happen.

Second surgery

At the age of 7 months Alicja underwent a surgery of grommet insertion into her left ear and of drainage of her inner ear. Our daughter has permanent fluids in her inner ears which further decrease her hearing ability. The purpose of putting grommet is to bring the fluids out of the ear and improves hearing. This grommet usually falls out every 6 to 12 months so it has to be reinserted. In the right ear though, no grommet can be inserted due to the malformation of her ear canal.

Third surgery - PEG tube insertion

Alicja’s third surgery was carried out on the 12th of April 2010. That was a PEG tube insertion. In theory it is a quite easy operation. In reality, it hasn’t been done without complications. The doctors had many difficulties with anesthesia. In the middle of the procedure, they found Alicja’s airways were very difficult for intubation. The surgery took over two hours instead of one hour. Finally it was successful but Alicja’s life was at risk and they damaged her front teeth. Luckily, a dentist was called to the theatre, he stitched the teeth and thanks to that Alicja has saved them. However, the above experience leaves us with a big fear for our little girl’s future anesthetics. It is now obvious that she is very difficult for intubation and at risk for any procedure. All her surgeries have to be carried out by a very experienced pediatric anesthetic doctor, which not only makes us travel to Dublin for every tiny procedure but also makes our long waiting lists even longer.

Having said that, once Alicja recovered from the surgery and from a very bad infection she had picked in the hospital, we could really appreciate the difference between a naso-gastric tube and a PEG tube. It’s just thousand times better for us and for Alicja.

Medical examinations

Heart

After her heart surgery Alicja had a couple of follow up scans. However, the most detailed heart examination was carried out in Dublin in February 2010, 9 months after the surgery. Doctors had good news for us: Alicja’s heart is fine. However the consultant’s explanation was very brief and we were not really informed what he meant by “good”. Will Alicja have to undergo a second heart surgery that doctors were planning at the age of one or two if the hole in her heart doesn’t fill? We didn’t get a definite answer to that. The next heart follow up appointment in Dublin has been arranged for February 2011, so, fingers crossed…

Hearing

ABR (Brainstem Evoked Response Audiometry) test is the most accurate test that we can do to measure a person’s hearing. Alicja already had 5 ABR’s on different occasions and in different places. All that to make sure that she is almost completely deaf (90-100 db in both ears). We know that the only way to enable Alicja to learn speech would be a cochlear implant (surgically inserted device that largely improves the quality of hearing in people with sensorineural hearing impairment).

Due to a prolonged waiting list at the cochlear implant clinic in Dublin, we made an appointment at the cochlear implant clinic in Poland where Alicja underwent a three days assessment at the end of June 2010.

The results of that assessment were not conclusive. We were informed that Alicja’s right ear wasn’t suitable for an implant because of an external and internal malformation of its structures but we still hoped that her left ear will be different.

In July, we have sent results of Alicja’s MRI scan to the polish clinic and we got their response in early September: Alicja will probably not be able to have cochlear implant in her left ear due to nerves damage (nerves complex no VII and VIII) and overall malformations of internal ear. Our hopes to improve our daughter’s quality of life have again been crushed… Our Polish doctor suggested Alicja to be seen by Dr Skarzynski, the main consultant ENT surgeon in Warsaw. We are now on his waiting list and hope to see him in December 2010. Before the visit though, we will have to do a CT scan of Alicja’s inner ears structure, which unfortunately will have to be done under general anesthetic again.

ABR test under general anaesthetic

Auditory Brainstem Response (ABR) test was carried out on Alicja again, under general anaesthetic this time to ensure the most accurate result. In fact the results were not much varied from the ones we got under natural sleep. Alicja has response at between 90 and 100dB in both ears.

MRI of the head under general anaesthetic

This MRI took place at the end of March under general anaesthetic.

Unfortunately, the results of the head MRI gave us very bad news about our daughter’s hearing. While ready to discuss with doctors, which of Alicja’s ears would be more suitable to put a cochlear implant in, we were not prepared to what we’ve heard from the consultant: „The MRI of Alicja‘s head showed a very unusual condition: NO HEARING NERVES AT ALL. These are organs without which no hearing is possible, your daughter just never had and will never have this sense. A cochlear implant will not change anything, nor will the hearing aids. We cannot help your daughter; sign language will be the only way she can communicate with her surroundings. Not having hearing nerves is an extremely rare condition; Alicja is only the 5th case in my whole carrier…”

We now plan to visit The Manchester Hospital to find out if Alicja could be suitable for a Auditory Brainstem Implant.

Auditory Brainstem Implant (ABI)

ABI can be used when a Cochlear Implant cannot be considered. It is a surgically implanted electronic device that provides a sense of sound to a person who is profoundly deaf, due to sensorineural hearing impairment. The device is inserted directly to the brain stem, so the decision about the surgery has to be taken very carefully.

Only about a thousand recipients have been implanted with an auditory brain stem implant so far and they are mostly adults. However, the children that have been implanted benefit of it usually as much as children with a cochlear implant.

An ABI is the only chance for Alicja to have at least some hearing.

Vision

When Alicja was born, we were told that she might be blind or just see the light. Luckily, that wasn’t true but we are still worried for our daughter’s quality of vision in the future.

Coloboma

Alicja’s visual impairment is mostly caused by coloboma which is a hole in one of the structures of the eyes. Sometimes coloboma can only affect the way the pupils look and be benign for the vision, but unfortunately it isn’t so in Alicja’s case. Our little girl has classical coloboma pupils of a shape of key-holes which causes too much light entering to her eyes. She also has iris, retina, choroid and optic nerve coloboma in both eyes which causes at least 50% of her vision damage. The coloboma cannot be treated, even though sometimes glasses are required to protect the eyes and to prevent too much light further disturbing the vision.

Cataract

On top of coloboma, Alicja has cataract in her both eyes. It has been described as soft as it covers 10% of her pupils. That means she can live with this without having an operation unless it starts growing and covers over 30% of her pupils. Then it can have bad influence on her vision. We hope this will never happen, as a cataract surgery would be particularly dangerous for Alicja’s delicate eyes.

VEP test (Visually Evoked Potential)

When Alicja was 5 months old we carried out a VEP test (Visually Evoked Potential) which showed that impulse goes through eyes to her brain in both eyes (the result was better in her right eye). While the test showed us that our little girl can see with both eyes, this didn’t say anything about the quality of her vision.

Left eyelid ptosis

Due to the left eyelid ptosis, Alicja’s left eye is always half closed. This prevents proper development of this eye and diminishes her ability to use both eyes together. We heard about surgeries that can raise this eyelid up but none of the ophthalmologists we have seen advised it to us. Some of them say that this kind of procedure would be only cosmetic and wouldn’t improve her vision; others try to convince us that it is too dangerous to do another surgery on a child as sick as Alicja, without even saying if the surgery would be possible.

Right eyelid

In comparison to Alicja’s left eyelid, her right one seams good and healthy. Unfortunately, it has even more of a problem. This eyelid doesn’t have blinking reflex, so it never fully closes, even in the sleep. Due to that Alicja is oversensitive to day light (of course coloboma makes it even worse). Our child spend the whole time outside with her hand covering her right eye and, even with this, her eye is always red after the walk. We are also very anxious that, in the future, she can easily damage her exposed eye. And her right eye is the one that has better vision…

First glasses

At the end of March 2011 eye doctors finally discovered that, on top of coloboma, pathologic nystagmus, cataract and eyelids problems (that cannot be corrected with glasses), Alicja also has myopia (short sightedness). She has a medium myopia in her right eye (-5,5 dioptres) and a high myopia in her left eye (-11).

We got a prescription for very special glasses, strong but light, with special bands (due to the ears shape). They also go dark with the day light.

So far, Alicja prefers to use them as a toy rather than to wear them. We hope though, she will start wearing them for good one day, as they also aim to protect her eyes.

Right leg

Alicja was born with serious right leg malformation (tibia aplasia with fixed talipes). She has no tibia bone which normally, together with femur (thigh bone) form a knee joint and on which rests the foot. Due to absence of this main bone the leg has neither the knee joint nor the ankle joint. The little bone (fibula) is only connected to the thigh and the foot by skin and nerves. The lower leg hangs down inertly even if Alicja is able to respond to external stimuli on that part of the leg (that is important during her rehabilitation).

When Alicja was born we had hoped that it is easy to reconstruct the leg. Unfortunately many orthopedic doctors we met said that it would be very difficult to fix the leg and all of them suggested amputation and prosthesis implantation. We are still looking for more opinions to make one hundred percent sure there is no other way than amputation.

Orthopedic clinic in Aschau (Germany)

We heard that there was a good orthopaedic clinic in Aschau, Germany. We have contacted one of its consultants who was very optimistic saying that he could fix Alicja’s leg. However, first of all, he wanted us to come to the clinic for two weeks assessment that would cost around €5000. We were sceptical of this idea as his English wasn’t good and we didn’t know whether he fully considered and understood Alicja’s condition and serious leg malformation. We decided to first consult a very experienced child orthopaedic doctor in Poznan, Poland.

Child orthopedic consultant in Poznan (Poland)

In July 2010, we had a visit with the above child orthopedic doctor in Poznan. Doctor said that Alicja’s case would be very difficult to treat. As per his experience, treatment of similar cases was usually not satisfying and very often finished with an amputation. Moreover, surgeries on her leg would mean for Alicja long stays in hospitals and going through many procedures. He advised us to wait until our little girl is able to stand on her healthy leg and then to amputate the malformed part of the leg and fit a good prosthesis. This prosthesis would have to be changed every 6 to 12 months as Alicja is constantly growing and it would have to be of very good quality taking into account her balance problems and poor vision.

After this appointment, even though we started to get used to the idea of leg amputation, we still keep searching for a good specialist somewhere in the world and we didn’t lose hope that someone can reconstruct Alicja’s leg.

MRI of the right leg

The MRI test brought good news about Alicja’s right knee. She has a patella so the surgery at Dr Paley’s clinic can go ahead when she is 4 years old.

A unique opportunity to repair Alicja’s leg; consultation with Dr Dror Paley

Genetics - CHD7 gene

CHARGE syndrome is a genetic pattern of birth defects caused by a mutation in a single gene, most often CHD7. The syndrome occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child.

Only 67% of children with CHARGE syndrome had a mutation on the CHD7 gene. The only certain way to test whether a foetus has CHARGE syndrome is to check the CHD7 gene mutation. The gene mutation is an important piece of information in regard to the next pregnancy. Alicja is one of these “lucky” children as geneticists have found CHD7 gene mutation in her blood when she was 6 months old. That means that, during our next pregnancy, we can test the foetus on being a carrier of the gene mutation. The only thing is that miscarriage or birth defects occurrence during such a prenatal diagnosis is 1 out of 33 cases which is much more than re-occurrence having a baby with CHARGE syndrome.

It is strange how many people have asked us after Alicja was born whether we had done prenatal diagnosis. They can usually not understand there is thousands different genetic disorders and it is not possible to do a test for all of them.

After CHD7 gene mutation had been found in Alicja, we had our blood tested on having CHD7 gene mutation which showed we don’t have it. However, some studies show that male and female gametes can be carriers of this mutation. Unfortunately, this cannot be diagnosed at present.

Problems with anaesthetic

Knowing that our little girl will require several surgeries in the next couple of years, what worries us the most are her severe difficulties with anaesthetic.

There are three types of anaesthesia commonly used for children: sedation, inhalational anaesthetic and intubation. For medical tests or minor procedures, sedation or inhalation are usually used. Unfortunately, doctors never agree to use these methods with Alicja due to her massive secretions. Sedated or inhaled, she could stop swallowing completely and choke on her own saliva.

The only anaesthetic appropriate in Alicja’s case is intubation, which is, unfortunately the most dangerous and the most complicated one.

Yet it appears that intubation is far more dangerous for our daughter that for any other child. Alicja has a so called “difficult airway” which means that anaesthetic doctor doesn’t see her trachea while intubating her. As result the tube is extremely hard to be put in. It already happened twice that Alicja’s front teeth got damaged during intubation. And it could be even worse… Other risks of intubation are cerebral hypoxia or even death.

Deafblindness

Deafblindness is now considered a separate handicap and means the condition of little or no useful sight and little or no useful hearing (there is no hearing at all and little vision in Alicja's case). This means much greater learning difficulties that a person with just hearing or just vision loss would have. However, proper early intervention and education can make real difference for children like Alicja.

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